|
1
|
Grigorie TR, Potlog G, Alexandrescu ST. Lynch Syndrome-Impact of the Type of Deficient Mismatch Repair Gene Mutation on Diagnosis, Clinical Presentation, Surveillance and Therapeutic Approaches. MEDICINA (KAUNAS, LITHUANIA) 2025; 61:120. [PMID: 39859102 PMCID: PMC11766940 DOI: 10.3390/medicina61010120] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/27/2024] [Revised: 01/10/2025] [Accepted: 01/12/2025] [Indexed: 01/27/2025]
Abstract
In today's world, with its continuing advancements in genetics, the identification of Lynch syndrome (LS) increasingly relies on sophisticated genetic testing techniques. Most guidelines recommend a tailored surveillance program, as well as personalized prophylactic and therapeutic approaches, according to the type of dMMR gene mutation. Carriers of path_MLH1 and path_MSH2 genes have a higher risk of developing colorectal cancer (CRC), despite intensive colonoscopic surveillance. Conversely, carriers of path_MSH6 and path_PMS2 genes have a lower risk of developing CRC, which may be due to their lower penetrance and later age of onset. Thus, carriers of path_MLH1 or path_MSH2 would theoretically derive greater benefits from total colectomy, compared to low-risk carriers (path_MSH6 and path_PMS2), in which colonoscopic surveillance might achieve an efficient prophylaxis. Furthermore, regarding the risk of endometrial/ovarian cancer development, there is a global agreement to offer both hysterectomy and bilateral salpingo-oophorectomy to path_MLH1, path_MSH2 and path_MSH6 carriers after the age of 40. In patients with CRC, preoperative knowledge of the diagnosis of LS is of tremendous importance, due to the high risk of metachronous CRC. However, this risk depends on the type of dMMR gene mutation. For carriers of the high-risk variants (MLH1, MSH2 and EPCAM) who have already developed colon cancer, it is strongly recommended a subtotal or total colectomy is performed, while partial colectomy followed by endoscopic surveillance is an appropriate management approach to treat colon cancer in carriers of the low-risk variants (MSH6 and PMS2). On the other hand, extended surgery for index rectal cancer (such as total proctocolectomy) is less effective than extended surgery for index colon cancer from the point of view of metachronous CRC risk reduction, and is associated with a decreased quality of life.
Collapse
Affiliation(s)
- Tudor Razvan Grigorie
- Department of Surgery, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania;
- Department of Hepato-Bilio-Pancreatic Surgery, Emergency University Hospital Bucharest, Splaiul Independentei 169, Sector 5, 050098 Bucharest, Romania
| | - Gheorghe Potlog
- Center for Digestive Diseases and Liver Transplantation, Fundeni Clinical Institute, 022328 Bucharest, Romania;
| | - Sorin Tiberiu Alexandrescu
- Department of Surgery, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania;
- Department of Hepato-Bilio-Pancreatic Surgery, Emergency University Hospital Bucharest, Splaiul Independentei 169, Sector 5, 050098 Bucharest, Romania
| |
Collapse
|
|
2
|
Vivekanandamoorthy N, Choi JDW, Toh JWT. Life‐threatening presentation of complicated intra‐abdominal desmoid tumour in a young man without a family history of familial adenomatous polyposis. ANZ J Surg 2022; 92:2387-2389. [DOI: 10.1111/ans.17497] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/01/2021] [Accepted: 01/10/2022] [Indexed: 11/29/2022]
Affiliation(s)
| | | | - James Wei Tatt Toh
- Department of Surgery Westmead Hospital Sydney New South Wales Australia
- Westmead Clinical School University of Sydney Sydney New South Wales Australia
| |
Collapse
|
|
3
|
Pasquer A, Benech N, Pioche M, Breton A, Rivory J, Vinet O, Poncet G, Saurin JC. Prophylactic colectomy and rectal preservation in FAP: systematic endoscopic follow-up and adenoma destruction changes natural history of polyposis. Endosc Int Open 2021; 9:E1014-E1022. [PMID: 34222624 PMCID: PMC8211478 DOI: 10.1055/a-1467-6257] [Citation(s) in RCA: 24] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/23/2021] [Accepted: 03/04/2021] [Indexed: 12/30/2022] Open
Abstract
Background and study aims Prophylactic surgery of familial adenomatous polyposis (FAP) includes total colectomy with ileorectal anastomosis (IRA) to proctocolectomy with ileoanal anastomosis (IAA). Surgical guidelines rely on studies without systematic endoscopic follow-up and treatment. Our aim was to report our experience based on a different approach: therapeutic follow-up, comparing in this setting IRA and IAA in terms of oncological safety and quality of life. Patients and methods Between January 1965 and November 2015, all patients who underwent prophylactic surgery for FAP with therapeutic endoscopic follow-up in Lyon University hospital: systematic endoscopic treatment of adenomas, were retrospectively and prospectively (since 2011) included. Results A total of 296 patients were analyzed: 92 had proctocolectomy with IAA (31.1 %), 197 total colectomy with IRA (66.5 %), and seven abdominoperineal resections (2.4 %). Median follow-up was 17.1 years (range, 0-38.1). Incidence of secondary cancer (IR vs. IAA) was 6.1 % vs. 1.1 % ( P = 0.06; 95 %CI 0.001-0.36). The 15-year cancer-free and overall survival (IR vs. IAA) were 99.5 % vs 100 % ( P = 0.09) and 98.9 % vs. 98.8 % ( P = 0.82), respectively. Postoperative morbidity occurred in 44 patients: 29 (14.7 %) in the IRA and 15 (16.3 %) in the IAA group ( P = 0.72). The mean number of stools per day in the respective groups were 4.4 (2.5) vs. 5.5 (2.6) ( P = 0.001). Fecal incontinence occurred in 14 patients (7.1 %) in the IRA vs. 16 (17.4 %) in the IAA group ( P = 0.03). Conclusions A combination of therapeutic endoscopic treatment and extended rectal preservation appears to be a safe alternative to ileoanal J-pouch anastomosis.
Collapse
Affiliation(s)
- Arnaud Pasquer
- Digestive and Oncological Surgery Department, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France,University Claude Bernard Lyon I, Faculté de Médecine Lyon Est, Lyon, France
| | - Nicolas Benech
- Hepato-gastroenterology Department Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| | - Mathieu Pioche
- University Claude Bernard Lyon I, Faculté de Médecine Lyon Est, Lyon, France,Hepato-gastroenterology Department Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| | - Antoine Breton
- Digestive and Oncological Surgery Department, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| | - Jerome Rivory
- Hepato-gastroenterology Department Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| | - Olivier Vinet
- Hepato-gastroenterology Department Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| | - Gilles Poncet
- Digestive and Oncological Surgery Department, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France,University Claude Bernard Lyon I, Faculté de Médecine Lyon Est, Lyon, France
| | - Jean Christophe Saurin
- University Claude Bernard Lyon I, Faculté de Médecine Lyon Est, Lyon, France,Hepato-gastroenterology Department Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| |
Collapse
|
|
4
|
Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the Clinical Practice of Hereditary Colorectal Cancer. Int J Clin Oncol 2021; 26:1353-1419. [PMID: 34185173 PMCID: PMC8286959 DOI: 10.1007/s10147-021-01881-4] [Citation(s) in RCA: 93] [Impact Index Per Article: 23.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/23/2020] [Accepted: 01/10/2021] [Indexed: 12/14/2022]
Abstract
Hereditary colorectal cancer (HCRC) accounts for < 5% of all colorectal cancer cases. Some of the unique characteristics commonly encountered in HCRC cases include early age of onset, synchronous/metachronous cancer occurrence, and multiple cancers in other organs. These characteristics necessitate different management approaches, including diagnosis, treatment or surveillance, from sporadic colorectal cancer management. There are two representative HCRC, named familial adenomatous polyposis and Lynch syndrome. Other than these two HCRC syndromes, related disorders have also been reported. Several guidelines for hereditary disorders have already been published worldwide. In Japan, the first guideline for HCRC was prepared by the Japanese Society for Cancer of the Colon and Rectum (JSCCR), published in 2012 and revised in 2016. This revised version of the guideline was immediately translated into English and published in 2017. Since then, several new findings and novel disease concepts related to HCRC have been discovered. The currently diagnosed HCRC rate in daily clinical practice is relatively low; however, this is predicted to increase in the era of cancer genomic medicine, with the advancement of cancer multi-gene panel testing or whole genome testing, among others. Under these circumstances, the JSCCR guidelines 2020 for HCRC were prepared by consensus among members of the JSCCR HCRC Guideline Committee, based on a careful review of the evidence retrieved from literature searches, and considering the medical health insurance system and actual clinical practice settings in Japan. Herein, we present the English version of the JSCCR guidelines 2020 for HCRC.
