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Borsotti E, Nava FL, Benedicenti F, Cini L, Magarotto A, Ferrari D, Cantù P, Vitellaro M, Rausa E, Cavalcoli F. Hereditary Colorectal Cancer Syndromes: Small Bowel Cancer Risk and Endoscopic Surveillance Strategies. Diagnostics (Basel) 2025; 15:819. [PMID: 40218169 PMCID: PMC11988710 DOI: 10.3390/diagnostics15070819] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/10/2025] [Revised: 03/05/2025] [Accepted: 03/20/2025] [Indexed: 04/14/2025] Open
Abstract
Background: Hereditary colorectal cancer syndromes, including familial adenomatous polyposis (FAP), Lynch syndrome (LS), and Peutz-Jeghers syndrome (PJS), are associated with an increased risk of small bowel cancer (SBC). Due to the low incidence and non-specific presentation of SBC, effective surveillance strategies are essential for early detection and management. This review aims to evaluate and compare current endoscopic techniques for small bowel surveillance in these patients. Methods: A comprehensive review was conducted using peer-reviewed studies sourced from PubMed. Various endoscopic modalities, including capsule endoscopy (CE), device-assisted enteroscopy (DAE), and intraoperative enteroscopy (IOE), were assessed for their diagnostic yield, safety, and clinical utility. Surveillance recommendations of the different syndromes were also examined. Results: CE offers high sensitivity but lacks histological sampling capability. DAE, including double-balloon enteroscopy (DBE) and single-balloon enteroscopy (SBE), enables direct visualization, biopsy, and therapeutic interventions, albeit with greater procedural complexity. In FAP, duodenal surveillance follows the Spigelman classification to stratify cancer risk, while jejunal and ileal polyps remain less studied. LS patients have an increased SBC risk, warranting tailored endoscopic approaches. In PJS, surveillance aims to mitigate intussusception risks and allow early malignancy detection. Conclusions: Optimized surveillance strategies in hereditary colorectal cancer syndromes require a multimodal approach, integrating advanced endoscopic techniques with genetic risk stratification. Centralized care in tertiary centers improves outcomes by ensuring standardized surveillance protocols and enhancing early cancer detection. Artificial intelligence (AI) applied to CE and DAE is shaping promising prospects for the future surveillance of small bowel polyps by enhancing diagnostic accuracy and reducing the duration of the diagnostic process. Further research should investigate AI-assisted imaging and molecular biomarkers to optimize screening strategies.
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Affiliation(s)
- Edoardo Borsotti
- Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy; (E.B.); (L.C.); (A.M.); (P.C.); (F.C.)
| | - Francesca Laura Nava
- Colorectal Surgery Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy;
| | - Felice Benedicenti
- Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy; (E.B.); (L.C.); (A.M.); (P.C.); (F.C.)
| | - Laura Cini
- Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy; (E.B.); (L.C.); (A.M.); (P.C.); (F.C.)
| | - Andrea Magarotto
- Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy; (E.B.); (L.C.); (A.M.); (P.C.); (F.C.)
| | - Davide Ferrari
- Unit of Hereditary Digestive Tract Tumors, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy; (D.F.); (M.V.); (E.R.)
| | - Paolo Cantù
- Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy; (E.B.); (L.C.); (A.M.); (P.C.); (F.C.)
| | - Marco Vitellaro
- Unit of Hereditary Digestive Tract Tumors, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy; (D.F.); (M.V.); (E.R.)
| | - Emanuele Rausa
- Unit of Hereditary Digestive Tract Tumors, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy; (D.F.); (M.V.); (E.R.)
| | - Federica Cavalcoli
- Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy; (E.B.); (L.C.); (A.M.); (P.C.); (F.C.)
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Bosch EM, Laskaratos FM, Sodergren M, Faiz O, Humphries A. The Role of Small-Bowel Endoscopy in the Diagnosis and Management of Small-Bowel Neuroendocrine Tumours. J Clin Med 2024; 13:6877. [PMID: 39598021 PMCID: PMC11594952 DOI: 10.3390/jcm13226877] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/24/2024] [Revised: 11/10/2024] [Accepted: 11/11/2024] [Indexed: 11/29/2024] Open
Abstract
Neuroendocrine tumours (NETs) are relatively rare neoplasms but represent one of the most frequent types of primary small-bowel tumours. Their incidence is rising, and this is most likely because of their more frequent early-stage detection, physician awareness, and increasing availability and use of imaging and small-bowel endoscopic techniques, such as video capsule endoscopy and device-assisted enteroscopy, which enable the detection, localisation, and histological sampling of previously inaccessible and underdiagnosed small-bowel lesions. This review summarises the role of small-bowel endoscopy in the diagnosis and management of small-bowel NETs to assist clinicians in their practice. Small-bowel endoscopy may play a complementary role in the diagnosis of these tumours alongside other diagnostic tests, such as biomarkers, conventional radiology, and functional imaging. In addition, small-bowel enteroscopy may play a role in the preoperative setting for the identification and marking of these tumours for surgical resection and the management of rare complications, such as small-bowel variceal bleeding, in cases of portal hypertension due to the encasement of mesenteric vessels in fibrotic small-bowel NETs.
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Affiliation(s)
- Elisabet Maristany Bosch
- St Mark’s National Bowel Hospital, Acton Lane, Park Royal, London NW10 7NS, UK; (E.M.B.); (A.H.)
| | - Faidon-Marios Laskaratos
- St Mark’s National Bowel Hospital, Acton Lane, Park Royal, London NW10 7NS, UK; (E.M.B.); (A.H.)
| | - Mikael Sodergren
- Department of Surgery and Cancer, Faculty of Medicine, Hammersmith Hospital, London W12 0TS, UK;
- Imperial Neuroendocrine Tumour Unit, ENETS Centre of Excellence, London W12 0TS, UK
- Imperial College London, London SW7 2AZ, UK;
| | - Omar Faiz
- Imperial College London, London SW7 2AZ, UK;
- Department of Surgery, St Mark’s National Bowel Hospital, Acton Lane, Park Royal, London NW10 7NS, UK
| | - Adam Humphries
- St Mark’s National Bowel Hospital, Acton Lane, Park Royal, London NW10 7NS, UK; (E.M.B.); (A.H.)
- Imperial College London, London SW7 2AZ, UK;
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Yamashita K, Oka S, Yamada T, Mitsui K, Yamamoto H, Takahashi K, Shiomi A, Hotta K, Takeuchi Y, Kuwai T, Ishida F, Kudo SE, Saito S, Ueno M, Sunami E, Yamano T, Itabashi M, Ohtsuka K, Kinugasa Y, Matsumoto T, Sugai T, Uraoka T, Kurahara K, Yamaguchi S, Kato T, Okajima M, Kashida H, Akagi Y, Ikematsu H, Ito M, Esaki M, Kawai M, Yao T, Hamada M, Horimatsu T, Koda K, Fukai Y, Komori K, Saitoh Y, Kanemitsu Y, Takamaru H, Yamada K, Nozawa H, Takayama T, Togashi K, Shinto E, Torisu T, Toyoshima A, Ohmiya N, Kato T, Otsuji E, Nagata S, Hashiguchi Y, Sugihara K, Ajioka Y, Tanaka S. Clinicopathological features and prognosis of primary small bowel adenocarcinoma: a large multicenter analysis of the JSCCR database in Japan. J Gastroenterol 2024; 59:376-388. [PMID: 38411920 PMCID: PMC11033235 DOI: 10.1007/s00535-024-02081-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/08/2023] [Accepted: 01/18/2024] [Indexed: 02/28/2024]
Abstract
BACKGROUND The clinicopathological features and prognosis of primary small bowel adenocarcinoma (PSBA), excluding duodenal cancer, remain undetermined due to its rarity in Japan. METHODS We analyzed 354 patients with 358 PSBAs, between January 2008 and December 2017, at 44 institutions affiliated with the Japanese Society for Cancer of the Colon and Rectum. RESULTS The median age was 67 years (218 males, 61.6%). The average tumor size was 49.9 (7-100) mm. PSBA sites consisted of jejunum (66.2%) and ileum (30.4%). A total of 219 patients (61.9%) underwent diagnostic small bowel endoscopy, including single-balloon endoscopy, double-balloon endoscopy, and capsule endoscopy before treatment. Nineteen patients (5.4%) had Lynch syndrome, and 272 patients (76.8%) had symptoms at the initial diagnosis. The rates for stages 0, I, II, III, and IV were 5.4%, 2.5%, 27.1%, 26.0%, and 35.6%, respectively. The 5-year overall survival rates at each stage were 92.3%, 60.0%, 75.9%, 61.4%, and 25.5%, respectively, and the 5-year disease-specific survival (DSS) rates were 100%, 75.0%, 84.1%, 59.3%, and 25.6%, respectively. Patients with the PSBA located in the jejunum, with symptoms at the initial diagnosis or advanced clinical stage had a worse prognosis. However, multivariate analysis using Cox-hazard model revealed that clinical stage was the only significant predictor of DSS for patients with PSBA. CONCLUSIONS Of the patients with PSBA, 76.8% had symptoms at the initial diagnosis, which were often detected at an advanced stage. Detection during the early stages of PSBA is important to ensure a good prognosis.
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Affiliation(s)
- Ken Yamashita
- Department of Gastroenterology, Hiroshima University Hospital, 1-2-3, Kasumi, Minami-Ku, Hiroshima, 734-8551, Japan
| | - Shiro Oka
- Department of Gastroenterology, Hiroshima University Hospital, 1-2-3, Kasumi, Minami-Ku, Hiroshima, 734-8551, Japan.
| | - Takeshi Yamada
- Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan
| | - Keigo Mitsui
- Department of Gastroenterology, Nippon Medical School, Graduate School of Medicine, Tokyo, Japan
| | - Hironori Yamamoto
- Department of Medicine, Division of Gastroenterology, Jichi Medical University, Tochigi, Japan
| | - Keiichi Takahashi
- Department of Colorectal Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan
| | - Akio Shiomi
- Division of Colon and Rectal Surgery, Shizuoka Cancer Center, Shizuoka, Japan
| | - Kinichi Hotta
- Division of Endoscopy, Shizuoka Cancer Center, Shizuoka, Japan
| | - Yoji Takeuchi
- Department of Gastrointestinal Oncology, Osaka International Cancer Institute, Osaka, Japan
| | - Toshio Kuwai
- Department of Gastroenterology, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan
| | - Fumio Ishida
- Digestive Disease Center, Showa University Northern Yokohama Hospital, Kanagawa, Japan
| | - Shin-Ei Kudo
- Digestive Disease Center, Showa University Northern Yokohama Hospital, Kanagawa, Japan
| | - Shoichi Saito
- Department of Lower Gastrointestinal Medicine, Cancer Institute Hospital of the Japanese Foundation for Cancer Research, Tokyo, Japan
| | - Masashi Ueno
- Department of Gastroenterological Surgery, Toranomon Hospital, Tokyo, Japan
| | - Eiji Sunami
- Department of Surgery, Kyorin University School of Medicine, Tokyo, Japan
| | - Tomoki Yamano
- Division of Lower Gastrointestinal Surgery, Department of Surgery, Hyogo College of Medicine, Hyogo, Japan
| | - Michio Itabashi
- Department of Surgery, Institute of Gastroenterology, Tokyo Women's Medical University, Tokyo, Japan
| | - Kazuo Ohtsuka
- Department of Gastroenterology and Hepatology, Tokyo Medical and Dental University, Tokyo, Japan
| | - Yusuke Kinugasa
- Department of Gastrointestinal Surgery, Tokyo Medical and Dental University, Tokyo, Japan
| | - Takayuki Matsumoto
- Division of Gastroenterology, Department of Internal Medicine, Iwate Medical University, Iwate, Japan
| | - Tamotsu Sugai
- Department of Diagnostic Pathology, Iwate Medical University, Iwate, Japan
| | - Toshio Uraoka
- Department of Gastroenterology and Hepatology, Gunma University Graduate School of Medicine, Gunma, Japan
| | - Koichi Kurahara
- Division of Gastroenterology, Matsuyama Red Cross Hospital, Ehime, Japan
| | - Shigeki Yamaguchi
- Department of Gastroenterological Surgery, Saitama Medical University International Medical Center, Saitama, Japan
| | - Tomohiro Kato
- Division of Gastroenterology and Hepatology, Department of Internal Medicine, The Jikei University School of Medicine, Tokyo, Japan
| | - Masazumi Okajima
- Department of Surgery, Hiroshima City Hiroshima Citizens Hospital, Hiroshima, Japan
| | - Hiroshi Kashida
- Department of Gastroenterology and Hepatology, Kindai University Faculty of Medicine, Osaka, Japan
| | - Yoshito Akagi
- Department of Surgery, Kurume University School of Medicine, Fukuoka, Japan
| | - Hiroaki Ikematsu
- Department of Gastroenterology and Endoscopy, National Cancer Center Hospital East, Chiba, Japan
| | - Masaaki Ito
- Department of Colorectal Surgery, National Cancer Center Hospital East, Chiba, Japan
| | - Motohiro Esaki
- Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, Saga University, Saga, Japan
| | - Masaya Kawai
- Department of Coloproctological Surgery, Faculty of Medicine, Juntendo University, Tokyo, Japan
| | - Takashi Yao
- Department of Human Pathology, Juntendo University Graduate School of Medicine, Tokyo, Japan
| | - Madoka Hamada
- Department of Gastrointestinal Surgery, Kansai Medical University Hospital, Osaka, Japan
| | - Takahiro Horimatsu
- Department of Clinical Oncology, Kyoto University Hospital, Kyoto, Japan
| | - Keiji Koda
- Department of Surgery, Teikyo University Chiba Medical Center, Chiba, Japan
| | - Yasumori Fukai
- Department of Gastroenterology, Maebashi Red Cross Hospital, Gunma, Japan
| | - Koji Komori
- Department of Gastroenterological Surgery, Aichi Cancer Center Hospital, Aichi, Japan
| | - Yusuke Saitoh
- Department of Gastroenterology, Asahikawa City Hospital, Asahikawa, Hokkaido, Japan
| | - Yukihide Kanemitsu
- Department of Colorectal Surgery, National Cancer Center Hospital, Tokyo, Japan
| | | | - Kazutaka Yamada
- Department of Surgery, Coloproctology Center Takano Hospital, Kumamoto, Japan
| | - Hiroaki Nozawa
- Department of Surgical Oncology, The University of Tokyo, Tokyo, Japan
| | - Tetsuji Takayama
- Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan
| | - Kazutomo Togashi
- Department of Coloproctology, Aizu Medical Center, Fukushima Medical University, Fukushima, Japan
| | - Eiji Shinto
- Department of Surgery, National Defense Medical College, Tokorozawa, Saitama, Japan
| | - Takehiro Torisu
- Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Akira Toyoshima
- Department of Colorectal Surgery, Japanese Red Cross Medical Center, Tokyo, Japan
| | - Naoki Ohmiya
- Department of Advanced Endoscopy, Fujita Health University School of Medicine, Aichi, Japan
| | - Takeshi Kato
- Department of Surgery, National Hospital Organization Osaka National Hospital, Osaka, Japan
| | - Eigo Otsuji
- Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, Kyoto, Japan
| | - Shinji Nagata
- Department of Gastroenterology, Hiroshima City North Medical Center Asa Citizens Hospital, Hiroshima, Japan
| | - Yojiro Hashiguchi
- Department of Surgery, Japanese Red Cross Omori Hospital, Tokyo, Japan
| | | | - Yoichi Ajioka
- Division of Molecular and Diagnostic Pathology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
| | - Shinji Tanaka
- Department of Gastroenterology, Hiroshima University Hospital, 1-2-3, Kasumi, Minami-Ku, Hiroshima, 734-8551, Japan
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4
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Cortegoso Valdivia P, Deding U, Bjørsum-Meyer T, Pennazio M, Gaiani F, Koulaouzidis A, Laghi L. Surveillance of the small-bowel by capsule endoscopy in Lynch syndrome - A systematic review with meta-analysis. Dig Liver Dis 2024; 56:601-606. [PMID: 37563008 DOI: 10.1016/j.dld.2023.07.028] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/14/2023] [Revised: 07/23/2023] [Accepted: 07/24/2023] [Indexed: 08/12/2023]
Abstract
BACKGROUND & AIMS The role of small-bowel (SB) cancer surveillance by capsule endoscopy (CE) in Lynch syndrome (LS) patients has been investigated in recent years, with contradicting results. This meta-analysis evaluates the diagnostic yield (DY) of CE as a screening tool in asymptomatic LS patients. METHODS A systematic literature search was performed for all studies reporting the results of SB cancer screening in patients with LS. The primary outcome was the evaluation of the DY of CE in this setting for consecutive screening rounds. RESULTS Five studies comprising 428 patients and CE 677 procedures were included for data extraction and statistical analysis. The estimated pooled DY for CE-identified pathological findings was 8% in the first screening round and 6% in the second. Limiting the analysis to histologically-confirmed pathological findings, the pooled DY of second-round screening dropped to 0%. The included studies showed a significantly different prevalence of pathogenic variants in mismatch repair (path_MMR) genes, which underlie different cumulative incidences of extracolonic cancers. CONCLUSIONS SB surveillance by CE with a 2-year interval in asymptomatic LS individuals does not appear to be an effective screening strategy. Confirmatory prospective studies in this context are needed, considering the different cumulative incidence of SB tumors according to underlying path_MMR defects.
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Affiliation(s)
- Pablo Cortegoso Valdivia
- Gastroenterology and Endoscopy Unit, University Hospital of Parma, University of Parma, 43125, Parma, Italy.
| | - Ulrik Deding
- Department of Clinical Research, University of Southern Denmark, 5230, Odense, Denmark; Department of Surgery, Odense University Hospital, 5000, Odense, Denmark
| | - Thomas Bjørsum-Meyer
- Department of Clinical Research, University of Southern Denmark, 5230, Odense, Denmark; Department of Surgery, Odense University Hospital, 5000, Odense, Denmark
| | - Marco Pennazio
- University Division of Gastroenterology, City of Health and Science University Hospital, University of Turin, 10126, Turin, Italy
| | - Federica Gaiani
- Gastroenterology and Endoscopy Unit, University Hospital of Parma, University of Parma, 43125, Parma, Italy; Department of Medicine and Surgery, University of Parma, 43125, Parma, Italy
| | - Anastasios Koulaouzidis
- Department of Clinical Research, University of Southern Denmark, 5230, Odense, Denmark; Department of Gastroenterology, OUH Svendborg Sygehus, 5700, Svendborg, Denmark; Surgical Research Unit, Odense University Hospital, 5000, Odense, Denmark; Department of Social Medicine and Public Health, Pomeranian Medical University, 70204, Szczecin, Poland
| | - Luigi Laghi
- Gastroenterology and Endoscopy Unit, University Hospital of Parma, University of Parma, 43125, Parma, Italy; Department of Medicine and Surgery, University of Parma, 43125, Parma, Italy; Molecular Gastroenterology Laboratory, IRCCS Humanitas Research Hospital, 20089, Rozzano, Milan, Italy
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5
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Lafeuille P, Calavas L, Benech N, Raby N, Subtil F, Pioche M, Saurin JC. Coordinated prospective follow-up of Lynch syndrome is able to detect the majority of incident cancers. Dig Liver Dis 2023; 55:1735-1741. [PMID: 37098454 DOI: 10.1016/j.dld.2023.03.016] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/29/2022] [Revised: 03/28/2023] [Accepted: 03/28/2023] [Indexed: 04/27/2023]
Abstract
BACKGROUND Lynch syndrome is one of the most common genetic predispositions to many cancers, most of which do not have a consensus recommendation for screening. AIMS We studied in our region the value of a systematized and coordinated follow-up program for patients with Lynch syndrome on all organs at risk. METHODS A multicenter prospective cohort evaluation was performed, from January 2016 to June 2021. RESULTS One hundred and seventy-eight patients were prospectively included (104 women (58%), median age 44 years, range 35-56 years) with a median follow-up of 4 years (range 2.5-5 years), corresponding to a total of 652 patient-years. The overall cancer incidence rate was 13.80 per 1000 patient-years. Seven of nine cancers (78%) were detected during the follow-up program, with all cancers identified at an early stage. The detection rate of adenomas during colonoscopies was 24%. CONCLUSION These preliminary data suggest that coordinated prospective follow-up of Lynch syndrome is capable of detecting the majority of incident cancers, particularly for locations not covered by an international follow-up recommendation. However, these results need to be confirmed by larger-scale studies.
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Affiliation(s)
- Pierre Lafeuille
- Department of Gastroenterology and Endoscopy, Edouard Herriot Hospital, Lyon, France.
| | - Laura Calavas
- Department of Gastroenterology and Endoscopy, Edouard Herriot Hospital, Lyon, France
| | - Nicolas Benech
- Department of Gastroenterology and Endoscopy, Edouard Herriot Hospital, Lyon, France
| | - Naouele Raby
- Department of Gastroenterology and Endoscopy, Edouard Herriot Hospital, Lyon, France
| | - Fabien Subtil
- Service de Biostatistique, Hospices Civils de Lyon, Lyon, France; Université de Lyon, Université Lyon 1, CNRS, Laboratoire de Biométrie et Biologie Evolutive UMR 5558, Villeurbanne, France
| | - Mathieu Pioche
- Department of Gastroenterology and Endoscopy, Edouard Herriot Hospital, Lyon, France
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6
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Pennazio M, Rondonotti E, Despott EJ, Dray X, Keuchel M, Moreels T, Sanders DS, Spada C, Carretero C, Cortegoso Valdivia P, Elli L, Fuccio L, Gonzalez Suarez B, Koulaouzidis A, Kunovsky L, McNamara D, Neumann H, Perez-Cuadrado-Martinez E, Perez-Cuadrado-Robles E, Piccirelli S, Rosa B, Saurin JC, Sidhu R, Tacheci I, Vlachou E, Triantafyllou K. Small-bowel capsule endoscopy and device-assisted enteroscopy for diagnosis and treatment of small-bowel disorders: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Update 2022. Endoscopy 2023; 55:58-95. [PMID: 36423618 DOI: 10.1055/a-1973-3796] [Citation(s) in RCA: 130] [Impact Index Per Article: 65.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
Abstract
MR1: ESGE recommends small-bowel capsule endoscopy as the first-line examination, before consideration of other endoscopic and radiological diagnostic tests for suspected small-bowel bleeding, given the excellent safety profile of capsule endoscopy, its patient tolerability, and its potential to visualize the entire small-bowel mucosa.Strong recommendation, moderate quality evidence. MR2: ESGE recommends small-bowel capsule endoscopy in patients with overt suspected small-bowel bleeding as soon as possible after the bleeding episode, ideally within 48 hours, to maximize the diagnostic and subsequent therapeutic yield.Strong recommendation, high quality evidence. MR3: ESGE does not recommend routine second-look endoscopy prior to small-bowel capsule endoscopy in patients with suspected small-bowel bleeding or iron-deficiency anemia.Strong recommendation, low quality evidence. MR4: ESGE recommends conservative management in those patients with suspected small-bowel bleeding and high quality negative small-bowel capsule endoscopy.Strong recommendation, moderate quality evidence. MR5: ESGE recommends device-assisted enteroscopy to confirm and possibly treat lesions identified by small-bowel capsule endoscopy.Strong recommendation, high quality evidence. MR6: ESGE recommends the performance of small-bowel capsule endoscopy as a first-line examination in patients with iron-deficiency anemia when small bowel evaluation is indicated.Strong recommendation, high quality evidence. MR7: ESGE recommends small-bowel capsule endoscopy in patients with suspected Crohn's disease and negative ileocolonoscopy findings as the initial diagnostic modality for investigating the small bowel, in the absence of obstructive symptoms or known bowel stenosis.Strong recommendation, high quality evidence. MR8: ESGE recommends, in patients with unremarkable or nondiagnostic findings from dedicated small-bowel cross-sectional imaging, small-bowel capsule endoscopy as a subsequent investigation if deemed likely to influence patient management.Strong recommendation, low quality evidence. MR9: ESGE recommends, in patients with established Crohn's disease, the use of a patency capsule before small-bowel capsule endoscopy to decrease the capsule retention rate.Strong recommendation, moderate quality evidence. MR10: ESGE recommends device-assisted enteroscopy (DAE) as an alternative to surgery for foreign bodies retained in the small bowel requiring retrieval in patients without acute intestinal obstruction.Strong recommendation, moderate quality evidence. MR11: ESGE recommends DAE-endoscopic retrograde cholangiopancreatography (DAE-ERCP) as a first-line endoscopic approach to treat pancreaticobiliary diseases in patients with surgically altered anatomy (except for Billroth II patients).Strong recommendation, moderate quality evidence.