Collapse
|
|
5
|
Ampullary carcinoma of the duodenum: current clinical issues and genomic overview. Surg Today 2021; 52:189-197. [PMID: 33797636 DOI: 10.1007/s00595-021-02270-0] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/09/2020] [Accepted: 01/17/2021] [Indexed: 02/07/2023]
Abstract
Ampullary carcinomas of the duodenum are uncommon. Moreover, the diversity in the clinical outcomes of these patients makes it difficult to interpret previous studies and clinical trial results. The difficulty in proper staging of ampullary carcinomas, especially with regard to the T category of the tumor in the TNM system, reflects the anatomic complexity and non-uniform histopathologic subtypes. One major reason for this difficulty in interpretation is that the tumors may arise from any of the three epithelia (duodenal, biliary, or pancreatic) that converge at this location. Generally, ampullary carcinomas are classified into intestinal and pancreaticobiliary types based on morphology and immunohistochemical features. While many studies have described their specific characteristics and clinical impact, the prognostic value of these subtypes is controversial. In recent years, whole-exome sequencing analyses have advanced our understanding of the genomic overview of ampullary carcinoma. Gene mutations serve as prognostic and predictive biomarkers for this disease. Therefore, basic knowledge of the genomic profile of ampullary carcinomas is required for surgeons to understand how best to apply precision medicine as well as surgery and adjuvant therapies. This review provides an overview of the current basic and clinical issues of ampullary carcinoma.
Collapse
|
|
6
|
Pop OL, Vodnar DC, Diaconeasa Z, Istrati M, Bințințan A, Bințințan VV, Suharoschi R, Gabbianelli R. An Overview of Gut Microbiota and Colon Diseases with a Focus on Adenomatous Colon Polyps. Int J Mol Sci 2020; 21:7359. [PMID: 33028024 PMCID: PMC7582333 DOI: 10.3390/ijms21197359] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/06/2020] [Revised: 09/30/2020] [Accepted: 10/02/2020] [Indexed: 12/24/2022] Open
Abstract
It is known and accepted that the gut microbiota composition of an organism has an impact on its health. Many studies deal with this topic, the majority discussing gastrointestinal health. Adenomatous colon polyps have a high prevalence as colon cancer precursors, but in many cases, they are hard to diagnose in their early stages. Gut microbiota composition correlated with the presence of adenomatous colon polyps may be a noninvasive and efficient tool for diagnosis with a high impact on human wellbeing and favorable health care costs. This review is meant to analyze the gut microbiota correlated with the presence of adenomatous colon polyps as the first step for early diagnosis, prophylaxis, and treatment.
Collapse
Affiliation(s)
- Oana Lelia Pop
- Department of Food Science, University of Agricultural Sciences and Veterinary Medicine, 400372 Cluj-Napoca, Romania; (O.L.P.); (D.C.V.); (Z.D.)
| | - Dan Cristian Vodnar
- Department of Food Science, University of Agricultural Sciences and Veterinary Medicine, 400372 Cluj-Napoca, Romania; (O.L.P.); (D.C.V.); (Z.D.)
| | - Zorita Diaconeasa
- Department of Food Science, University of Agricultural Sciences and Veterinary Medicine, 400372 Cluj-Napoca, Romania; (O.L.P.); (D.C.V.); (Z.D.)
| | - Magdalena Istrati
- Regional Institute of Gastroenterology and Hepatology “Prof. Dr. Octavian Fodor”, 400158 Cluj-Napoca, Romania;
| | - Adriana Bințințan
- 1st Medical Clinic, Department of Gastroenterology, Emergency County Hospital, 400006 Cluj Napoca, Romania;
| | - Vasile Virgil Bințințan
- 1st Surgical Clinic, Department of Surgery, University of Medicine and Pharmacy Cluj Napoca, 400006 Cluj Napoca, Romania;
| | - Ramona Suharoschi
- Department of Food Science, University of Agricultural Sciences and Veterinary Medicine, 400372 Cluj-Napoca, Romania; (O.L.P.); (D.C.V.); (Z.D.)
| | - Rosita Gabbianelli
- Unit of Molecular Biology, School of Pharmacy, University of Camerino, Via Gentile III da Varano, 62032 Camerino, Italy
| |
Collapse
|
|
7
|
Xiao J, Mao J, Li B. Clinical Characteristics and Treatment of Intra-abdominal Aggressive Fibromatosis: A Retrospective Study of 16 Patients. Front Med (Lausanne) 2020; 7:2. [PMID: 32083084 PMCID: PMC7006042 DOI: 10.3389/fmed.2020.00002] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/22/2019] [Accepted: 01/06/2020] [Indexed: 11/23/2022] Open
Abstract
Background: This study aimed to investigate the clinical characteristics and treatment methods for intra-abdominal aggressive fibromatosis. Methods: We reviewed the clinical data from 16 patients who were diagnosed with intra-abdominal aggressive fibromatosis and were admitted to Peking Union Medical College Hospital between March 1983 and September 2018. Results: Among the 16 patients, 11 patients presented with a hard smooth abdominal mass with clear borders and a diameter of 4.3–25.0 cm. Six patients had a history of abdominal surgery and 3 patients had a history of familial adenomatous polyposis. Computed tomography imaging revealed a slightly dense mass with mild-to-moderate enhancement. Of all the 16 patients, 11 patients underwent surgical treatment and no recurrence occurred in 10 case after complete resection while recurrence occurred in 1 case after partial resection. Two patients underwent surveillance and 3 patients received cytotoxic drugs treatment, and no disease progression was observed via imaging during their follow-up. Conclusions: Intra-abdominal aggressive fibromatosis is histologically benign tumor with high local recurrence rate. Surgery is an effective treatment and complete resection is essential in reducing the local recurrence rate.
Collapse
Affiliation(s)
- Jianchun Xiao
- Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China
| | - Jinzhu Mao
- Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China
| | - Binglu Li
- Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China
| |
Collapse
|
|
8
|
Pea A, Riva G, Bernasconi R, Sereni E, Lawlor RT, Scarpa A, Luchini C. Ampulla of Vater carcinoma: Molecular landscape and clinical implications. World J Gastrointest Oncol 2018; 10:370-380. [PMID: 30487949 PMCID: PMC6247104 DOI: 10.4251/wjgo.v10.i11.370] [Citation(s) in RCA: 34] [Impact Index Per Article: 4.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/01/2018] [Revised: 08/08/2018] [Accepted: 10/08/2018] [Indexed: 02/05/2023] Open
Abstract
Ampulla of Vater is a peculiar anatomical structure, characterized by the crossroad of three distinct epithelia: Intestinal, ductal pancreatic and biliary. Adenocarcinomas arising in this area represent an opportunity to understand the comparative biology of all periampullary malignancies. These neoplasms can exhibit intestinal, pancreaticobiliary or mixed features, whereas the subclassification based on morphology and immunohistochemical features failed in demonstrating a robust prognostic reliability. In the last few years, the molecular landscape of this tumor entity has been uncovered, identifying alterations that may serve as prognostic and predictive biomarkers. In this review, the histological and genetic characteristics of ampullary carcinomas are discussed, taking into account the main clinical and therapeutic implications related to this tumor type as well.
Collapse
Affiliation(s)
- Antonio Pea
- Department of Surgery, University and Hospital Trust of Verona, Verona 37134, Italy
| | - Giulio Riva
- Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona, Verona 37134, Italy
| | - Riccardo Bernasconi
- Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona, Verona 37134, Italy
| | - Elisabetta Sereni
- Department of Surgery, University and Hospital Trust of Verona, Verona 37134, Italy
| | - Rita Teresa Lawlor
- ARC-Net Research Center, University and Hospital Trust of Verona, Verona 37134, Italy
| | - Aldo Scarpa
- Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona, Verona 37134, Italy
| | - Claudio Luchini
- Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona, Verona 37134, Italy
| |
Collapse
|
|
9
|
Ishida H, Yamaguchi T, Tanakaya K, Akagi K, Inoue Y, Kumamoto K, Shimodaira H, Sekine S, Tanaka T, Chino A, Tomita N, Nakajima T, Hasegawa H, Hinoi T, Hirasawa A, Miyakura Y, Murakami Y, Muro K, Ajioka Y, Hashiguchi Y, Ito Y, Saito Y, Hamaguchi T, Ishiguro M, Ishihara S, Kanemitsu Y, Kawano H, Kinugasa Y, Kokudo N, Murofushi K, Nakajima T, Oka S, Sakai Y, Tsuji A, Uehara K, Ueno H, Yamazaki K, Yoshida M, Yoshino T, Boku N, Fujimori T, Itabashi M, Koinuma N, Morita T, Nishimura G, Sakata Y, Shimada Y, Takahashi K, Tanaka S, Tsuruta O, Yamaguchi T, Sugihara K, Watanabe T. Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version). J Anus Rectum Colon 2018; 2:S1-S51. [PMID: 31773066 PMCID: PMC6849642 DOI: 10.23922/jarc.2017-028] [Citation(s) in RCA: 30] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/26/2017] [Accepted: 09/15/2017] [Indexed: 02/07/2023] Open
Abstract
Hereditary colorectal cancer accounts for less than 5% of all colorectal cancer cases. Some of the unique characteristics that are commonly encountered in cases of hereditary colorectal cancer include early age at onset, synchronous/metachronous occurrence of the cancer, and association with multiple cancers in other organs, necessitating different management from sporadic colorectal cancer. While the diagnosis of familial adenomatous polyposis might be easy because usually 100 or more adenomas that develop in the colonic mucosa are in this condition, Lynch syndrome, which is the most commonly associated disease with hereditary colorectal cancer, is often missed in daily medical practice because of its relatively poorly defined clinical characteristics. In addition, the disease concept and diagnostic criteria for Lynch syndrome, which was once called hereditary non-polyposis colorectal cancer, have changed over time with continual research, thereby possibly creating confusion in clinical practice. Under these circumstances, the JSCCR Guideline Committee has developed the "JSCCR Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (HCRC)," to allow delivery of appropriate medical care in daily practice to patients with familial adenomatous polyposis, Lynch syndrome, or other related diseases. The JSCCR Guidelines 2016 for HCRC were prepared by consensus reached among members of the JSCCR Guideline Committee, based on a careful review of the evidence retrieved from literature searches, and considering the medical health insurance system and actual clinical practice settings in Japan. Herein, we present the English version of the JSCCR Guidelines 2016 for HCRC.