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Affiliation(s)
- Marco Pennazio
- University Division of Gastroenterology, City of Health and Science University Hospital, University of Turin, Turin, Italy
| | | | - Edward J Despott
- Royal Free Unit for Endoscopy, The Royal Free Hospital and UCL Institute for Liver and Digestive Health, London, UK
| | - Xavier Dray
- Sorbonne University, Endoscopy Unit, AP-HP, Hôpital Saint-Antoine, Paris, France
| | - Martin Keuchel
- Clinic for Internal Medicine, Agaplesion Bethesda Krankenhaus Bergedorf, Hamburg, Germany
| | - Tom Moreels
- Division of Gastroenterology and Hepatology, University Hospital Saint-Luc, Brussels, Belgium
| | - David S Sanders
- Sheffield Teaching Hospitals NHS Foundation Trust, Gastroenterology Sheffield, Sheffield, UK
| | - Cristiano Spada
- Digestive Endoscopy Unit and Gastroenterology, Fondazione Poliambulanza, Brescia, Italy
- Università Cattolica del Sacro Cuore, Rome, Italy
| | - Cristina Carretero
- Department of Gastroenterology. University of Navarre Clinic, Healthcare Research Institute of Navarre, Pamplona, Spain
| | - Pablo Cortegoso Valdivia
- Gastroenterology and Endoscopy Unit, University Hospital of Parma, University of Parma, Parma, Italy
| | - Luca Elli
- Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Lorenzo Fuccio
- IRCCS Azienda Ospedaliero-Universitaria di Bologna, Department of Medical and Surgical Sciences, Gastroenterology Unit, University of Bologna, Bologna, Italy
| | - Begona Gonzalez Suarez
- Gastroenterology Department - ICMDiM, Hospital Clínic of Barcelona, DIBAPS, CiBERHED, Barcelona, Spain
| | - Anastasios Koulaouzidis
- Centre for Clinical Implementation of Capsule Endoscopy, Store Adenomer Tidlige Cancere Center, Svendborg, University of Southern Denmark, Denmark
| | - Lumir Kunovsky
- 2nd Department of Internal Medicine - Gastroenterology and Geriatrics, University Hospital Olomouc, Faculty of Medicine and Dentistry, Palacky University Olomouc, Olomouc, Czech Republic
- Department of Surgery, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic
- Department of Gastroenterology and Digestive Endoscopy, Masaryk Memorial Cancer Institute, Brno, Czech Republic
| | - Deirdre McNamara
- TAGG Research Centre, Department of Clinical Medicine, Trinity Centre, Tallaght Hospital, Dublin, Ireland
| | - Helmut Neumann
- Department of Medicine I, University Medical Center Mainz, Mainz, Germany
| | | | | | - Stefania Piccirelli
- Digestive Endoscopy Unit and Gastroenterology, Fondazione Poliambulanza, Brescia, Italy
| | - Bruno Rosa
- Department of Gastroenterology, Hospital da Senhora da Oliveira, Guimarães, Portugal
- Life and Health Sciences Research Institute, School of Medicine, University of Minho, Braga/Guimarães, Portugal
- ICVS/3B's, PT Government Associate Laboratory, Braga/Guimarães, Portugal
| | - Jean-Christophe Saurin
- Gastroenterology and Endoscopy Unit, Hospices Civils de Lyon, Hôpital E. Herriot, Lyon, France
| | - Reena Sidhu
- Academic Department of Gastroenterology and Hepatology, Sheffield Teaching Hospitals, Sheffield, United Kingdom
- Department of Infection, Immunity and Cardiovascular Diseases, University of Sheffield, United Kingdom
| | - Ilja Tacheci
- 2nd Department of Internal Medicine - Gastroenterology, University Hospital Hradec Králové, Charles University, Faculty of Medicine in Hradec Králové, Czech Republic
| | | | - Konstantinos Triantafyllou
- Hepatogastroenterology Unit, Second Department of Internal Medicine - Propaedeutic, Research Institute and Diabetes Center, Medical School, National and Kapodistrian University of Athens, Attikon University General Hospital, Athens, Greece
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7
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Epidemiology, Risk Factors and Diagnosis of Small Bowel Adenocarcinoma. Cancers (Basel) 2022; 14:cancers14092268. [PMID: 35565398 PMCID: PMC9103761 DOI: 10.3390/cancers14092268] [Citation(s) in RCA: 11] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/07/2022] [Revised: 04/10/2022] [Accepted: 04/22/2022] [Indexed: 12/17/2022] Open
Abstract
Simple Summary Small bowel adenocarcinoma is a rare tumor. Diagnosis is often obtained at an advanced stage and prognosis remains poor. The aim of this review is to report the recent epidemiological and risk factor data related to small bowel adenocarcinoma. New diagnostic tools are also described in this review. Abstract Adenocarcinomas of the small intestine are rare tumors but their incidence is increasing. There is a slight male predominance. The median age at diagnosis is the 6th decade. The most frequent primary location is the duodenum. There is no clearly identified environmental risk factor, but adenocarcinomas of the small intestine are associated in almost 20% of cases with predisposing diseases (Crohn’s disease, Lynch syndrome, familial adenomatous polyposis, Peutz–Jeghers syndrome and celiac disease).
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8
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Amoyel M, Belle A, Dhooge M, Ali EA, Hallit R, Prat F, Dohan A, Terris B, Chaussade S, Coriat R, Barret M. Endoscopic management of non-ampullary duodenal adenomas. Endosc Int Open 2022; 10:E96-E108. [PMID: 35047339 PMCID: PMC8759941 DOI: 10.1055/a-1723-2847] [Citation(s) in RCA: 9] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/04/2021] [Accepted: 10/19/2021] [Indexed: 12/12/2022] Open
Abstract
Duodenal polyps are found in 0.1 % to 0.8 % of all upper endoscopies. Duodenal adenomas account for 10 % to 20 % of these lesions. They can be sporadic or occur in the setting of a hereditary predisposition syndrome, mainly familial adenomatous polyposis. Endoscopy is the cornerstone of management of duodenal adenomas, allowing for diagnosis and treatment, primarily by endoscopic mucosal resection. The endoscopic treatment of duodenal adenomas has a high morbidity, reaching 15 % in a prospective study, consisting of bleeding and perforations, and should therefore be performed in expert centers. The local recurrence rate ranges from 9 % to 37 %, and is maximal for piecemeal resections of lesions > 20 mm. Surgical resection of the duodenum is flawed with major morbidity and considered a rescue procedure in cases of endoscopic treatment failures or severe endoscopic complications such as duodenal perforations. In this paper, we review the existing evidence on endoscopic diagnosis and treatment of non-ampullary duodenal adenomas.
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Affiliation(s)
- Maxime Amoyel
- Gastroenterology Department, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, France
| | - Arthur Belle
- Gastroenterology Department, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, France
| | - Marion Dhooge
- Gastroenterology Department, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, France
| | - Einas Abou Ali
- Gastroenterology Department, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, France,University of Paris, France.
| | - Rachel Hallit
- Gastroenterology Department, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, France,University of Paris, France.
| | - Frederic Prat
- Gastroenterology Department, Beaujon Hospital, Assistance Publique – Hôpitaux de Paris, France,University of Paris, France.
| | - Anthony Dohan
- University of Paris, France.,Radiology Department, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, France
| | - Benoit Terris
- University of Paris, France.,Pathology Department, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, France
| | - Stanislas Chaussade
- Gastroenterology Department, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, France,University of Paris, France.
| | - Romain Coriat
- Gastroenterology Department, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, France,Gastroenterology Department, Beaujon Hospital, Assistance Publique – Hôpitaux de Paris, France
| | - Maximilien Barret
- Gastroenterology Department, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, France,Gastroenterology Department, Beaujon Hospital, Assistance Publique – Hôpitaux de Paris, France
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9
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Sánchez A, Bujanda L, Cuatrecasas M, Bofill A, Alvarez-Urturi C, Hernandez G, Aguilera L, Carballal S, Llach J, Herrera-Pariente C, Iglesias M, Rivero-Sánchez L, Jung G, Moreno L, Ocaña T, Bayarri C, Pellise M, Castells A, Castellví-Bel S, Balaguer F, Moreira L. Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma. Cancers (Basel) 2021; 13:6378. [PMID: 34944998 PMCID: PMC8699558 DOI: 10.3390/cancers13246378] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/23/2021] [Accepted: 12/14/2021] [Indexed: 12/03/2022] Open
Abstract
BACKGROUND Small bowel adenocarcinoma (SBA) is a rare disease which can be associated with Lynch syndrome (LS). LS tumors are characterized by the presence of microsatellite instability (MSI) and/or the loss of mismatch repair (MMR) protein expression. In SBA, the frequency of MMR deficient (MMRd) tumors varies from 5% to 35%. This study aims to describe the prevalence of LS carriers among patients with MMRd small bowel adenocarcinomas. METHODS A multicenter retrospective study with identification and MMR testing of all consecutive SBA between 2004 and 2020 in a multicenter Spanish study. Demographical data, tumor characteristics, follow-up and survival information were collected. Germline testing was driven by identification of MMRd tumors. RESULTS A total of 94 individuals diagnosed with SBA were recruited. We observed 20 (21.3%) MMRd tumors. In 9/15 (60%) patients with MMRd tumors, a pathogenic variant was identified (three MLH1, four MSH2, one MSH6 and one PMS2). Accordingly, the prevalence of LS among all SBA cases was 10.1%. CONCLUSIONS More than one-fifth of SBA display MMRd and in more than a half is due to LS. Our data supports the implementation of universal MMR tumor testing among SBA for the identification of LS families.
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Affiliation(s)
- Ariadna Sánchez
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Luis Bujanda
- Department of Gastroenterology, Biodonostia Health Research Institute, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), Universidad del País Vasco (UPV/EHU), 20014 San Sebastián, Spain;
| | - Miriam Cuatrecasas
- Department of Pathology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain;
| | - Alex Bofill
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Cristina Alvarez-Urturi
- Department of Gastroenterology, IMIM (Hospital del Mar Medical Research Institute), Barcelona Hospital del Mar, 08003 Barcelona, Spain;
| | - Goretti Hernandez
- Department of Gastroenterology, Hospital Universitario de Canarias, 38320 Tenerife, Spain;
| | - Lara Aguilera
- Department of Gastroenterology, Vall d’Hebron Research Institute, 08035 Barcelona, Spain;
| | - Sabela Carballal
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Joan Llach
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Cristina Herrera-Pariente
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Mar Iglesias
- Department of Pathology, IMIM (Hospital del Mar Medical Research Institute), Barcelona Hospital del Mar, 08003 Barcelona, Spain;
| | - Liseth Rivero-Sánchez
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Gerhard Jung
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Lorena Moreno
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Teresa Ocaña
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Carolina Bayarri
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Maria Pellise
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Antoni Castells
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Sergi Castellví-Bel
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Francesc Balaguer
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
| | - Leticia Moreira
- Department of Gastroenterology, Hospital Clínic Barcelona, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), IDIBAPS (Institut d’Investigacions Biomèdiques August Pi i Sunyer), University of Barcelona, 08036 Barcelona, Spain; (A.S.); (A.B.); (S.C.); (J.L.); (C.H.-P.); (L.R.-S.); (G.J.); (L.M.); (T.O.); (C.B.); (M.P.); (A.C.); (S.C.-B.); (F.B.)
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10
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DeJesse J, Vajravelu RK, Dudzik C, Constantino G, Long JM, Wangensteen KJ, Valverde KD, Katona BW. Uptake and outcomes of small intestinal and urinary tract cancer surveillance in Lynch syndrome. World J Clin Oncol 2021; 12:1023-1036. [PMID: 34909397 PMCID: PMC8641013 DOI: 10.5306/wjco.v12.i11.1023] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/13/2021] [Revised: 07/26/2021] [Accepted: 10/14/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Lynch syndrome (LS) is a hereditary cancer predisposition syndrome associated with increased risk of multiple cancers. While colorectal cancer surveillance decreases mortality in LS and is recommended by guidelines, there is lack of evidence for the efficacy of surveillance for extra-colonic cancers associated with LS, including small intestinal cancer (SIC) and urinary tract cancer (UTC). Given the limited evidence, guidelines do not consistently recommend surveillance for SIC and UTC, and it remains unclear how often individuals will choose to undergo and follow through with extra-colonic surveillance recommendations.
AIM To study factors associated with SIC and UTC surveillance uptake and outcomes in LS.