Collapse
Affiliation(s)
- Hideyuki Ishida
- Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitma Medical University, Kawagoe, Japan
| | - Tatsuro Yamaguchi
- Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan
| | - Kohji Tanakaya
- Department of Surgery, Iwakuni Clinical Center, Iwakuni, Japan
| | - Kiwamu Akagi
- Department of Cancer Prevention and Molecular Genetics, Saitama Prefectural Cancer Center, Saitama, Japan
| | - Yasuhiro Inoue
- Department of Gastrointestinal and Pediatric Surgery, Division of Reparative Medicine, Institute of Life Sciences, Mie University Graduate School of Medicine, Tsu, Japan
| | - Kensuke Kumamoto
- Department of Coloproctology, Aizu Medical Center, Fukushima Medical University, Aizuwakamatsu, Japan
| | - Hideki Shimodaira
- Department of Clinical Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan
| | - Shigeki Sekine
- Division of Pathology and Clinical Laboratories, National Cancer Center, Hospital, Tokyo, Japan
| | - Toshiaki Tanaka
- Department of Surgical Oncology, The Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
| | - Akiko Chino
- Division of Gastroenterology, The Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan
| | - Naohiro Tomita
- Department of Surgery, Hyogo College of Medicine, Nishinomiya, Japan
| | - Takeshi Nakajima
- Endoscopy Division/Department of Genetic Medicine and Service, National Cancer Center Hospital, Tokyo, Japan
| | | | - Takao Hinoi
- Department of Surgery, Institute for Clinical Research, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Kure, Japan
| | - Akira Hirasawa
- Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan
| | - Yasuyuki Miyakura
- Department of Surgery Saitama Medical Center, Jichi Medical University, Saitama, Japan
| | - Yoshie Murakami
- Department of Oncology Nursing, Faculty of Nursing, Toho University, Tokyo, Japan
| | - Kei Muro
- Department of Clinical Oncology, Aichi Cancer Center Hospital, Nagoya, Japan
| | - Yoichi Ajioka
- Division of Molecular and Diagnostic Pathology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan
| | | | - Yoshinori Ito
- Department of Radiation Oncology, National Cancer Center Hospital, Tokyo, Japan
| | - Yutaka Saito
- Endoscopy Division, National Cancer Center Hospital, Tokyo, Japan
| | - Tetsuya Hamaguchi
- Division of Gastrointestinal Medical Oncology, National Cancer Center Hospital, Tokyo, Japan
| | - Megumi Ishiguro
- Department of Translational Oncology, Tokyo Medical and Dental University Graduate School, Tokyo, Japan
| | - Soichiro Ishihara
- Department of Surgical Oncology, The Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
| | - Yukihide Kanemitsu
- Colorectal Surgery Division, National Cancer Center Hospital, Tokyo, Japan
| | - Hiroshi Kawano
- Department of Gastroenterology, St. Mary's Hospital, Fukuoka, Japan
| | - Yusuke Kinugasa
- Department of Colon and Rectal Surgery, Shizuoka Cancer Center, Shizuoka, Japan
| | - Norihiro Kokudo
- Hepato-Pancreato-Biliary Surgery Division, Artificial Organ and Transplantation Division, Department of Surgery, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
| | - Keiko Murofushi
- Radiation Oncology Department, The Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan
| | - Takako Nakajima
- Department of Clinical Oncology, St. Marianna University School of Medicine, Kawasaki, Japan
| | - Shiro Oka
- Gastroenterology and Metabolism, Hiroshima University Hospital, Hiroshima, Japan
| | | | - Akihiko Tsuji
- Department of Clinical Oncology, Faculty of Medicine, Kagawa University, Takamatsu, Japan
| | - Keisuke Uehara
- Division of Surgical Oncology, Department of Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan
| | - Hideki Ueno
- Department of Surgery, National Defense Medical College, Saitama, Japan
| | - Kentaro Yamazaki
- Division of Gastrointestinal Oncology, Shizuoka Cancer Center, Shizuoka, Japan
| | - Masahiro Yoshida
- Department of Hemodialysis and Surgery, Chemotherapy Research Institute, International University of Health and Welfare, Ichikawa, Japan
| | - Takayuki Yoshino
- Department of Gastroenterology and Gastrointestinal Oncology, National Cancer Center Hospital East, Chiba, Japan
| | - Narikazu Boku
- Division of Gastrointestinal Medical Oncology, National Cancer Center Hospital, Tokyo, Japan
| | | | - Michio Itabashi
- Department of Surgery, Institute of Gastroenterology, Tokyo Women's Medical University, Tokyo, Japan
| | - Nobuo Koinuma
- Department of Health Administration and Policy, Tohoku Medical and Pharmaceutical University, Sendai, Japan
| | - Takayuki Morita
- Department of Surgery, Cancer Center, Aomori Prefectural Central Hospital, Aomori, Japan
| | - Genichi Nishimura
- Department of Surgery, Japanese Red Cross Kanazawa Hospital, Ishikawa, Japan
| | - Yuh Sakata
- CEO, Misawa City Hospital, Misawa, Japan
| | - Yasuhiro Shimada
- Division of Clinical Oncology, Kochi Health Sciences Center, Kochi, Japan
| | - Keiichi Takahashi
- Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan
| | - Shinji Tanaka
- Department of Endoscopy, Hiroshima University Hospital, Hiroshima, Japan
| | - Osamu Tsuruta
- Division of GI Endoscopy, Kurume University School of Medicine, Fukuoka, Japan
| | - Toshiharu Yamaguchi
- Department of Gastroenterological Surgery, The Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan
| | | | - Toshiaki Watanabe
- Department of Surgical Oncology, The Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
| |
Collapse
|
|
10
|
Takeshita E, Enomoto T, Saida Y. Alternative treatments for prophylaxis of colorectal cancer in familial adenomatous polyposis. JOURNAL OF THE ANUS RECTUM AND COLON 2018; 1:74-77. [PMID: 31583304 PMCID: PMC6768673 DOI: 10.23922/jarc.2017-007] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 02/09/2017] [Accepted: 04/04/2017] [Indexed: 11/30/2022]
Abstract
Familial adenomatous polyposis (FAP) is a rare, hereditary disease characterized by the presence of 100 or more adenomas distributed throughout the colon and rectum. If untreated, colorectal cancer develops in almost 100% of FAP patients. As prophylactic treatment, proctocolectomy with ileal pouch-anal anastomosis remains the surgical treatment of choice. High rates of postoperative complications, however, have been reported with this procedure, including bowel dysfunction, incontinence, and reduced female fecundity. Some novel strategies for preventing hereditary colon cancers have been reported. This review summarizes alternative treatments, including the laparoscopic approach, chemoprevention, endoscopic management, and subtotal colectomy combined with endoscopic treatment, for prophylaxis of colorectal cancer in FAP patients.
Collapse
Affiliation(s)
- Emiko Takeshita
- Department of Surgery, Toho University Ohashi Medical Center, Tokyo, Japan
| | - Toshiyuki Enomoto
- Department of Surgery, Toho University Ohashi Medical Center, Tokyo, Japan
| | - Yoshihisa Saida
- Department of Surgery, Toho University Ohashi Medical Center, Tokyo, Japan
| |
Collapse
|
|
11
|
Zorcolo L, Fantola G, Balestrino L, Restivo A, Vivanet C, Spina F, Cabras F, Ambu R, Casula G. MUTYH-associated colon disease: Adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. TUMORI JOURNAL 2018; 97:676-80. [DOI: 10.1177/030089161109700523] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/04/2023]
Abstract
Aims and background The MutY human homologue gene (MUTYH) is responsible for about a quarter of attenuated familial adenomatous polyposis. Occasionally, it has been associated with hyperplastic polyps and serrated adenoma. We report a family where the same MUTYH mutation determined four different phenotypes, including a case of hyperplastic polyposis syndrome. Patients and methods A family with a history of right-sided colon cancer and multiple colonic polyposis was investigated. Genetic tests were correlated with clinical findings to define phenotypic manifestations of MUTYH mutations. The pertinent English-language literature was reviewed to evaluate the risk of malignancy of MUTYH and the role of prophylactic surgery. Results Three male siblings carried a biallelic MUTYH mutation (G382D-exon13), while the fourth was heterozygote. One developed an isolated cecal cancer at the age of 48. Another, aged 38, was diagnosed with numerous minute colonic and rectal polyps and underwent a proctocolectomy, with final pathology showing a picture of hyperplastic and lymphoid polyposis. The third biallelic brother, 46 years old, developed four hyperplastic lesions, while the heterozygote brother had a large flat serrated adenoma of the right colon removed at the age of 50. Conclusion Many aspects of MUTYH mutation still need to be clarified and one of them regards the different phenotypic expressions. Although the majority of reported cases manifested attenuated adenomatous polyposis, hyperplastic polyps and serrated adenomas appear to be more common than expected. Presenting hyperplastic polyposis syndrome is very unusual and may represent a clinical dilemma for correct management. Current evidence suggests to handle MUTYH-associated polyposis as typical FAP.
Collapse
Affiliation(s)
- Luigi Zorcolo
- Department of General Surgery, Colorectal Unit, University of Cagliari, Cagliari
| | - Giovanni Fantola
- Department of General Surgery, Colorectal Unit, University of Cagliari, Cagliari
| | | | - Angelo Restivo
- Department of General Surgery, Colorectal Unit, University of Cagliari, Cagliari
| | | | | | - Francesco Cabras
- Department of General Surgery, Colorectal Unit, University of Cagliari, Cagliari
| | - Rossano Ambu
- Department of Pathology, University of Cagliari, Cagliari, Italy
| | - Giuseppe Casula
- Department of General Surgery, Colorectal Unit, University of Cagliari, Cagliari
| |
Collapse
|
|
12
|
The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Polyposis Syndromes. Dis Colon Rectum 2017; 60:881-894. [PMID: 28796726 PMCID: PMC5701653 DOI: 10.1097/dcr.0000000000000912] [Citation(s) in RCA: 55] [Impact Index Per Article: 6.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
|
|
13
|
HEREDITARY COLORECTAL CANCER REGISTRY: A CLEVELAND CLINIC FOUNDATION EXPERIENCE. REVISTA MÉDICA CLÍNICA LAS CONDES 2017. [DOI: 10.1016/j.rmclc.2017.06.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022] Open
|
|
14
|
J C, M O, L L, D C, X X, H H, L A, G D, B J, K H, B L, J M, C B, M K. REGISTRO DE CÁNCER COLORRECTAL HEREDITARIO: UNA EXPERIENCIA DE “CLEVELAND CLINIC FOUNDATION”. REVISTA MÉDICA CLÍNICA LAS CONDES 2017. [DOI: 10.1016/j.rmclc.2017.07.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/19/2022] Open
|
|
15
|
|
|
16
|
Abstract
Colorectal pediatric surgery is a diverse field that encompasses many different procedures. The pullthrough for Hirschsprung disease, the posterior sagittal anorectoplasty for anorectal malformations including complex cloaca reconstructions and the ileal pouch anal anastomosis for ulcerative colitis and familial adenomatous polyposis present some of the most technically challenging procedures pediatric surgeons undertake. Many children prevail successfully following these surgical interventions, however, a small number of patients suffer from complications following these procedures. Anticipated postoperative problems are discussed along with medical and surgical strategies for managing these complications.
Collapse
Affiliation(s)
- Jason S Frischer
- Colorectal Center for Children, Division of Pediatric General & Thoracic Surgery, Cincinnati Children׳s Hospital Medical Center, College of Medicine, University of Cincinnati, 3333 Burnet Ave, MLC-2023, Cincinnati, Ohio 45229.
| | - Beth Rymeski
- Colorectal Center for Children, Division of Pediatric General & Thoracic Surgery, Cincinnati Children׳s Hospital Medical Center, College of Medicine, University of Cincinnati, 3333 Burnet Ave, MLC-2023, Cincinnati, Ohio 45229
| |
Collapse
|
|
17
|
Ueno H, Kobayashi H, Konishi T, Ishida F, Yamaguchi T, Hinoi T, Kanemitsu Y, Inoue Y, Tomita N, Matsubara N, Komori K, Ozawa H, Nagasaka T, Hasegawa H, Koyama M, Akagi Y, Yatsuoka T, Kumamoto K, Kurachi K, Tanakaya K, Yoshimatsu K, Watanabe T, Sugihara K, Ishida H. Prevalence of laparoscopic surgical treatment and its clinical outcomes in patients with familial adenomatous polyposis in Japan. Int J Clin Oncol 2016; 21:713-722. [PMID: 26820718 DOI: 10.1007/s10147-016-0953-5] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/04/2015] [Accepted: 01/07/2016] [Indexed: 01/01/2023]
Abstract
BACKGROUND Laparoscopic surgery is becoming the preferred technique for most colorectal interventions. This study aimed to clarify the time trend of surgical treatment for familial adenomatous polyposis (FAP) and its relevance to clinical outcomes in Japan over a 13-year period. METHODS This was a multicenter retrospective cohort study comprising 23 specialist institutions for colorectal disease and a cohort of 282 FAP patients who underwent total colectomy or proctocolectomy during 2000-2012. Patient clinical backgrounds and surgical outcomes were compared between the first and second halves of the study period. RESULTS The proportion of surgical types adopted over the entire study period was 46, 21, 30, and 3 % for ileoanal anastomosis (IAA), ileoanal canal anastomosis, ileorectal anastomosis, and permanent ileostomy, respectively. FAP patients undergoing laparoscopic surgery have increased since 2008 and reached 74 % in the past 3 years. In particular, the number of patients undergoing laparoscopic proctocolectomy with IAA increased approximately four-fold from the first to the second half of the study period. A laparoscopic approach was increasingly used in patients with coexisting colorectal malignancies. Despite this trend, surgical results of the laparoscopic approach between the two study periods showed similar morbidity, pouch operation and stoma closure completion rates. No postoperative mortality was observed in this series, and laparoscopic surgery was comparable to open surgery in terms of stoma closure rate, incidence of intra-abdominal/abdominal desmoid tumors, and postoperative survival rate in both study periods. CONCLUSION Laparoscopic approach is increasingly being adopted for prophylactic FAP surgery in Japan and may provide clinically acceptable practical outcomes.
Collapse
Affiliation(s)
- Hideki Ueno
- Department of Surgery, National Defense Medical College, Tokorozawa, Saitama, 359-8513, Japan.
| | - Hirotoshi Kobayashi
- Center for Minimally Invasive Surgery, Tokyo Medical and Dental University, Tokyo, Japan
| | - Tsuyoshi Konishi
- Gastroenterological Center, Department of Gastroenterological Surgery, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan
| | - Fumio Ishida
- Digestive Disease Center, Showa University Northern Yokohama Hospital, Yokohama, Japan
| | - Tatsuro Yamaguchi
- Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan
| | - Takao Hinoi
- Department of Gastroenterological and Transplant Surgery, Applied Life Sciences, Institute of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
| | - Yukihide Kanemitsu
- Division of Colorectal Surgery, National Cancer Center Hospital, Tokyo, Japan
| | - Yasuhiro Inoue
- Department of Gastrointestinal and Pediatric Surgery, Mie University Graduate School of Medicine, Tsu, Japan
| | - Naohiro Tomita
- Department of Surgery, Hyogo College of Medicine, Nishinomiya, Japan
| | | | - Koji Komori
- Department of Gastroenterological Surgery, Aichi Cancer Center Hospital, Nagoya, Japan
| | - Heita Ozawa
- Department of Surgery, Tochigi Cancer Center, Utsunomiya, Japan
| | - Takeshi Nagasaka
- Department of Gastroenterological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan
| | | | - Motoi Koyama
- Department of Gastroenterological Surgery, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
| | - Yoshito Akagi
- Department of Surgery, Kurume University School of Medicine, Kurume, Japan
| | - Toshimasa Yatsuoka
- Department of Gastroenterological Surgery, Saitama Cancer Center, Saitama, Japan
| | - Kensuke Kumamoto
- Department of Organ Regulatory Surgery, Fukushima Medical University School of Medicine, Fukushima, Japan
| | - Kiyotaka Kurachi
- Department of Surgery 2, Hamamatsu University School of Medicine, Hamamatsu, Japan
| | - Kohji Tanakaya
- Department of Surgery, Iwakuni Clinical Center, Iwakuni, Japan
| | - Kazuhiko Yoshimatsu
- Department of Surgery, Tokyo Women's Medical University Medical Center East, Tokyo, Japan
| | - Toshiaki Watanabe
- Department of Surgical Oncology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
| | | | - Hideyuki Ishida
- Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan
| |
Collapse
|
|
18
|
Risk-reduction surgery in pediatric surgical oncology: A perspective. J Pediatr Surg 2016; 51:675-87. [PMID: 26898681 DOI: 10.1016/j.jpedsurg.2016.01.004] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/08/2015] [Revised: 01/21/2016] [Accepted: 01/21/2016] [Indexed: 12/17/2022]
Abstract
OBJECTIVE A small percentage of pediatric solid cancers arise as a result of clearly identified inherited predisposition syndromes and nongenetic lesions. Evidence supports preemptive surgery for children with genetic [multiple endocrine neoplasia type 2 (MEN2), familial adenomatous polyposis syndrome (FAP), hereditary nonpolyposis colorectal cancer (HNPCC), and hereditary diffuse gastric cancer (HDGC) and nongenetic [thyroglossal duct cysts (TGDC), congenital pulmonary airway malformations (CPAM), alimentary tract duplication cysts (ATDC), and congenital choledochal cysts (CCC)] developmental anomalies. Our aim was to explore the utility of risk reduction surgery to treat and prevent cancer in children. METHODS A systematic review of the available peer-reviewed literature on PubMed was performed using a PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) search strategy, where possible. Search items included "risk reduction surgery", "hereditary cancer predisposition syndrome", "multiple endocrine neoplasia type 2", "familial adenomatous polyposis", "hereditary nonpolyposis colorectal cancer", "hereditary diffuse gastric cancer", "thyroglossal duct cysts", congenital pulmonary airway malformations", "alimentary tract duplication cysts", "malignant transformation", and "guidelines". RESULTS We identified 67 articles that met the inclusion criteria describing the indications for prophylactic surgery in surgical oncology. For the genetic predisposition syndromes, 7 studies were related to professional endorsed guidelines, 7 were related to surgery for MEN2, 11 were related to colectomy for FAP, 6 were related to colectomy for HNPCC, and 12 related to gastrectomy for HDGC. Articles for the nongenetic lesions included 5 for techniques related to TGDC resection, 9 for surgery for CPAMs, and 10 for resection of ATDCs. Guidelines and strategies varied significantly especially related to the extent and timing of surgical intervention; the exception was for the timing of thyroidectomy in children with MEN2. CONCLUSION Current evidence supporting prophylactic surgery in the management of pediatric cancer predisposition syndromes and nongenetic lesions is best delineated for thyroidectomy to prevent medullary thyroid cancer in children with MEN2 (Strength of Recommendation Grade B/C). Despite the lack of pediatric specific evidence-based recommendations regarding the appropriate extent and timing for risk-reduction surgery for FAP, HNPCC, HDGC and nongenetic anomalies, our review represents an opportunity towards understanding the postgenomic development of these lesions and provides current indications and techniques for preemptive cancer prevention surgery in children.