METHODS This is an IRB-approved retrospective analysis of individuals with LS seen at a tertiary care referral center. Included individuals had a pathogenic or likely pathogenic variant in MLH1, MSH2, MSH6, PMS2, or EPCAM, or were a confirmed obligate carrier, and had at least one documented visit to our center. Information regarding SIC and UTC surveillance was captured for each individual, and detailed personal and family history was obtained for individuals who had an initial LS management visit in our center’s dedicated high-risk LS clinic between January 1, 2017 and October 29, 2020. During these initial management visits, all patients had in-depth discussions of SIC and UTC surveillance with 1 of 3 providers experienced in LS management to promote informed decision-making about whether to pursue SIC and/or UTC surveillance. Statistical analysis using Pearson’s chi-squared test and Wilcoxon rank-sum test was completed to understand the factors associated with pursuit and completion of SIC and UTC surveillance, and a P value below 0.05 was deemed statistically significant.
RESULTS Of 317 individuals with LS, 86 (27%) underwent a total of 105 SIC surveillance examinations, with 5 leading to additional work-up and no SICs diagnosed. Additionally, 99 (31%) patients underwent a total of 303 UTC surveillance examinations, with 19 requiring further evaluation and 1 UTC identified. Of 155 individuals who had an initial LS management visit between January 1, 2017 and October 29, 2020, 63 (41%) chose to undergo SIC surveillance and 58 (37%) chose to undergo UTC surveillance. However, only 26 (41%) and 32 (55%) of those who initially chose to undergo SIC or UTC surveillance, respectively, successfully completed their surveillance examinations. Individuals with a pathogenic variant in MSH2 or EPCAM were more likely to initially choose to undergo SIC surveillance (P = 0.034), and older individuals were more likely to complete SIC surveillance (P = 0.007). Choosing to pursue UTC surveillance was more frequent among older individuals (P = 0.018), and females more frequently completed UTC surveillance (P = 0.002). Personal history of cancer and family history of SIC or UTC were not significantly associated with electing nor completing surveillance. Lastly, the provider discussing SIC/UTC surveillance was significantly associated with subsequent surveillance choices.
CONCLUSION Pursuing and completing SIC/UTC surveillance in LS is influenced by several factors, however broad incorporation in LS management is likely unhelpful due to low yield and frequent false positive results.
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Affiliation(s)
- Jeshua DeJesse
- Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, United States
| | - Ravy K Vajravelu
- Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States
| | - Christina Dudzik
- Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States
| | - Gillain Constantino
- Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States
| | - Jessica M Long
- Division of Hematology and Oncology, University of Pennsylvania, Philadelphia, PA 19104, United States
| | - Kirk J Wangensteen
- Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States
| | - Kathleen D Valverde
- Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, United States
| | - Bryson W Katona
- Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States
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11
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Olivier R, Randrian V, Tougeron D, Saurin JC. Endoscopy to Diagnose and Prevent Digestive Cancers in Lynch Syndrome. Cancers (Basel) 2021; 13:3505. [PMID: 34298719 PMCID: PMC8305049 DOI: 10.3390/cancers13143505] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2021] [Revised: 06/23/2021] [Accepted: 07/09/2021] [Indexed: 12/15/2022] Open
Abstract
Lynch syndrome patients could benefit from various recommendations to prevent digestive cancers. In this review, we summarize the criteria to identify Lynch syndrome in patients with digestive cancers. We detail endoscopic screening procedures in patients with Lynch syndrome for gastric, small bowel, pancreatic, and colorectal cancers. We review the precise modalities of endoscopic follow-up, particularly the discrepancies that exist between the guidelines of the various scientific societies. We discuss the treatment of colorectal cancers in Lynch syndrome cases and patient adherence to endoscopic follow-up programs.
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Affiliation(s)
- Raphael Olivier
- Gastroenterology Department, Poitiers University Hospital (CHU de Poitiers), 86000 Poitiers, France; (V.R.); (D.T.)
| | - Violaine Randrian
- Gastroenterology Department, Poitiers University Hospital (CHU de Poitiers), 86000 Poitiers, France; (V.R.); (D.T.)
| | - David Tougeron
- Gastroenterology Department, Poitiers University Hospital (CHU de Poitiers), 86000 Poitiers, France; (V.R.); (D.T.)
| | - Jean-Christophe Saurin
- Gastroenterology Department, Hospices Civils de Lyon—Centre Hospitalier Universitaire, 69002 Lyon, France;
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12
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Rosa B, Margalit-Yehuda R, Gatt K, Sciberras M, Girelli C, Saurin JC, Cortegoso Valdivia P, Cotter J, Eliakim R, Caprioli F, Baatrup G, Keuchel M, Ellul P, Toth E, Koulaouzidis A. Scoring systems in clinical small-bowel capsule endoscopy: all you need to know! Endosc Int Open 2021; 9:E802-E823. [PMID: 34079861 PMCID: PMC8159625 DOI: 10.1055/a-1372-4051] [Citation(s) in RCA: 22] [Impact Index Per Article: 5.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/01/2020] [Accepted: 11/26/2020] [Indexed: 02/08/2023] Open
Abstract
AbstractCapsule endoscopy (CE) emerged out of the pressing clinical need to image the small bowel (SB) in cases of midgut bleeding and provide an overall comfortable and reliable gastrointestinal (GI) diagnosis 1. Since its wider adoption in clinical practice, significant progress has been made in several areas including software development, hardware features and clinical indications, while innovative applications of CE never cease to appear 2
3. Currently, several manufacturers provide endoscopic capsules with more or less similar technological features 4. Although there is engaging and continuous academic and industry-fueled R&D, promising furtherment of CE technology 4
5, the current status of clinical CE remains that of by and large an imaging modality. Clinical relevance of CE images is cornerstone in the decision-making process for medical management. In one of the larger to date SB CE studies, 4,206 abnormal images were detected in 3,280 patients 6. Thus, CE leads to the identification of a large amount of potential pathology, some of which are pertinent (or relevant) while some (probably the majority) are not.Soon artificial intelligence (AI) is likely to carry out several roles currently performed by humans; in fact, we are witnessing only the first stages of a transition in the clinical adoption of AI-based solutions in several aspects of gastroenterology including CE 7. Until then though, human-based decision-making profoundly impacts patient care and – although not suggested in the updated European Society of Gastrointestinal Endoscopy (ESGE) European curriculum 8
9 – it should be an integral part of CE training. Frequently, interpretation of CE images by experts or at least experienced readers differs. In a tandem CE reading study, expert review of discordant cases revealed a 50 % (13/25 discordant results) error rate by experienced readers, corresponding (in 5/13 cases) to ‘over-classification’ of an irrelevant abnormality 10. Another comparative study showed an ‘over-classification’ of such irrelevant abnormalities in ~10 % of CE readings 11. One thing which has been for a while on the table – in relation to optimizing and/or standardizing CE reporting and subsequent decision-making – is the need for reproducible scoring systems and for a reliable common language among clinicians responsible for further patient’s management.Over the years, several of these scoring systems were developed while others appear in the wake of software and hardware improvements aiming to replace and/or complement their predecessors. This review presents a comprehensive account of the currently available classification/scoring systems in clinical CE spanning from predicting the bleeding potential of identified SB lesions (with emphasis on vascular lesions), and the individual rebleeding risk; scoring systems for the prediction of SB lesions in patients with obscure gastrointestinal bleeding (OGlB), having the potential to improve patient selection and rationalize the use of enteroscopy, with better allocation of resources, optimized diagnostic workflow and tailored treatment. This review also includes scores for reporting the inflammatory burden, the cleansing level that underscores confidence in CE reporting and the mass or bulge question in CE. Essentially, the aim is to become a main text for reference when scoring is required and facilitate the inclusion of -through readiness of access- one of the other in the final report.
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Affiliation(s)
- Bruno Rosa
- Gastroenterology Department, Hospital da Senhora da Oliveira, Guimarães, Portugal
- Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho-Braga. Portugal
- ICVS/3B’s, PT Government Associate Laboratory – Braga/Guimarães, Portugal.
| | - Reuma Margalit-Yehuda
- Department of Gastroenterology, Sheba Medical Center, Sackler School of Medicine, Tel-Aviv, Israel
| | - Kelly Gatt
- Division of Gastroenterology, Mater Dei Hospital, Msida, Malta
| | | | - Carlo Girelli
- Department of Internal Medicine, Gastroenterology & Digestive Endoscopy, Hospital of Busto Arsizio, Italy
| | - Jean-Christophe Saurin
- Hospices Civils de Lyon, Hôpital Edouard Herriot, Service d'Hépato-Gastro-Entérologie et d'Endoscopie Digestive, Lyon, France
| | - Pablo Cortegoso Valdivia
- Gastroenterology & Endoscopy Unit, University Hospital of Parma, University of Parma, Parma, Italy
| | - Jose Cotter
- Gastroenterology Department, Hospital da Senhora da Oliveira, Guimarães, Portugal
- Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho-Braga. Portugal
- ICVS/3B’s, PT Government Associate Laboratory – Braga/Guimarães, Portugal.
| | - Rami Eliakim
- Department of Gastroenterology, Sheba Medical Center, Sackler School of Medicine, Tel-Aviv, Israel
| | - Flavio Caprioli
- Unit of Gastroenterology and Endoscopy, Fondazione IRCCS Cà Granda, Ospedale Policlinico di Milano, Milan, Italy
| | - Gunnar Baatrup
- Department of Clinical Research, University of Southern Denmark, Odense, Denmark
| | - Martin Keuchel
- Clinic for Internal Medicine, Bethesda Krankenhaus Bergedorf, Hamburg, Germany
| | - Pierre Ellul
- Division of Gastroenterology, Mater Dei Hospital, Msida, Malta
| | - Ervin Toth
- Skåne University Hospital, Lund University, Malmö, Sweden
| | - Anastasios Koulaouzidis
- Endoscopy Unit, The Royal Infirmary of Edinburgh, Scotland, UK
- Department of Social Medicine & Public Health, Pomeranian Medical University, Szczecin, Poland
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Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez‐Rodriguez R, Sánchez‐Guillén L, Evans DG, Ryan N, Crosbie EJ, Dominguez‐Valentin M, Burn J, Kloor M, von Knebel Doeberitz M, van Duijnhoven FJB, Quirke P, Sampson JR, Møller P, Möslein G, the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP). European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. Br J Surg 2021; 108:484-498. [PMID: 34043773 PMCID: PMC10364896 DOI: 10.1002/bjs.11902] [Citation(s) in RCA: 138] [Impact Index Per Article: 34.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2020] [Revised: 05/16/2020] [Accepted: 06/14/2020] [Indexed: 12/11/2022]
Abstract
BACKGROUND Lynch syndrome is the most common genetic predisposition for hereditary cancer but remains underdiagnosed. Large prospective observational studies have recently increased understanding of the effectiveness of colonoscopic surveillance and the heterogeneity of cancer risk between genotypes. The need for gene- and gender-specific guidelines has been acknowledged. METHODS The European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) developed a multidisciplinary working group consisting of surgeons, clinical and molecular geneticists, pathologists, epidemiologists, gastroenterologists, and patient representation to conduct a graded evidence review. The previous Mallorca guideline format was used to revise the clinical guidance. Consensus for the guidance statements was acquired by three Delphi voting rounds. RESULTS Recommendations for clinical and molecular identification of Lynch syndrome, surgical and endoscopic management of Lynch syndrome-associated colorectal cancer, and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum. Manchester consensus guidelines for gynaecological management were endorsed. Executive and layperson summaries were provided. CONCLUSION The recommendations from the EHTG and ESCP for identification of patients with Lynch syndrome, colorectal surveillance, surgical management of colorectal cancer, lifestyle and chemoprevention in Lynch syndrome that reached a consensus (at least 80 per cent) are presented.