Collapse
|
|
19
|
Slowik V, Attard T, Dai H, Shah R, Septer S. Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals. BMC Gastroenterol 2015; 15:84. [PMID: 26179480 PMCID: PMC4504176 DOI: 10.1186/s12876-015-0306-2] [Citation(s) in RCA: 27] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/24/2014] [Accepted: 06/23/2015] [Indexed: 01/09/2023] Open
Abstract
Background Desmoid tumors are a group of benign, invasive, solid tumors that are relatively rare in the general population, but can occur in up to 21 % of patients with Familial Adenomatous Polyposis (FAP). They can be difficult to treat and have high rates of recurrence even after resection. Our goal with this study was to identify the genetic mutations that put certain patients with FAP at high risk for desmoid tumors and could be future targets for research. Methods We performed a search in Pubmed, Ovid Medline and Embase to identify subjects with desmoid tumors and FAP. As a reference group for APC mutations in the unselected FAP population, we used the UMD-APC database referenced in the Orphanet portal which includes APC mutation data on 2040 individuals with FAP. Results Mutations were able to be broken down into 7 regions based on previously published data. Mutations in the APC gene from codons 1310 to 2011 were the most common region encompassing 48 % of published desmoid cases and 40 % of the reference population. It had a slightly elevated odds ratio of 1.4 that was statistically significant along with codon region 543-713 that had an odds ratio of 2.0. Using a combination of p-value and CI, the remaining 5 regions did not meet statistical significance as either the p >0.05 or the CI included 1.0. The most common point mutation found was codon 1309 (13.1 %), but it was also the most commonly found mutation in our reference population (12.9 %) and had an odds ratio of 1.0. Conclusions There is an increased risk for desmoid tumors in individuals with APC mutations between codons 543-713 and 1310-2011 when compared to a reference population. These patients may benefit from further study to develop surveillance protocols that could improve outcomes. Electronic supplementary material The online version of this article (doi:10.1186/s12876-015-0306-2) contains supplementary material, which is available to authorized users.
Collapse
Affiliation(s)
- Voytek Slowik
- Section of Pediatric Gastroenterology, Children's Mercy Hospital, Kansas City, MO, USA.
| | - Thomas Attard
- Section of Pediatric Gastroenterology, Children's Mercy Hospital, Kansas City, MO, USA.
| | - Hongying Dai
- Department of Medical Research, Children's Mercy Hospital, Kansas City, MO, USA.
| | - Raj Shah
- University of Missouri Kansas City - School of Medicine, Kansas City, MO, USA.
| | - Seth Septer
- Section of Pediatric Gastroenterology, Children's Mercy Hospital, Kansas City, MO, USA.
| |
Collapse
|
|
20
|
Abstract
Aims and background Guidelines for surveillance in patients with familial adenomatous polyposis (FAP) recommend mutation carriers to undergo periodic colorectal examination starting in the early teens. Performing colonoscopy in children may lead to complications. Wireless capsule endoscopy (WCE) has been introduced recently to evaluate both the upper and lower gastrointestinal tract, and seems suitable as a first screening examination for adolescents. The aim of this study was to evaluate the pros and cons of WCE. Methods This was a retrospective review of a single institution database of adolescent patients with FAP identified through the Hereditary Colorectal Tumor Registry between 2007 and 2013. The main outcomes were identification of upper and lower gastrointestinal tract polyps, tolerance of the examination, and number and size of polyps. Results Of 46 adolescent patients with FAP, 14 (30.4%) patients carrying adenomatous polyposis coli gene ( APC) mutation, 6 male and 8 female, age (median, range) 12 (10-17) years, body mass index 19 (13-24), underwent WCE as first screening examination. The examination was completed in 13 patients (93.3%). Wireless capsule endoscopy identified the duodenal papilla in 4 patients and colonic and rectal polyps in all 13 patients. In 7 patients, fewer than 25 polyps were identified. No complications were recorded related to the use of the video capsule. Conclusions Wireless capsule endoscopy is feasible and well-tolerated as a first screening examination in adolescent patients. It cannot be used as alternative to the colonoscopy, but could improve compliance with colonoscopy, and increase early adherence to a surveillance program.
Collapse
|
|
21
|
Guillem JG, Bertelsen C. Total proctocolectomy for rectal cancer in Lynch syndrome: indications and considerations. COLORECTAL CANCER 2015. [DOI: 10.2217/crc.15.16] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]
Abstract
SUMMARY Patients with Lynch syndrome and rectal cancer present a unique clinical challenge. Management of the primary rectal cancer and prophylactic removal of the colon should be considered. In patients requiring a mesorectal excision, a combined prophylactic colon removal can be considered. Although surveillance of the colon with frequent colonoscopies is an alternative, concerns of metachronous colon cancer development support prophylactic removal of the colon as an alternative. Since data are not available to confirm superiority of either approach, the final decision is greatly dependent upon a patient's wishes and preferences. Patients interested in pursuing simultaneous prophylactic colon removal can be offered total proctocolectomy with either ileal pouch anal-anastomosis as a sphincter-preserving alternative or a total proctocolectomy with end ileostomy.
Collapse
Affiliation(s)
- Jose G Guillem
- Memorial Sloan Kettering Cancer Center, Department of Surgery, Colorectal Service, 1275 York Avenue, C1077, New York, NY 10065, USA
| | - Corinna Bertelsen
- Memorial Sloan Kettering Cancer Center, Department of Surgery, Colorectal Service, 633 3rd Avenue, 1584A, New York, NY 10017, USA
| |
Collapse
|
|
22
|
Liska D, Kalady MF. Colorectal Surgery in Lynch Syndrome Patients: When and How? CURRENT COLORECTAL CANCER REPORTS 2015. [DOI: 10.1007/s11888-015-0262-9] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/13/2023]
|
|
23
|
Hereditary Colorectal Cancer and Polyposis Syndromes. Surg Oncol 2015. [DOI: 10.1007/978-1-4939-1423-4_20] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/24/2022]
|
|
24
|
Zahid A, Kumar S, Koorey D, Young CJ. Pouch adenomas in Familial Adenomatous Polyposis after restorative proctocolectomy. Int J Surg 2015; 13:133-136. [PMID: 25498488 DOI: 10.1016/j.ijsu.2014.11.048] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/08/2014] [Revised: 11/22/2014] [Accepted: 11/27/2014] [Indexed: 12/27/2022]
Abstract
INTRODUCTION Australian Clinical Practice Guidelines suggest six to twelve-monthly endoscopic pouch surveillance in patients after restorative proctocolectomy for Familial Adenomatous Polyposis (FAP). There are several reports of adenomas and carcinomas forming within the ileum, ileal pouch mucosa or residual rectal mucosa. A retrospective clinical study was performed to audit pouch endoscopic surveillance at a large Sydney tertiary referral Hospital. The aim was to evaluate adenoma development after restorative proctocolectomy for FAP and the adherence rate to published clinical guidelines. METHODS Thirty-nine patients who had restorative proctocolectomy for FAP from 1985 to 2011 were identified. Demographic data, details of surgery, original histopathology and details of follow-up pouch endoscopy and pathology findings were obtained. RESULTS Of the thirty-nine patients, twenty-seven patients were included in this study. Adenomas were found in twelve of 27 (44%) patients. Mean time to first polyp formation was 88 months and median time was 72 months (range 18-249 months). All polyps were either tubular or tubulovillous in histology. One polyp had high grade dysplasia. The remainder had mild or moderate dysplasia. Polyps were excised either endo-anally or during pouchoscopy. None of the five patients who had a hand-sewn ileal pouch-anal anastomosis (IPAA) developed polyps on follow-up, compared with 12 of the 22 (55%) with a double stapled anastomosis (fishers exact test; p=0.047 (two-tailed)). Of those who developed pouch adenomas, eight (67%) developed further pouch adenomas on follow-up. CONCLUSIONS This study supports guidelines recommending lifelong pouch surveillance after restorative proctocolectomy for FAP. Those who develop pouch adenomas may be at greater risk of developing further adenomas. Residual rectal mucosa at the pouch-anal anastomosis should be carefully examined.