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Affiliation(s)
- T T Seppälä
- Department of Surgery, Helsinki University Hospital, and University of Helsinki, Helsinki, Finland
- Department of Surgical Oncology, Johns Hopkins Hospital, Baltimore Maryland, USA
| | - A Latchford
- Department of Cancer and Surgery, Imperial College London, UK
- St Mark's Hospital, London North West Healthcare NHS Trust, London, UK
| | - I Negoi
- Department of Surgery, Emergency Hospital of Bucharest, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
| | | | - R Jimenez‐Rodriguez
- Department of Surgery, Hospital Universitario Virgen del Rocío, Seville, Spain
| | - L Sánchez‐Guillén
- Colorectal Unit, Department of General Surgery, Elche University General Hospital Elche, Alicante, Spain
| | - D G Evans
- Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, University of Manchester, Manchester University Hospitals NHS Foundation Trust, UK
| | - N Ryan
- Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, St Mary's Hospital, Manchester, UK
- Centre for Academic Women's Health, University of Bristol, Bristol, UK
| | - E J Crosbie
- Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, St Mary's Hospital, Manchester, UK
| | - M Dominguez‐Valentin
- Department of Tumour Biology, Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
| | - J Burn
- Faculty of Medical Sciences, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
| | - M Kloor
- Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Germany
- Cooperation Unit Applied Tumour Biology, German Cancer Research Centre, Heidelberg, Germany
| | - M von Knebel Doeberitz
- Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Germany
- Cooperation Unit Applied Tumour Biology, German Cancer Research Centre, Heidelberg, Germany
| | - F J B van Duijnhoven
- Division of Human Nutrition and Health, Wageningen University and Research, Wageningen, the Netherlands
| | - P Quirke
- Pathology and Data Analytics, School of Medicine, University of Leeds, Leeds, UK
| | - J R Sampson
- Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Heath Park, Cardiff, UK
| | - P Møller
- Department of Tumour Biology, Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
- University of Witten/Herdecke, Witten, Germany
| | - G Möslein
- Centre for Hereditary Tumours, Bethesda Hospital, Duisburg, Germany
- University of Witten/Herdecke, Witten, Germany
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Vanoli A, Grillo F, Furlan D, Arpa G, Grami O, Guerini C, Riboni R, Mastracci L, Di Sabatino A. Small Bowel Epithelial Precursor Lesions: A Focus on Molecular Alterations. Int J Mol Sci 2021; 22:4388. [PMID: 33922305 PMCID: PMC8122855 DOI: 10.3390/ijms22094388] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/02/2021] [Revised: 04/18/2021] [Accepted: 04/20/2021] [Indexed: 12/15/2022] Open
Abstract
The wider use of gastrointestinal endoscopic procedures has led to an increased detection of small intestinal preneoplastic and neoplastic epithelial lesions, most of which are identified in the duodenum and ampullary region. Like their malignant counterparts, small intestinal glandular precursor lesions, which include adenomas and hamartomas, may arise sporadically or be associated with hereditary tumor syndromes, such as familial adenomatous polyposis, MUTYH-associated polyposis, Lynch syndrome, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and Cowden syndrome. In addition, dysplastic, preinvasive lesions have been observed adjacent to small bowel adenocarcinomas complicating immune-related disorders, such as celiac or Crohn's disease. Adenomatous lesions may exhibit an intestinal-type, gastric-type, or, very rarely, serrated differentiation, related to different molecular pathogenetic mechanisms. Finally, in the background of multiple endocrine neoplasia 1 syndrome, precursor neuroendocrine growths have been described. In this review we offer a comprehensive description on the histo-molecular features of the main histotypes of small bowel epithelial precursors lesions, including: (i) sporadic adenomas (intestinal-type and gastric-type; non-ampullary and ampullary); (ii) syndromic adenomas; (iii) small bowel dysplasia in celiac and Crohn's disease; (iv) serrated lesions; (v) hamartomatous lesions; and (vi) neuroendocrine precursor lesions.
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Affiliation(s)
- Alessandro Vanoli
- Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Lombardy, Italy; (G.A.); (O.G.); (C.G.); (R.R.)
| | - Federica Grillo
- Pathology Unit, Department of Surgical and Diagnostic Sciences, University of Genoa and Ospedale Policlinico San Martino University Hospital, 16132 Genoa, Liguria, Italy; (F.G.); (L.M.)
| | - Daniela Furlan
- Pathology Unit, Department of Medicine and Surgery, University of Insubria, 21100 Varese, Lombardy, Italy;
| | - Giovanni Arpa
- Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Lombardy, Italy; (G.A.); (O.G.); (C.G.); (R.R.)
| | - Oneda Grami
- Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Lombardy, Italy; (G.A.); (O.G.); (C.G.); (R.R.)
| | - Camilla Guerini
- Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Lombardy, Italy; (G.A.); (O.G.); (C.G.); (R.R.)
| | - Roberta Riboni
- Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Lombardy, Italy; (G.A.); (O.G.); (C.G.); (R.R.)
| | - Luca Mastracci
- Pathology Unit, Department of Surgical and Diagnostic Sciences, University of Genoa and Ospedale Policlinico San Martino University Hospital, 16132 Genoa, Liguria, Italy; (F.G.); (L.M.)
| | - Antonio Di Sabatino
- Department of Internal Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, 27100 Pavia, Lombardy, Italy;
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15
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Double small bowel cancers leading to the diagnosis of Lynch syndrome with germline MSH6 mutation in an elderly patient. Clin J Gastroenterol 2020; 13:766-770. [PMID: 32519314 DOI: 10.1007/s12328-020-01147-y] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/17/2020] [Accepted: 05/26/2020] [Indexed: 12/21/2022]
Abstract
A female patient in her 80s was referred to our hospital because of an ileal tumor identified by capsule endoscopy. FDG-PET suggested double intestinal tumors not only in the ileum but also in the jejunum. The patient has cancer past history including sigmoid colon, rectum, and endometrium, and also had cancer family history fulfilling the revised Amsterdam criteria. Double balloon enteroscopy disclosed two ulcerated tumors in the jejunum and the ileum. Biopsy was diagnosed as adenocarcinoma pathologically, and microsatellite instability-high (MSI-H) genetically. Surgical resection was performed, and the jejunal and the ileal tumors were tubular (T2N0M0) and mucinous adenocarcinoma (T4N0M0), respectively. Germline mutation analysis revealed a pathogenic splice-site mutation in MSH6.
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16
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Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut 2020; 69:411-444. [PMID: 31780574 PMCID: PMC7034349 DOI: 10.1136/gutjnl-2019-319915] [Citation(s) in RCA: 287] [Impact Index Per Article: 57.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/20/2019] [Revised: 10/25/2019] [Accepted: 11/05/2019] [Indexed: 12/12/2022]
Abstract
Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual's lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.
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Affiliation(s)
- Kevin J Monahan
- Family Cancer Clinic, St Mark's Hospital, London, UK
- Faculty of Medicine, Imperial College, London, UK
| | - Nicola Bradshaw
- Clinical Genetics, West of Scotland Genetics Services, Glasgow, Glasgow, UK
| | - Sunil Dolwani
- Gastroenterology, Cardiff and Vale NHS Trust, Cardiff, UK
| | - Bianca Desouza
- Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK
| | | | - James E East
- Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK
- Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
| | - Mohammad Ilyas
- Faculty of Medicine & Health Sciences, Nottingham University, Nottingham, UK
| | - Asha Kaur
- Head of Policy and Campaigns, Bowel Cancer UK, London, UK
| | - Fiona Lalloo
- Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK
| | | | - Matthew D Rutter
- Gastroenterology, University Hospital of North Tees, Stockton-on-Tees, UK
- Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK
| | - Ian Tomlinson
- Nuffield Department of Clinical Medicine, Wellcome Trust Centre for Human Genetics, Birmingham, UK
- Cancer Research Centre, University of Edinburgh, Edinburgh, UK
| | - Huw J W Thomas
- Family Cancer Clinic, St Mark's Hospital, London, UK
- Faculty of Medicine, Imperial College, London, UK
| | - James Hill
- Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK
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17
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Taggart MW, Foo WC, Lee SM. Tumors of the Gastrointestinal System Including the Pancreas. ONCOLOGICAL SURGICAL PATHOLOGY 2020:691-870. [DOI: 10.1007/978-3-319-96681-6_12] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/06/2025]
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18
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Kim JY, Byeon JS. Genetic Counseling and Surveillance Focused on Lynch Syndrome. JOURNAL OF THE ANUS RECTUM AND COLON 2019; 3:60-68. [PMID: 31559369 PMCID: PMC6752118 DOI: 10.23922/jarc.2019-002] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 01/18/2019] [Accepted: 02/08/2019] [Indexed: 12/20/2022]
Abstract
Lynch syndrome is a hereditary cancer syndrome caused by germline mutations in one of several DNA mismatch repair genes. Lynch syndrome leads to an increased lifetime risk of various cancers, particularly colorectal, and endometrial cancers. After identifying patients suspected of having Lynch syndrome by clinical criteria, computational prediction models, and/or universal tumor testing, genetic testing is performed to confirm the diagnosis. Before and after genetic testing, genetic counseling should be provided. Genetic counseling should involve a detailed personal and family history, information on the disorder and genetic tests, discussion of the management and surveillance of the disease, career plan, family plan, and psychosocial support. Surveillance of colorectal cancer and other malignancies is of paramount importance for properly managing Lynch syndrome. This review focuses on important considerations in genetic counseling and the latest insights into the surveillance of individuals and families with Lynch syndrome.
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Affiliation(s)
- Jin Yong Kim
- Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
| | - Jeong-Sik Byeon
- Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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19
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Management of small bowel polyps: from small to big. Curr Opin Gastroenterol 2019; 35:250-256. [PMID: 30844897 DOI: 10.1097/mog.0000000000000518] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/10/2022]
Abstract
PURPOSE OF REVIEW Benign small bowel polyps or mass are clinically poorly distinguishable from malignant small bowel masses, and the diagnostic conditions are almost the same. The important point for clinicians is first to take advantage of the different available diagnostic tools to optimize the diagnostic algorithm of a small bowel polyp or mass. Next, according to the clinical situation, associated disease or sporadic situation, the difficulty is to adapt the treatment decision to the patient situation. RECENT FINDINGS The last 20 years have been marked by the development of major diagnostic tools for small bowel diseases (capsule endoscopy, cross-sectional imaging with enteroclysis and balloon-assisted enteroscopy) and by the major decrease of intra-operative enteroscopy as a diagnostic mean. SUMMARY On the basis of considerable development of capsule endoscopy and the improvement of cross-sectional small bowel imagining, small bowel polyps represent now a frequent clinical situation for gastroenterologists.
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20
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Abstract
BACKGROUND AND AIMS Lynch syndrome (LS) is associated with an increased risk of small bowel tumors but routine screening is not recommended in international guidelines. The aim of our study was to determinate the prevalence of duodenal tumors in a French cohort of LS patients. METHODS Patients carrying a germline pathogenic variant in a MMR gene, supported by our local network, in which at least one upper endoscopy had been performed, were included. We registered the occurrence of duodenal lesions in those patients. RESULTS 154 LS patients were identified including respectively 85 MSH2 and 41 MLH1 mutated patients respectively. Seven out of 154 (4.5%) had at least one duodenal lesion. Median age at diagnosis was 58 years (range: 49-73). The twelve lesions locations were: descending duodenum (n = 7), genu inferius (n = 2), duodenal bulb (n = 1), ampulla (n = 1), fourth duodenum (n = 1). Three lesions were invasive adenocarcinomas. The incidence rate of duodenal lesions in patients with MSH2 or MLH1 pathogenic variants was respectively 7.1% (6 out of 85) and 2.4% (1 out of 41) emphasizing a trend toward increased risk of developing duodenal lesion in MSH2 mutated patients: OR: 5.17, IC95% (0.8-60.07), p = 0.1307. CONCLUSION Regarding this high prevalence rate, especially in MSH2 patients, regular duodenal screening during upper endoscopy should be considered in routine in LS patients.
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21
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Sanchez-Mete L, Stigliano V. Update on small bowel surveillance in hereditary colorectal cancer syndromes. TUMORI JOURNAL 2018; 105:12-21. [PMID: 30117372 DOI: 10.1177/0300891618792461] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2022]
Abstract
Despite its rarity in the general population, small bowel adenocarcinoma risk is increased in individuals with hereditary colorectal cancer syndromes (HCCS). In the last decade, the advent of capsule endoscopy and device-assisted balloon enteroscopy procedures in patients with HCCS have allowed to investigate the whole small bowel, increasing the diagnostic yield of small bowel tumor. Nonetheless, there is a significant variability in the international guideline recommendations. The aim of this review is to provide an update on surveillance of small bowel in HCCS and to identify the key points for the clinical management of these patients.
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Affiliation(s)
- Lupe Sanchez-Mete
- Division of Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, Rome, Italy
| | - Vittoria Stigliano
- Division of Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, Rome, Italy
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22
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Added value of double reading in diagnostic radiology,a systematic review. Insights Imaging 2018; 9:287-301. [PMID: 29594850 PMCID: PMC5990995 DOI: 10.1007/s13244-018-0599-0] [Citation(s) in RCA: 68] [Impact Index Per Article: 9.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/02/2017] [Revised: 01/10/2018] [Accepted: 01/15/2018] [Indexed: 01/10/2023] Open
Abstract
Objectives Double reading in diagnostic radiology can find discrepancies in the original report, but a systematic program of double reading is resource consuming. There are conflicting opinions on the value of double reading. The purpose of the current study was to perform a systematic review on the value of double reading. Methods A systematic review was performed to find studies calculating the rate of misses and overcalls with the aim of establishing the added value of double reading by human observers. Results The literature search resulted in 1610 hits. After abstract and full-text reading, 46 articles were selected for analysis. The rate of discrepancy varied from 0.4 to 22% depending on study setting. Double reading by a sub-specialist, in general, led to high rates of changed reports. Conclusions The systematic review found rather low discrepancy rates. The benefit of double reading must be balanced by the considerable number of working hours a systematic double-reading scheme requires. A more profitable scheme might be to use systematic double reading for selected, high-risk examination types. A second conclusion is that there seems to be a value of sub-specialisation for increased report quality. A consequent implementation of this would have far-reaching organisational effects. Key Points • In double reading, two or more radiologists read the same images. • A systematic literature review was performed. • The discrepancy rates varied from 0.4 to 22% in various studies. • Double reading by sub-specialists found high discrepancy rates. Electronic supplementary material The online version of this article (10.1007/s13244-018-0599-0) contains supplementary material, which is available to authorised users.
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de Latour RA, Kilaru SM, Gross SA. Management of small bowel polyps: A literature review. Best Pract Res Clin Gastroenterol 2017; 31:401-408. [PMID: 28842049 DOI: 10.1016/j.bpg.2017.06.003] [Citation(s) in RCA: 20] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/27/2017] [Accepted: 06/25/2017] [Indexed: 02/07/2023]
Abstract
Despite the small bowel comprising 90% of the mucosal surface area of the gastrointestinal tract, it is a rare site for neoplasia and only accounts for a little over 3% of the tumors that arise in the digestive tract. Benign small bowel lesions include lipomas, lymphangiomas, leiomyomas, neurofibromas, nodular lymphoid hyperplasia and adenomas, many of which are precursors to malignant lesions. Several polyposis syndromes are associated with small bowel polyps as well, including familial adenomatous polyposis syndrome, lynch syndrome, Peutz-Jeghers syndrome, Cowden syndrome and juvenile polyposis syndrome. Our aim was to review non-malignant small bowel polyps and discuss the prevalence, typical location, clinical presentation, diagnosis, endoscopic and histologic description and lastly management of each of these lesions.
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Affiliation(s)
- Rabia A de Latour
- New York University School of Medicine, Department of Gastroenterology, 240 East 38th Street, 23rd Floor, New York, NY 10016, USA.
| | - Saikiran M Kilaru
- New York University School of Medicine, Department of Gastroenterology, 240 East 38th Street, 23rd Floor, New York, NY 10016, USA.
| | - Seth A Gross
- New York University School of Medicine, Department of Gastroenterology, 240 East 38th Street, 23rd Floor, New York, NY 10016, USA.
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24
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Yamamoto H, Ogata H, Matsumoto T, Ohmiya N, Ohtsuka K, Watanabe K, Yano T, Matsui T, Higuchi K, Nakamura T, Fujimoto K. Clinical Practice Guideline for Enteroscopy. Dig Endosc 2017; 29:519-546. [PMID: 28370422 DOI: 10.1111/den.12883] [Citation(s) in RCA: 115] [Impact Index Per Article: 14.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Abstract
Management of small bowel diseases has evolved since the advent of capsule endoscopy (CE) and balloon-assisted enteroscopy (BAE). One of the most common indications for enteroscopy is obscure gastrointestinal bleeding (OGIB), followed by small bowel stenosis, tumors, and inflammatory bowel disease. Although enteroscopes have been regarded as useful tools, correct guidelines are required to ensure that we manipulate these enteroscopes safely and efficiently in clinical practice. Herein, the Japanese Gastroenterological Endoscopy Society has developed 'Clinical Practice Guidelines for Enteroscopy' in collaboration with the Japanese Society of Gastroenterology, the Japanese Gastroenterological Association, and the Japanese Association for Capsule Endoscopy. These guidelines are based on the evidence available until now, but small bowel endoscopy is a relatively new technology, so the guidelines include recommendations based on a consensus reached among experts when the evidence has not been considered sufficient. These guidelines were not designed to be disease-based, but focus on how we should use small bowel CE and BAE in everyday clinical practice.
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Affiliation(s)
| | - Haruhiko Ogata
- Japan Gastroenterological Endoscopy Society
- Japanese Society of Gastroenterology
| | - Takayuki Matsumoto
- Japan Gastroenterological Endoscopy Society
- Japanese Gastroenterological Association
| | - Naoki Ohmiya
- Japan Gastroenterological Endoscopy Society
- Japanese Association for Capsule Endoscopy
| | - Kazuo Ohtsuka
- Japan Gastroenterological Endoscopy Society
- Japanese Gastroenterological Association
| | - Kenji Watanabe
- Japanese Society of Gastroenterology
- Japanese Association for Capsule Endoscopy
| | - Tomonori Yano
- Japan Gastroenterological Endoscopy Society
- Japanese Association for Capsule Endoscopy
| | - Toshiyuki Matsui
- Japan Gastroenterological Endoscopy Society
- Japanese Gastroenterological Association
| | - Kazuhide Higuchi
- Japan Gastroenterological Endoscopy Society
- Japanese Society of Gastroenterology
| | - Tetsuya Nakamura
- Japan Gastroenterological Endoscopy Society
- Japanese Society of Gastroenterology
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25
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Haanstra JF, Al-Toma A, Dekker E, Vanhoutvin SA, Nagengast FM, Mathus-Vliegen EM, van Leerdam ME, de Vos tot Nederveen Cappel WH, Veenendaal RA, Cats A, Sanduleanu S, Vasen HF, Kleibeuker JH, Koornstra JJ. Incidence of small bowel neoplasia in Lynch syndrome assessed by video capsule endoscopy. Endosc Int Open 2017; 5:E622-E626. [PMID: 28691043 PMCID: PMC5500106 DOI: 10.1055/s-0043-111723] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/15/2016] [Accepted: 05/15/2017] [Indexed: 01/20/2023] Open
Abstract
BACKGROUND AND STUDY AIMS Lynch syndrome (LS) patients have an increased risk of small bowel cancer. The question is whether surveillance will lead to early detection of (pre)malignant lesions. We recently reported on prevalence of small bowel neoplasia (SBN) in LS patients as assessed by video capsule endoscopy (VCE). The aim of this prospective study was to determine the incidence of SBN. PATIENTS AND METHODS Asymptomatic LS patients who underwent a VCE were invited to undergo a second VCE procedure 2 years later. If abnormalities or polypoid lesions larger than 1 cm were detected, subsequent endoscopic procedures were performed. RESULTS A total of 155 (78 %) of the initial 200 patients underwent a second VCE procedure after a mean of 2.2 (range 1 - 6) years. In 17 of the 155 (11 %) patients possibly significant lesions were detected, which required further investigation by means of gastroduodenoscopy (n = 8) or balloon-assisted endoscopy (n = 9). These procedures revealed no SBN. CONCLUSION No SBN was found after 2 years. Surveillance of the small bowel by VCE does not seem to be warranted in asymptomatic LS patients.
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Affiliation(s)
- Jasmijn F. Haanstra
- Department of gastroenterology and hepatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands,Department of gastroenterology and hepatology, Isala, Zwolle, The Netherlands
| | - Abdul Al-Toma
- Department of gastroenterology and hepatology, St Antonius Hospital, Nieuwegein, The Netherlands
| | - Evelien Dekker
- Department of gastroenterology and hepatology, Amsterdam Medical Center, Amsterdam, The Netherlands
| | - Steven A.L.W Vanhoutvin
- Department of gastroenterology and hepatology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NKI-AVL), Amsterdam, The Netherlands
| | - Fokko M. Nagengast
- Department of gastroenterology and hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
| | | | - Monique E. van Leerdam
- Department of gastroenterology and hepatology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NKI-AVL), Amsterdam, The Netherlands,Dept of gastroenterology and hepatology, Erasmus Medical Center, Rotterdam, The Netherlands
| | | | - Roeland A. Veenendaal
- Department of gastroenterology and hepatology, Leiden University Medical Center, Leiden, The Netherlands
| | - Annemieke Cats
- Department of gastroenterology and hepatology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NKI-AVL), Amsterdam, The Netherlands
| | - Silvia Sanduleanu
- Department of gastroenterology and hepatology, Maastricht University Medical Center, Maastricht, The Netherlands
| | - Hans F.A. Vasen
- Department of gastroenterology and hepatology, Leiden University Medical Center, Leiden, The Netherlands,The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands
| | - Jan H. Kleibeuker
- Department of gastroenterology and hepatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Jan J. Koornstra
- Department of gastroenterology and hepatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands,Corresponding author J. J. Koornstra, MD, PhD Department of Gastroenterology and HepatologyUniversity Medical Center GroningenP.O. Box 300019700 RB Groningenthe Netherlands+31 050 3619306
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Viala J, Michaud L, Bellaiche M, Lachaux A. [When and how should small-bowel capsule endoscopy be used in children?]. Arch Pediatr 2017; 24:391-398. [PMID: 28279616 DOI: 10.1016/j.arcped.2017.01.003] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/19/2016] [Revised: 10/28/2016] [Accepted: 01/05/2017] [Indexed: 02/08/2023]
Abstract
Small-bowel capsule endoscopy (CE) has recently been used in children. During the past few years, an intense research activity has defined the advantages and limitations of CE. Its uses have been established in several small-bowel pathologies such as obvious or obscure digestive bleeding, Crohn disease, and hereditary polyposis. Although the absence of biopsy reduces the specificity of CE findings, small-bowel exploration using CE achieves better accuracy in detecting lesions than most radiological examinations. In children, swallowing problems and the risk of retention due to stenosis are the main concerns when using CE: these problems can be solved using endoscopic delivery of the capsule and luminal diameter calibration, respectively. This review focuses on the evidence making CE indispensable to small-bowel exploration.
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Affiliation(s)
- J Viala
- Service des maladies digestives et respiratoires pédiatriques, hôpital Robert-Debré, Assistance publique-Hôpitaux de Paris, 48, boulevard Sérurier, 75019 Paris, France; Inserm UMR1149, université Paris Diderot, Sorbonne Paris Cité, 24, rue Henri-Huchard, 75018 Paris, France.
| | - L Michaud
- Unité de gastro-entérologie, hépatologie et nutrition, pôle enfant, centre de référence des affections congénitales et malformatives de l'œsophage (CRACMO), hôpital Jeanne-de-Flandre, faculté de médecine, université Lille 2, 59000 Lille, France
| | - M Bellaiche
- Service des maladies digestives et respiratoires pédiatriques, hôpital Robert-Debré, Assistance publique-Hôpitaux de Paris, 48, boulevard Sérurier, 75019 Paris, France
| | - A Lachaux
- Service de gastro-entérologie hépatologie et nutrition pédiatrique, hospices civils de Lyon, HFME du CHU de Lyon, université Claude-Bernard Lyon 1, 69500 Bron, France
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Shenoy S. Genetic risks and familial associations of small bowel carcinoma. World J Gastrointest Oncol 2016; 8:509-519. [PMID: 27326320 PMCID: PMC4909452 DOI: 10.4251/wjgo.v8.i6.509] [Citation(s) in RCA: 30] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/23/2015] [Revised: 02/02/2016] [Accepted: 03/14/2016] [Indexed: 02/05/2023] Open
Abstract
Adenocarcinoma of small intestines (SBA) is a relatively rare malignancy with poor outcomes due to delayed diagnosis. Fifty percent of patients have metastases on presentation and therefore early detection and treatment offers the best long term outcomes. Certain genetic polyposis syndromes and familial diseases are associated with increased risks for SBA. These include familial adenomatous polyposis (FAP), Lynch syndromes (LS), Juvenile polyposis syndrome, Peutz-Jeghers syndrome, Crohn's disease (CD) and celiac disease. Mutations in APC gene, Mismatch repair genes, STK11 gene, and SMAD4 gene have been implicated for the genetic diseases respectively. While there are no specific inherited genetic mutations for CD, genome-wide association studies have established over 140 loci associated with CD. CpG island mutations with defects in mismatch repair genes have been identified in celiac disease. Significant diagnostic advances have occurred in the past decade and intuitively, it would seem beneficial to use these advanced modalities for surveillance of these patients. At present it is debatable and no clear data exists to support this approach except for established guidelines to diagnose duodenal polyps in FAP, and LS. Here we discuss the genetic alterations, cancer risks, signaling mechanisms and briefly touch the surveillance modalities available for these genetic and clinical syndromes. English language articles from PubMed/Medline and Embase was searched were collected using the phrases "small-bowel adenocarcinoma, genetics, surveillance, familial adenomatous polyposis, lynch syndromes, Peutz-Jeghers syndrome, juvenile polyposis syndrome, CD and celiac disease". Figures, tables and schematic diagram to illustrate pathways are included in the review.