Collapse
Affiliation(s)
- A Zahid
- Royal Prince Alfred Hospital, Australia; University of Sydney, Sydney, NSW, Australia
| | - S Kumar
- Royal Prince Alfred Hospital, Australia
| | - D Koorey
- Royal Prince Alfred Hospital, Australia; University of Sydney, Sydney, NSW, Australia
| | - C J Young
- Department of Colorectal Surgery, Royal Prince Alfred Hospital, Camperdown, NSW, Australia; Royal Prince Alfred Hospital, Australia; University of Sydney, Sydney, NSW, Australia; Royal Prince Alfred Hospital Medical Centre, 100 Carillon Ave, Newtown, NSW 2042, Australia.
| |
Collapse
|
|
25
|
van Harten W, Stanta G, Bussolati G, Riegman P, Hoefler G, Becker K, Folprecht G, Truini M, Haybaeck J, Buiga R, Dono M, Bagg A, López Guerrero J, Zupo S, Lemare F, de Lorenzo F, Goedbloed N, Razavi D, Lövey J, Cadariu P, Rollandi G, Paparo F, Pierotti M, Ciuleanu T, De Paoli P, Weiner G, Saghatchian M, Lombardo C. Report from the OECI Oncology Days 2014. Ecancermedicalscience 2014; 8:496. [PMID: 25624877 PMCID: PMC4303612 DOI: 10.3332/ecancer.2014.496] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/04/2014] [Indexed: 11/06/2022] Open
Abstract
The 2014 OECI Oncology Days was held at the 'Prof. Dr. Ion Chiricuta' Oncology Institute in Cluj, Romania, from 12 to 13 June. The focus of this year's gathering was on developments in personalised medicine and other treatment advances which have made the cost of cancer care too high for many regions throughout Europe.
Collapse
Affiliation(s)
- Wh van Harten
- The Netherlands Cancer Institute, Amsterdam,The Netherlands
| | - G Stanta
- Department of Medical Sciences, University of Trieste, Trieste, Italy
| | - G Bussolati
- Department of Medical Sciences, University of Torino, Torino, Italy
| | - P Riegman
- Erasmus Medical Centre, Rotterdam, The Netherlands
| | - G Hoefler
- Johannes Haybaeck, Institute of Pathology, Medical University of Graz, Graz, Austria
| | - Kf Becker
- Institute of Pathology, Technische Universität München, München, Germany
| | - G Folprecht
- University Cancer Centre, University Hospital Carl Gustav Carus, Dresden, Germany
| | - M Truini
- IRCCS AOU San Martino/IST National Cancer Institute of Genoa, Genoa, Italy
| | - J Haybaeck
- Johannes Haybaeck, Institute of Pathology, Medical University of Graz, Graz, Austria
| | - R Buiga
- The Oncology Institute "Prof. Dr. Ion Chircuţă", Cluj-Napoca, Romania
| | - M Dono
- IRCCS AOU San Martino/IST, National Cancer Institute of Genoa, Italy
| | - A Bagg
- Hematology, University of Pennsylvania, PA, USA
| | | | - S Zupo
- IRCCS AOU San Martino/IST, National Cancer Institute of Genoa, Italy
| | - F Lemare
- Clinical Pharmacy Department, Gustave Roussy Comprehensive Cancer Centre, Villejuif, France
| | - F de Lorenzo
- European Cancer Patient Coalition, Brussels, Belgium
| | - N Goedbloed
- The Netherlands Cancer Institute, Amsterdam,The Netherlands
| | - D Razavi
- Institut Jules Bordet et Université Libre de Bruxelles, Clinique de Psycho-Oncologie et des Soins Supportifs, Brussels, Belgium
| | - J Lövey
- National Institute of Oncology, Budapest, Hungary
| | - Pa Cadariu
- The Oncology Institute "Prof. Dr. Ion Chircuţă", Cluj-Napoca, Romania
| | - Ga Rollandi
- Department of Radiology, E.O. Ospedali Galliera, Mura della Cappuccine, Genoa, Italy
| | - F Paparo
- Department of Radiology, E.O. Ospedali Galliera, Mura della Cappuccine, Genoa, Italy
| | - M Pierotti
- IRCCS Fondazione Istituto Nazionale Tumori Milan, Milan, Italy
| | - T Ciuleanu
- The Oncology Institute "Prof. Dr. Ion Chircuţă", Cluj-Napoca, Romania
| | - P De Paoli
- Centro di Riferimento Oncologico, IRCCS, Aviano, Italy
| | | | - M Saghatchian
- Medical Oncology Department, Gustave Roussy Comprehensive Cancer Centre, Villejuif, France
| | - Claudio Lombardo
- Organisation of the European Cancer Institutes, C/o SOS Europe, Genoa, Italy
| |
Collapse
|
|
26
|
Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing. Fam Cancer 2014; 14:69-75. [DOI: 10.1007/s10689-014-9765-9] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/24/2022]
|
|
27
|
Abstract
Ileal pouch-anal anastomosis is currently accepted as the standard method to restore continence after total proctocolectomy for medically refractory ulcerative colitis and familial adenomatous polyposis. Ileal pouches offer improved quality of life and high patient satisfaction; however, there are many pouch-related complications due to the original disease process and change in anatomy. This is a review article of the common and some rare surgical complications after J pouches, which can be subdivided into the septic and nonseptic categories. Septic-related complications include anastomotic leak, abscess, and fistulas, whereas common nonseptic-related complications include small bowel obstruction, strictures, Crohn's disease, pouchitis, and cuffitis. Rare nonseptic complications to be discussed are prolapse, volvulus, and neoplasia.
Collapse
|
|
28
|
Sehgal R, Sheahan K, O'Connell PR, Hanly AM, Martin ST, Winter DC. Lynch syndrome: an updated review. Genes (Basel) 2014; 5:497-507. [PMID: 24978665 PMCID: PMC4198913 DOI: 10.3390/genes5030497] [Citation(s) in RCA: 98] [Impact Index Per Article: 8.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/03/2013] [Revised: 04/30/2014] [Accepted: 05/09/2014] [Indexed: 01/05/2023] Open
Abstract
Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%-70% lifetime risk of colorectal cancer, 40%-60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2. In a subset of patients, Lynch syndrome is caused by 3' end deletions of the EPCAM gene, which can lead to epigenetic silencing of the closely linked MSH2. Relying solely on age and family history based criteria inaccurately identifies eligibility for Lynch syndrome screening or testing in 25%-70% of cases. There has been a steady increase in Lynch syndrome tumor screening programs since 2000 and institutions are rapidly adopting a universal screening approach to identify the patients that would benefit from genetic counseling and germline testing. These include microsatellite instability testing and/or immunohistochemical testing to identify tumor mismatch repair deficiencies. However, universal screening is not standard across institutions. Furthermore, variation exists regarding the optimum method for tracking and disclosing results. In this review, we summarize traditional screening criteria for Lynch syndrome, and discuss universal screening methods. International guidelines are necessary to standardize Lynch syndrome high-risk clinics.
Collapse
Affiliation(s)
- Rishabh Sehgal
- Centre for Colorectal Disease, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
| | - Kieran Sheahan
- Centre for Colorectal Disease, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
| | - Patrick R O'Connell
- Centre for Colorectal Disease, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
| | - Ann M Hanly
- Centre for Colorectal Disease, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
| | - Sean T Martin
- Centre for Colorectal Disease, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
| | - Desmond C Winter
- Centre for Colorectal Disease, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
| |
Collapse
|
|
29
|
Abstract
This review focuses on molecular genetic testing for heritable disorders. Molecular genetic testing has generated tremendous interest because of the scientific and social hype surrounding the Human Genome Project, the accelerating rate of gene discovery, the quick transition of scientific discoveries into clinically applicable genetic tests and the unique nonmedical applications of genetic testing. All of these developments have been superimposed upon increasing individual autonomy in medical care and the pervasive information-seeking behavior of the Information Age.