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Abstract
Lynch syndrome (LS) is the most common of all inherited cancer syndromes, associated with substantially elevated risks for colonic and extracolonic malignancies, earlier onset and high rates of multiple primary cancers. At the genetic level, it is caused by a defective mismatch repair (MMR) system due to presence of germline defects in at least one of the MMR genes- MLH1, MSH2, MSH6, PMS2 or EPCAM. An impaired MMR function during replication introduces infidelity in DNA sequence and leads to ubiquitous mutations at simple repetitive sequences (microsatellites), causing microsatellite instability (MSI). Although previously, clinicopathological criteria such as Amsterdam I/II and Revised Bethesda Guidelines were commonly used to identify suspected LS mutation carriers, there has been a recent push towards universally testing, especially in case of colorectal cancers (CRCs), through immunohistochemistry for expression of MMR proteins or through molecular tests (polymerase chain reaction, PCR) for MSI, in order to identify LS mutation carriers and subject them to genetic testing to ascertain the specific gene implicated. In this review, we have discussed the latest diagnostic strategies and the current screening and treatment guidelines for colonic and extracolonic cancers in clinically affected and at-risk individuals for LS.
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Affiliation(s)
- A K Tiwari
- From the Section of Gastroenterology, Boston University Medical Center, Boston, MA, USA and
| | - H K Roy
- From the Section of Gastroenterology, Boston University Medical Center, Boston, MA, USA and
| | - H T Lynch
- Department of Preventive Medicine and Public Health, Creighton University, Omaha NE, USA
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Haanstra JF, Al-Toma A, Dekker E, Vanhoutvin SALW, Nagengast FM, Mathus-Vliegen EM, van Leerdam ME, de Vos tot Nederveen Cappel WH, Sanduleanu S, Veenendaal RA, Cats A, Vasen HFA, Kleibeuker JH, Koornstra JJ. Prevalence of small-bowel neoplasia in Lynch syndrome assessed by video capsule endoscopy. Gut 2015; 64:1578-83. [PMID: 25209657 DOI: 10.1136/gutjnl-2014-307348] [Citation(s) in RCA: 34] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/10/2014] [Accepted: 08/20/2014] [Indexed: 12/22/2022]
Abstract
OBJECTIVE The aim was to determine the prevalence of small-bowel neoplasia in asymptomatic patients with Lynch syndrome (LS) by video capsule endoscopy (VCE). DESIGN After obtaining informed consent, asymptomatic proven gene mutation carriers aged 35-70 years were included in this prospective multicentre study in the Netherlands. Patients with previous small-bowel surgery were excluded. After bowel preparation, VCE was performed. The videos were read by two independent investigators. If significant lesions were detected, an endoscopic procedure was subsequently performed to obtain histology and, if possible, remove the lesion. RESULTS In total, 200 patients (mean age 50 years (range 35-69), M/F 88/112), with proven mutations were included. These concerned MLH1 (n = 50), MSH2 (n = 68), MSH6 (n = 76), PMS2 (n = 3) and Epcam (n = 3) mutation carriers. In 95% of the procedures, caecal visualisation was achieved. Small-bowel neoplasia was detected in two patients: one adenocarcinoma (TisN0Mx) and one adenoma, both located in the duodenum. In another patient, a duodenal cancer (T2N0Mx) was diagnosed 7 months after a negative VCE. This was considered a lesion missed by VCE. All three neoplastic lesions were within reach of a conventional gastroduodenoscope. All patients with neoplasia were men, over 50 years of age and without a family history of small-bowel cancer. CONCLUSIONS The prevalence of small-bowel neoplasia in asymptomatic patients with LS was 1.5%. All neoplastic lesions were located in the duodenum and within reach of conventional gastroduodenoscopy. Although VCE has the potential to detect these neoplastic lesions, small-bowel neoplasia may be missed. TRIAL REGISTRATION NUMBER NCT00898768.
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Affiliation(s)
- Jasmijn F Haanstra
- Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
| | - Abdul Al-Toma
- Department of Gastroenterology and Hepatology, St Antonius Hospital, Nieuwegein, The Netherlands
| | - Evelien Dekker
- Department of Gastroenterology and Hepatology, Amsterdam Medical Center, Amsterdam, The Netherlands
| | - Steven A L W Vanhoutvin
- Department of Gastroenterology and Hepatology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NKI-AVL), Amsterdam, The Netherlands
| | - Fokko M Nagengast
- Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
| | | | - Monique E van Leerdam
- Department of Gastroenterology and Hepatology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NKI-AVL), Amsterdam, The Netherlands Department of Gastroenterology and Hepatology, Erasmus Medical Center, Rotterdam, The Netherlands
| | | | - Silvia Sanduleanu
- Department of Gastroenterology and Hepatology, Maastricht University Medical Center, Maastricht, The Netherlands
| | - Roeland A Veenendaal
- Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands
| | - Annemieke Cats
- Department of Gastroenterology and Hepatology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NKI-AVL), Amsterdam, The Netherlands
| | - Hans F A Vasen
- Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands
| | - Jan H Kleibeuker
- Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
| | - Jan J Koornstra
- Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
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Management of Patients with Hereditary Colorectal Cancer Syndromes. GE-PORTUGUESE JOURNAL OF GASTROENTEROLOGY 2015; 22:204-212. [PMID: 28868409 PMCID: PMC5580105 DOI: 10.1016/j.jpge.2015.06.003] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 02/17/2015] [Accepted: 06/13/2015] [Indexed: 12/16/2022]
Abstract
Colorectal cancer (CRC) is one of the most important causes of death in the world. Hereditary CRC is found in 5–10% of CRC patients. In this review, we will focus on the major forms of hereditary CRC and their management according to the most recent literature available.
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Lourensz K, Jones I. Considerations and management of a patient with three metachronous cancers in association with Lynch syndrome and ileal Crohn's disease: A case report. Int J Surg Case Rep 2015; 10:73-5. [PMID: 25805613 PMCID: PMC4430090 DOI: 10.1016/j.ijscr.2015.03.034] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/03/2015] [Accepted: 03/17/2015] [Indexed: 12/13/2022] Open
Abstract
We describe a patient with three metachronous tumors in association with Lynch syndrome and ileal Crohn’s disease. Surgical management strategies need to be carefully considered and individualized to ensure the best oncologic and functional outcome for the patient. A sound knowledge of the clinical features of Lynch syndrome is critical to ensure adequate surveillance for early detection of anticipated neoplasms. The use of immunosuppressive drugs in the medical management of Crohn’s disease needs to be undertaken with the knowledge that such drugs might have an impact on oncologic outcome. Introduction Lynch syndrome and Crohn’s disease are two entirely separate conditions but each have major gastrointestinal characteristics and carry a substantial increase in the risk of intestinal malignancy. Their co-existence in the patient who is the subject of this report dictated the need for an individualised treatment plan to deal with both conditions adequately. Presentation of case We report a case of a 51 year old female with a past medical history that includes Lynch syndrome and small bowel Crohn’s disease. Over a period of fifteen months, she developed three separate primary metachronous tumors in her endometrium, colon and duodenum. Discussion A patient with a combination of Lynch syndrome and ileal Crohn’s disease presents significant therapeutic implications that are not usually present when these conditions are treated in isolation. Conclusion The surgical treatment of patients with Lynch syndrome requires a sound knowledge of the possible neoplastic conditions that can arise in the syndrome. Early detection is paramount, either by implementation of evidence based surveillance programs or at least by a heightened clinical awareness of the features of this disease. Ideally this will result in both reduced surgical morbidity and improved oncologic outcome. Furthermore, the medical treatment of Crohn’s disease in a patient with tumors arising from Lynch syndrome must be undertaken with at least a consideration of the possibility that the use of immunosuppressive medication might increase the risk of cancer recurrence.
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Affiliation(s)
- Kaleb Lourensz
- Colorectal Surgery Unit, Royal Melbourne Hospital, Grattan St, Parkville, Victoria 3050, Australia.
| | - Ian Jones
- Colorectal Surgery Unit, Royal Melbourne Hospital, Grattan St, Parkville, Victoria 3050, Australia; Clinical Professorial Fellow, Department of Surgery, The University of Melbourne, Victoria 3050, Australia
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ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015; 110:223-62; quiz 263. [PMID: 25645574 PMCID: PMC4695986 DOI: 10.1038/ajg.2014.435] [Citation(s) in RCA: 1082] [Impact Index Per Article: 108.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/01/2014] [Accepted: 12/01/2014] [Indexed: 02/06/2023]
Abstract
This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.
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Bizzotto A, Riccioni ME, Landi R, Marmo C, Barbaro B, Costamagna G. Small-Bowel Tumors, Polyps, and Polyposis Syndromes. ENDOSCOPY IN SMALL BOWEL DISORDERS 2015:175-198. [DOI: 10.1007/978-3-319-14415-3_13] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/05/2025]
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Baltes P, Kurniawan N, Keuchel M. Capsule endoscopy in the evaluation of small bowel tumors and polyps. TECHNIQUES IN GASTROINTESTINAL ENDOSCOPY 2015. [DOI: 10.1016/j.tgie.2015.02.002] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
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Neumann H, Fry LC, Nägel A, Neurath MF. Wireless capsule endoscopy of the small intestine: a review with future directions. Curr Opin Gastroenterol 2014; 30:463-71. [PMID: 25029549 DOI: 10.1097/mog.0000000000000101] [Citation(s) in RCA: 24] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
PURPOSE OF REVIEW Here, we review the clinical applications of small bowel capsule endoscopy. Moreover, we provide an outlook on the exceptional future developments of small bowel capsule endoscopy. We discuss clinical algorithms for diagnosis of small bowel diseases. Multiple studies have shown the potential of capsule endoscopy for identification of the bleeding source located in the small bowel and the increased diagnostic yield over radiographic studies. Capsule endoscopy could detect villous atrophy and severe complications in patients with nonresponsive celiac disease. In addition, small bowel capsule endoscopy was proven as a valid tool to diagnose polyps and tumors and Crohn's disease. SUMMARY Major current clinical indications of capsule endoscopy in the small bowel include evaluation of obscure gastrointestinal bleeding, diagnosis and surveillance of small bowel polyps and tumors, celiac disease and Crohn's disease. Recent developments have also passed the way for small bowel capsule endoscopy to become a therapeutic instrument.
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Affiliation(s)
- Helmut Neumann
- aDepartment of Medicine I, University of Erlangen-Nürnberg, Erlangen bLudwig Demling Endoscopic Center of Excellence, University Hospital Erlangen, Erlangen, Germany cDivision of Gastroenterology and Hepatology, Basil Hirschowitz Endoscopic Center of Excellence, University of Alabama at Birmingham, Birmingham, Alabama, USA
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Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology 2014; 147:502-26. [PMID: 25043945 DOI: 10.1053/j.gastro.2014.04.001] [Citation(s) in RCA: 352] [Impact Index Per Article: 32.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/25/2022]
Abstract
The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provides a colorectal cancer risk assessment tool to screen individuals in the office or endoscopy setting; Figure 2 illustrates a strategy for universal screening for Lynch syndrome by tumor testing of patients diagnosed with colorectal cancer; Figures 3-6 provide algorithms for genetic evaluation of affected and at-risk family members of pedigrees with Lynch syndrome; Table 10 provides guidelines for screening at-risk and affected persons with Lynch syndrome; and Table 12 lists the guidelines for the management of patients with Lynch syndrome. A detailed explanation of Lynch syndrome and the methodology utilized to derive these guidelines, as well as an explanation of, and supporting literature for, these guidelines are provided.