Collapse
Affiliation(s)
- Roberta A Pagon
- GeneTests, University of Washington School of Medicine, Seattle, WA, USA.
| |
Collapse
|
|
30
|
Tajika M, Niwa Y, Bhatia V, Tanaka T, Ishihara M, Yamao K. Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis. World J Gastroenterol 2013; 19:6774-6783. [PMID: 24187452 PMCID: PMC3812476 DOI: 10.3748/wjg.v19.i40.6774] [Citation(s) in RCA: 35] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/26/2013] [Revised: 07/17/2013] [Accepted: 08/20/2013] [Indexed: 02/06/2023] Open
Abstract
Restorative proctocolectomy is the most common surgical option for patients with familial adenomatous polyposis (FAP). However, adenomas may develop in the ileal pouch mucosa over time, and even carcinoma in the pouch has been reported. We therefore reviewed the prevalence, nature, and treatment of adenomas and carcinoma that develop after proctocolectomy in the ileal pouch mucosa in patients with FAP. In 25 reports that were reviewed, the incidence of adenomas in the ileal pouch varied from 6.7% to 73.9%. Several potential factors that favor the development of pouch polyposis have been investigated, but many remain controversial. Nevertheless, it seems certain that the age of the pouch is important. The risk appears to be 7% to 16% after 5 years, 35% to 42% after 10 years, and 75% after 15 years. On the other hand, only 21 cases of ileal pouch carcinoma have been recorded in the literature to date. The diagnosis of pouch carcinoma was made between 3 to 20 years (median, 10 years) after pouch construction. Although the risk of malignant transformation in ileal pouches is probably low, it is not negligible, and the long-term risk cannot presently be well quantified. Regular endoscopic surveillance, especially using chromoendoscopy, is recommended.
Collapse
|
|
31
|
Septer S, Slowik V, Morgan R, Dai H, Attard T. Thyroid cancer complicating familial adenomatous polyposis: mutation spectrum of at-risk individuals. Hered Cancer Clin Pract 2013; 11:13. [PMID: 24093640 PMCID: PMC3854022 DOI: 10.1186/1897-4287-11-13] [Citation(s) in RCA: 23] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/02/2013] [Accepted: 09/30/2013] [Indexed: 12/30/2022] Open
Abstract
Background Lifetime risk of thyroid cancer associated with FAP has been reported as 1-2%. The mean age at diagnosis of thyroid carcinoma in FAP has been reported at 28 years. The aims of this paper are to better understand gene mutations associated with thyroid cancer and refine surveillance recommendations for patients with FAP. Methods We performed a search in Pubmed, Ovid Medline and Embase with the terms ("Thyroid Gland"[Mesh] OR "Thyroid Neoplasms"[Mesh]) AND "Adenomatous Polyposis Coli"[Meshdenomatous Polyposis Coli"[Mesh] to identify subjects with thyroid cancer and FAP. As a reference group for APC mutations in the unselected FAP population, we used the UMD-APC database referenced in the Orphanet portal, which includes APC mutation data on 2040 individuals with FAP. Results There were 115 reported cases of thyroid cancer in patients with FAP (95 female: 11 male) with an average age of 29.2 years. Gene mutation testing results were reported in 48 patients. On comparing the prevalence of APC mutation in the population of FAP patients with thyroid cancer and the prevalence of the same mutation in the reference population an increased odds ratio was evident in individuals harboring an APC mutation at codon 1061 (OR: CI 4.1: 1.7-8.9). Analysis of the prevalence of thyroid cancer in individuals with FAP segregated by the region of the gene affected shows an increased risk of thyroid cancer in individuals harboring mutations proximal to codon 512 (OR 2.6, p 0.0099). Conclusions There is increased risk for thyroid cancer in individuals with APC mutations at the 5' end (proximal to codon 528) along with the established high risk group harboring mutation at codon 1061. It is suggested that these patients might benefit from directed surveillance by annual ultrasound from age 18 years onwards.
Collapse
Affiliation(s)
- Seth Septer
- Section of Pediatric Gastroenterology, Children's Mercy Hospital, Kansas City, MO, USA.
| | | | | | | | | |
Collapse
|
|
32
|
Warrier SK, Kalady MF, Kiran RP, Church JM. Results from an American Society of Colon and Rectal Surgeons survey on the management of young-onset colorectal cancer. Tech Coloproctol 2013; 18:265-72. [PMID: 23893218 DOI: 10.1007/s10151-013-1052-5] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/18/2013] [Accepted: 07/14/2013] [Indexed: 12/21/2022]
Abstract
BACKGROUND Young patients with colorectal cancer (CRC) present a diagnostic and clinical challenge. The aim of our study was to survey the approaches to preoperative evaluation and clinical management of young patients with CRC by colorectal surgeons in North America. METHODS A standard electronic survey was sent to the members of the American Society of Colon and Rectal Surgeons. The survey polled management decisions in various clinical scenarios for CRC patients less than 50 years old. Survey responses were collated and analyzed. RESULTS One hundred ninety surgeons responded and 140 completed the entire survey (response rate 10%). Eighty percent of surgeons would offer preoperative genetic testing if the patient's family met the Amsterdam criteria compared to only 67% if the criteria were not met. Of those offering preoperative tumor testing, 48% test microsatellite instability, 19% mismatch repair protein expression by immunohistochemistry, and 24% offer both. Decisions regarding the extent of the resection for cancer were dependent on family history: Most members (86%) would perform a segmental colectomy for CRC in a patient without family history. Eighty-four percent of respondents would offer a total abdominal colectomy if preoperative tests indicated Lynch syndrome. When questioned about MYH-associated polyposis, only 27% recognized the appropriate diagnosis. CONCLUSIONS Among the American Society of Colon and Rectal Surgeons, family history influences preoperative testing and surgical management decisions. A significant portion of surgeons do not offer preoperative genetic testing, despite implications on operative management, postoperative surveillance, and screening of family members.
Collapse
Affiliation(s)
- S K Warrier
- Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, 9500 Euclid Ave, A30, Cleveland, OH, 44195, USA,
| | | | | | | |
Collapse
|
|
33
|
Burton-Chase AM, Hovick SR, Peterson SK, Marani SK, Vernon SW, Amos CI, Frazier ML, Lynch PM, Gritz ER. Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families. Clin Genet 2013; 83:215-20. [PMID: 23414081 PMCID: PMC3833250 DOI: 10.1111/cge.12091] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2012] [Revised: 01/03/2013] [Indexed: 12/13/2022]
Abstract
The purpose of this study was to examine colonoscopy adherence and attitudes toward colorectal cancer (CRC) screening in individuals who underwent Lynch syndrome genetic counseling and testing. We evaluated changes in colonoscopy adherence and CRC screening attitudes in 78 cancer-unaffected relatives of Lynch syndrome mutation carriers before pre-test genetic counseling (baseline) and at 6 and 12 months post-disclosure of test results (52 mutation negative and 26 mutation positive). While both groups were similar at baseline, at 12 months post-disclosure, a greater number of mutation-positive individuals had had a colonoscopy compared with mutation-negative individuals. From baseline to 12 months post-disclosure, the mutation-positive group demonstrated an increase in mean scores on measures of colonoscopy commitment, self-efficacy, and perceived benefits of CRC screening, and a decrease in mean scores for perceived barriers to CRC screening. Mean scores on colonoscopy commitment decreased from baseline to 6 months in the mutation-negative group. To conclude, adherence to risk-appropriate guidelines for CRC surveillance improved after genetic counseling and testing for Lynch syndrome. Mutation-positive individuals reported increasingly positive attitudes toward CRC screening after receiving genetic test results, potentially reinforcing longer term colonoscopy adherence.
Collapse
Affiliation(s)
- A M Burton-Chase
- Department of Behavioral Science, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
| | | | | | | | | | | | | | | | | |
Collapse
|
|
34
|
Francone TD, Champagne B. Considerations and complications in patients undergoing ileal pouch anal anastomosis. Surg Clin North Am 2013. [PMID: 23177068 DOI: 10.1016/j.suc.2012.09.004] [Citation(s) in RCA: 37] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
Total proctocolectomy with ileal pouch anal anastomosis (IPAA) preserves fecal continence as an alternative to permanent end ileostomy in select patients with ulcerative colitis and familial adenomatous polyposis. The procedure is technically demanding, and surgical complications may arise. This article outlines both the early and late complications that can occur after IPAA, as well as the workup and management of these potentially morbid conditions.