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Affiliation(s)
| | - John I Allen
- Yale University School of Medicine, New Haven, Connecticut
| | | | | | | | | | | | - Jason A Dominitz
- VA Puget Sound Health Care System, Seattle, Washington; University of Washington, Seattle, Washington
| | | | | | | | | | - Douglas J Robertson
- White River Junction VA Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, White River Junction, Vermont
| | - Sapna Syngal
- Brigham and Women's Hospital, Boston, Massachusetts; Dana Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts
| | - Douglas K Rex
- Indiana University School of Medicine, Indianapolis, Indiana
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Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the U.S. Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc 2014; 80:197-220. [PMID: 25034835 DOI: 10.1016/j.gie.2014.06.006] [Citation(s) in RCA: 39] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/28/2022]
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Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. Am J Gastroenterol 2014; 109:1159-79. [PMID: 25070057 DOI: 10.1038/ajg.2014.186] [Citation(s) in RCA: 308] [Impact Index Per Article: 28.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Abstract
The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provides a colorectal cancer risk assessment tool to screen individuals in the office or endoscopy setting; Figure 2 illustrates a strategy for universal screening for Lynch syndrome by tumor testing of patients diagnosed with colorectal cancer; Figures 3,4,5,6 provide algorithms for genetic evaluation of affected and at-risk family members of pedigrees with Lynch syndrome; Table 10 provides guidelines for screening at-risk and affected persons with Lynch syndrome; and Table 12 lists the guidelines for the management of patients with Lynch syndrome. A detailed explanation of Lynch syndrome and the methodology utilized to derive these guidelines, as well as an explanation of, and supporting literature for, these guidelines are provided.
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Affiliation(s)
| | - John I Allen
- Yale University School of Medicine, New Haven, Connecticut, USA
| | | | | | | | | | | | - Jason A Dominitz
- 1] VA Puget Sound Health Care System, Seattle, Washington, USA [2] University of Washington, Seattle, Washington, USA
| | | | | | | | | | - Douglas J Robertson
- 1] White River Junction VA Medical Center, White River Junction, Vermont, USA [2] Geisel School of Medicine at Dartmouth, White River Junction, Vermont, USA
| | - Sapna Syngal
- 1] Brigham and Women's Hospital, Boston, Massachusetts, USA [2] Dana Farber Cancer Institute, Boston, Massachusetts, USA [3] Harvard Medical School, Boston, Massachusetts, USA
| | - Douglas K Rex
- Indiana University School of Medicine, Indianapolis, Indiana, USA
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Saurin JC, Pioche M. Why should we systematically specify the clinical relevance of images observed at capsule endoscopy? Endosc Int Open 2014; 2:E88-9. [PMID: 26135266 PMCID: PMC4423258 DOI: 10.1055/s-0034-1377264] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/28/2014] [Accepted: 04/30/2014] [Indexed: 01/23/2023] Open
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Vasen HFA, Ghorbanoghli Z, Bourdeaut F, Cabaret O, Caron O, Duval A, Entz-Werle N, Goldberg Y, Ilencikova D, Kratz CP, Lavoine N, Loeffen J, Menko FH, Muleris M, Sebille G, Colas C, Burkhardt B, Brugieres L, Wimmer K. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D). J Med Genet 2014; 51:283-93. [PMID: 24556086 DOI: 10.1136/jmedgenet-2013-102238] [Citation(s) in RCA: 152] [Impact Index Per Article: 13.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/26/2023]
Abstract
Lynch syndrome (LS) is an autosomal dominant disorder caused by a defect in one of the DNA mismatch repair genes: MLH1, MSH2, MSH6 and PMS2. In the last 15 years, an increasing number of patients have been described with biallelic mismatch repair gene mutations causing a syndrome referred to as 'constitutional mismatch repair-deficiency' (CMMR-D). The spectrum of cancers observed in this syndrome differs from that found in LS, as about half develop brain tumours, around half develop digestive tract cancers and a third develop haematological malignancies. Brain tumours and haematological malignancies are mainly diagnosed in the first decade of life, and colorectal cancer (CRC) and small bowel cancer in the second and third decades of life. Surveillance for CRC in patients with LS is very effective. Therefore, an important question is whether surveillance for the most common CMMR-D-associated cancers will also be effective. Recently, a new European consortium was established with the aim of improving care for patients with CMMR-D. At a workshop of this group held in Paris in June 2013, one of the issues addressed was the development of surveillance guidelines. In 1968, criteria were proposed by WHO that should be met prior to the implementation of screening programmes. These criteria were used to assess surveillance in CMMR-D. The evaluation showed that surveillance for CRC is the only part of the programme that largely complies with the WHO criteria. The values of all other suggested screening protocols are unknown. In particular, it is questionable whether surveillance for haematological malignancies improves the already favourable outcome for patients with these tumours. Based on the available knowledge and the discussions at the workshop, the European consortium proposed a surveillance protocol. Prospective collection of all results of the surveillance is needed to evaluate the effectiveness of the programme.
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Affiliation(s)
- H F A Vasen
- Department of Gastroenterology & Hepatology, Leiden University Medical Centre, Leiden, The Netherlands
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Guillén-Ponce C, Molina-Garrido MJ, Carrato A. Follow-up recommendations and risk-reduction initiatives for Lynch syndrome. Expert Rev Anticancer Ther 2014; 12:1359-67. [DOI: 10.1586/era.12.114] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/05/2023]
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Friedrich K, Gehrke S, Stremmel W, Sieg A. First clinical trial of a newly developed capsule endoscope with panoramic side view for small bowel: a pilot study. J Gastroenterol Hepatol 2013; 28:1496-501. [PMID: 23701674 DOI: 10.1111/jgh.12280] [Citation(s) in RCA: 34] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 05/09/2013] [Indexed: 12/14/2022]
Abstract
BACKGROUND AND STUDY AIMS Capsule endoscopy is the first-line diagnostic technique for the small bowel. However, the inability to visualize the duodenal papilla is an inherent limitation of this method. In the present study, we evaluated feasibility of a newly developed CapsoCam SV1 capsule. PATIENTS AND METHODS This is a prospective dual center study of a newly developed video capsule CapsoCam SV1 from Capsovision, CA, providing panoramic 360° imaging. A high frequency of 20 frames occurs per second for the first 2 h and thereafter 12 frames/s, with a battery life of 15 h. We evaluated feasibility and completeness of small bowel examination together with secondary endpoints of duodenal papilla detection in 33 patients. Patients swallowed the capsules following colonoscopy or were prepared with 2 L of polyethylene glycol solution prior to the examination. All patients swallowed 20 mg of metoclopramide and 160 mg of simethicone 30 min before ingestion of the capsule. RESULTS Thirty-one of the 33 patients' data could be evaluated. Small bowel examination was complete in all procedures. Mean time to pass the small bowel was 258 ± 136 min. Average small bowel cleanliness was 3.3 ± 0.5. In 71% of the patients, we identified the duodenal papilla. No adverse reaction in relation to the capsule examination was observed. CONCLUSIONS CapsoCam SV1 is a safe and efficient tool in small bowel examination. The duodenal papilla as the only landmark in small bowel is detected in more than 70% of the patients.
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Affiliation(s)
- Kilian Friedrich
- Department of Internal Medicine IV, University Hospital of Heidelberg
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Soyer P, Aout M, Hoeffel C, Vicaut E, Placé V, Boudiaf M. Helical CT-enteroclysis in the detection of small-bowel tumours: a meta-analysis. Eur Radiol 2012; 23:388-99. [PMID: 22865269 DOI: 10.1007/s00330-012-2595-y] [Citation(s) in RCA: 35] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2012] [Revised: 06/18/2012] [Accepted: 06/21/2012] [Indexed: 12/13/2022]
Abstract
OBJECTIVE To perform a meta-analysis to determine sensitivity and specificity estimates of helical CT-enteroclysis in the detection of small-bowel tumours. METHODS A search for relevant articles published from January 1992 to November 2010 was performed. Study design, patient characteristics and 2 × 2 contingency tables were recorded for eligible studies. Heterogeneity was assessed with the I (2) statistic. A bivariate generalised linear random-effects model was used to summarise sensitivity and specificity estimates for small-bowel tumour detection on a per-patient basis. Sensitivity and specificity estimates were compared in different subgroups. RESULTS Twelve studies (696 patients) were eligible. The mean small-bowel tumour prevalence was 22.6 % (range 7.7-45.8 %). Inter-study heterogeneity was substantial for sensitivity (I (2) = 66.9 %; 95 % CI 28.7-88.5 %) and low for specificity (I (2) = 10.6 %; 95 % CI 0.0-55.0 %). On a per-patient basis, pooled sensitivity was 92.8 % (95 % CI 71.3-98.5 %) and pooled specificity 99.2 % (95 % CI 94.2-99.9 %) for the diagnosis of small-bowel tumour. Subgroup analysis revealed that small-bowel preparation, more than one imaging pass and large volumes (≥2 L) of enteral contrast agent did not improve tumour detection. CONCLUSION Our meta-analysis confirms that helical CT-enteroclysis has high degrees of sensitivity and specificity for small-bowel tumour detection. However, our findings reinforce the need for more standardised individual studies.
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Affiliation(s)
- Philippe Soyer
- Department of Abdominal Imaging, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, 2 rue Ambroise Paré, 75475, Paris cedex 10, France.
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Koornstra JJ. Small bowel endoscopy in familial adenomatous polyposis and Lynch syndrome. Best Pract Res Clin Gastroenterol 2012; 26:359-68. [PMID: 22704577 DOI: 10.1016/j.bpg.2012.01.022] [Citation(s) in RCA: 38] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/04/2011] [Accepted: 01/19/2012] [Indexed: 01/31/2023]
Abstract
Patients with familial adenomatous polyposis (FAP) and patients with Lynch syndrome have an increased risk of developing small intestinal neoplasia. In both conditions, the lifetime risk to develop small bowel cancer is estimated to be around 5%. In FAP, this risk is associated with the degree of duodenal polyposis, classically assessed by the Spigelman classification. For this reason, gastroduodenal surveillance with forward-viewing and side-viewing endoscopy is generally recommended. Studies using video capsule endoscopy and balloon-assisted enteroscopy in FAP patients have revealed that jejunal and ileal polyps occur frequently in FAP, especially in those with extensive duodenal polyposis. Nevertheless, the clinical relevance of small bowel polyps beyond the duodenum appears to be limited. Compared to FAP, little is known about the prevalence and natural history of small bowel neoplasia in Lynch syndrome. Surveillance of the small bowel is not recommended in Lynch syndrome, although recent data using capsule endoscopy provided promising results.
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Affiliation(s)
- Jan Jacob Koornstra
- Department of Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
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Mittal M, Parikh DA, Jess H, Mann SK. First Case of Small Bowel Sarcomatoid Carcinoma Found by Video Capsule Endoscopy. Gastroenterology Res 2012; 5:71-73. [PMID: 27785184 PMCID: PMC5051170 DOI: 10.4021/gr414w] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 03/22/2012] [Indexed: 12/22/2022] Open
Abstract
Sarcomatoid carcinoma of the small bowel is extremely rare. We report the first case of sarcomatoid carcinoma identified by video capsule endoscopy in a patient referred for obscure gastrointestinal bleeding. Computed tomography and small bowel follow through failed to identify the tumor. The tumor was visualized initially on video capsule endoscopy examination and a 6 x 3 cm polypoid, fungating mass with irregular borders was retrieved on surgical resection. Microscopic examination showed sheets of pleomorphic spindled to epitheliod cells staining positive for cytokeritin and vimentin, indicative of sarcomatoid carcinoma. Forty-one months after surgical resection the patient continued to be free of metastatic disease.
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Affiliation(s)
- Mohit Mittal
- Internal Medicine, UC Davis Medical Center, Sacramento, CA, United States
| | - Dhavan A Parikh
- Gastroenterology, UC Davis Medical Center, Sacramento, CA, United States
| | - Heidi Jess
- Pathology, UC Davis Medical Center, Sacramento, CA, United States
| | - Surinder K Mann
- Gastroenterology, UC Davis Medical Center, Sacramento, CA, United States
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Cheung DY, Choi MG. Current advance in small bowel tumors. Clin Endosc 2011; 44:13-21. [PMID: 22741107 PMCID: PMC3363052 DOI: 10.5946/ce.2011.44.1.13] [Citation(s) in RCA: 27] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/01/2011] [Revised: 09/15/2011] [Accepted: 09/16/2011] [Indexed: 12/15/2022] Open
Abstract
Small intestinal tumors are difficult challenge to gastroenterologists. The difficulty in making a diagnosis of small intestinal tumor lies in the relative inaccessibility and absence of typical presentation. New endoscopic and radiologic technologies provide clear and fine anatomical visualization of the small bowel and are approved to improve the diagnostic sensitivity and accuracy. Patients at risk of small intestinal tumors might gain a benefit from proper surveillance with this new technology. Minimally invasive therapy is now available with advance of balloon assisted enteroscopy. This review describes the general aspect of the small intestinal tumors, focusing on the new modalities for diagnosis.
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Affiliation(s)
- Dae Young Cheung
- Department of Internal Medicine, Catholic University of Korea College of Medicine, Seoul, Korea
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