Collapse
Affiliation(s)
- Todd D Francone
- Department of Colon and Rectal Surgery, University of Rochester Medical Center, Rochester, NY 14642, USA.
| | | |
Collapse
|
|
35
|
Vitellaro M, Ferrari A, Trencheva K, Sala P, Massimino M, Piva L, Bertario L. Is laparoscopic surgery an option to support prophylactic colectomy in adolescent patients with Familial Adenomatous Polyposis (FAP)? Pediatr Blood Cancer 2012; 59:1223-8. [PMID: 22378577 DOI: 10.1002/pbc.24113] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/15/2011] [Accepted: 01/30/2012] [Indexed: 12/20/2022]
Abstract
BACKGROUND Prophylactic surgery is still considered the standard treatment for patients with Familial Adenomatous Polyposis (FAP). Laparoscopic (Lap) surgery has been introduced as an alternative approach. The aim was to evaluate the feasibility and short- to long-term outcomes after prophylactic FAP surgery in adolescent. PROCEDURES A retrospective review of a database of adolescent patients with FAP identified through the Hereditary Colorectal Tumor Registry in a single Institution between 2005 and 2011. Patients underwent Lap total colectomy (TC) with ileo-rectal anastomosis (IRA) or proctocolectomy (PC) with ileal-pouch anal anastomosis (IPAA). The main outcomes were: Hospital stay, postoperative complications, desmoid tumor rates, tumor recurrence, long-term complications. RESULTS Sixteen consecutive patients with median age 16 (range 13-19) and median BMI 22 (17-29) underwent surgery. [correction made here after initial online publication]. Of them 14 patients had LAP TC with IRA and 2 had PC with IPAA. Operative time (median, range) was TC/IRA 270 (210-330) minutes; PC/IPAA 370 (360-380) minutes. Length of extraction site was cm (median, range) 6(5-8). Lymph Node harvest (median, range) 81 (32-139). Postoperative stay days (median, range) were 6 (4-24). Five patients (31.2%) showed dysplasia on the pathological report and 3 of them showed severe dysplasia. Median follow-up time (FU) was 39 months, range (10-82). The anastomotic leak rate for 30 days was 2 (12.5%). Pouch failure was 0. Post-surgical desmoid tumors rate was 1 (6.2%) and there was no tumor recurrence. Anastomotic stricture, SBO and mortality were zero. CONCLUSIONS Lap approach is feasible and shows acceptable postoperative outcomes. Lap surgery can be an appealing alternative for prophylactic surgery in adolescent FAP patients. Pediatr Blood Cancer 2012; 59: 1223-1228. © 2012 Wiley Periodicals, Inc.
Collapse
Affiliation(s)
- Marco Vitellaro
- Colorectal Cancer Surgery Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
| | | | | | | | | | | | | |
Collapse
|
|
36
|
|
|
37
|
James AS, Chisholm P, Wolin KY, Baxter M, Kaphingst K, Davidson NO. Screening and Health Behaviors among Persons Diagnosed with Familial Adenomatous Polyposis and Their Relatives. J Cancer Epidemiol 2012; 2012:506410. [PMID: 22899922 PMCID: PMC3414059 DOI: 10.1155/2012/506410] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/16/2012] [Revised: 06/08/2012] [Accepted: 06/19/2012] [Indexed: 01/02/2023] Open
Abstract
Familial Adenomatous Polyposis (FAP) is a rare autosomal dominantly inherited colorectal cancer syndrome. Individuals with FAP often undergo colectomy and are recommended to follow several surveillance protocols. Biological relatives of persons with FAP may also be at risk and thus should undergo genetic counseling. Screening adherence, genetic testing, and other health behaviors among individuals with FAP and their relatives are not well characterized. We conducted a cross-sectional self-report survey with individuals who have FAP (n = 35) and their biological relatives (n = 15). Respondents were recruited through a cancer center registry for inherited colon cancers. Most relatives had undergone colon cancer screening; 40% had undergone genetic testing. One fifth of respondents with FAP had not undergone an upper endoscopy, contrary to usual recommendations. Cigarette smoking rates were above average and were higher among FAP respondents. Use of vitamin supplements was fairly common, more so among those with FAP. Although most people had been screened, there are areas for improvement, notably for upper endoscopy among individuals with FAP and genetic testing among family members. Several other health-risk behaviors and health concerns other than FAP were identified. Further research into factors contributing to screening rates and other health behaviors in this high-risk population is warranted.
Collapse
Affiliation(s)
- Aimee S. James
- Division of Public Health Sciences, Department of Surgery, Washington University in Saint Louis, 660 So. Euclid Avenue, P.O. Box 8100, Saint Louis, MO 63110, USA
| | - Phillip Chisholm
- Department of Medicine, Washington University in Saint Louis, 4950 Children's place St. Louis, MO 63110, USA
| | - Kathleen Y. Wolin
- Division of Public Health Sciences, Department of Surgery, Washington University in Saint Louis, 660 So. Euclid Avenue, P.O. Box 8100, Saint Louis, MO 63110, USA
| | - Melanie Baxter
- Siteman Cancer Center, Washington University in Saint Louis, 660 So. Euclid Avenue, P.O. Box 8100, Saint Louis, MO 63110, USA
| | - Kimberly Kaphingst
- Division of Public Health Sciences, Department of Surgery, Washington University in Saint Louis, 660 So. Euclid Avenue, P.O. Box 8100, Saint Louis, MO 63110, USA
| | - Nicholas O. Davidson
- Division of Gastroenterology, Department of Medicine, Washington University in Saint Louis, 660 So. Euclid Avenue, P.O. Box 8124, Saint Louis, MO 63110, USA
| |
Collapse
|
|
38
|
Risk of colonic neoplasia after proctectomy for rectal cancer in hereditary nonpolyposis colorectal cancer. Ann Surg 2012; 255:1121-5. [PMID: 22549751 DOI: 10.1097/sla.0b013e3182565c0b] [Citation(s) in RCA: 46] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Abstract
OBJECTIVE To define the neoplastic risk in the remaining colon after proctectomy for rectal cancer in patients with hereditary nonpolyposis colorectal cancer (HNPCC). BACKGROUND The extent of surgery for rectal cancer in HNPCC is controversial. In determining which operation to perform, surgeons and patients must consider cancer risk in the remaining colon as well as functional consequences of removing the entire colorectum. The natural history of colon neoplasia in this situation is understudied and is not well-defined. METHODS A single-institution hereditary colorectal cancer database was queried for patients meeting Amsterdam criteria and with rectal cancer. Patient demographics, surgical management, and follow-up were recorded. RESULTS Fifty HNPCC patients with a primary diagnosis of rectal cancer treated by proctectcomy were included. Detailed follow-up colonoscopy data were available for 33 patients. Forty-eight high-risk adenomas developed in 13 patients (39.4%). Five patients (15.2%) developed metachronous adenocarcinoma at a median of 6 years (range 3.5-16) after proctectomy, including 3 at advanced stage. One of these patients developed a high-risk adenoma before cancer. Mean interval between the last normal colonoscopy and cancer discovery was 42 months (range 23.8-62.1) with one developing within 2 years. Thus, 17 of 33 patients (51.5%) developed high-risk adenoma or cancer after proctectomy. CONCLUSIONS Surgeons and patients need to be aware of substantial risk for metachronous neoplasia after proctectomy. Selection of operation should be individualized, but total proctocolectomy and ileoanal pouch should be strongly considered. If patients undergo proctectomy alone, close surveillance is mandatory.
Collapse
|
|
39
|
Stupart DA, Goldberg PA, Baigrie RJ, Algar U, Ramesar R. Surgery for colonic cancer in HNPCC: total vs segmental colectomy. Colorectal Dis 2011; 13:1395-9. [PMID: 20969713 DOI: 10.1111/j.1463-1318.2010.02467.x] [Citation(s) in RCA: 24] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/01/2023]
Abstract
AIM The high reported risk of metachronous colon cancer (MCC) in hereditary nonpolyposis colorectal cancer (HNPCC) has led some authors to recommend total colectomy (TC) as the preferred operation for primary colon cancer, but this remains controversial. No previous study has compared survival after TC with segmental colectomy (SC) in HNPCC. The aim of this study was to determine the risk of developing MCC in patients with genetically proven HNPCC after SC or TC for cancer, and to compare their long-term survival. METHOD This is a prospective cohort study of all patients referred to our unit between 1995 and 2009 with a proven germline mismatch repair gene defect, who had undergone a resection for adenocarcinoma of the colon with curative intent. All patients were offered annual endoscopic surveillance. RESULTS Of 60 patients in the study, 39 had TC as their initial surgery and 21 had SC. After 6 years follow up, MCC occurred in eight (21%) SC patients and in none of the TC patients (P = 0.048). The risk of developing MCC after SC was 20% at 5 years. Colorectal cancer-specific survival was better in TC patients (P = 0.048) but overall survival of the two groups was similar (P = 0.29). CONCLUSION Patients with HNPCC have a significant risk of MCC after SC. This is eliminated by performing TC as the primary operation for colonic cancer.
Collapse
Affiliation(s)
- D A Stupart
- Colorectal Unit, Department of Surgery, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.
| | | | | | | | | |
Collapse
|
|
40
|
Abstract
Colorectal cancer is common in the Western world; ~5% of individuals diagnosed with colorectal cancer have an identifiable inherited genetic predisposition to this malignancy. Genetic testing and rational clinical management recommendations currently exist for the management of individuals with a variety of colorectal cancer syndromes, including hereditary nonpolyposis colorectal cancer (HNPCC, also known as Lynch syndrome), familial adenomatous polyposis (FAP), MYH-associated polyposis (MAP), and the hamartomatous polyposis syndromes (Peutz-Jeghers, juvenile polyposis, and Cowden disease). In addition to colorectal neoplasia, these syndromes frequently predispose carriers to a variety of extracolonic cancers. The elucidation of the genetic basis of several colorectal cancer predisposition syndromes over the past two decades has allowed for better management of individuals who are either affected with, or at-risk for inherited colorectal cancer syndromes. Appropriate multidisciplinary management of these individuals includes genetic counseling, genetic testing, clinical screening, and treatment recommendations.
Collapse
Affiliation(s)
- Robert Gryfe
- Department of Surgery, Mount Sinai Hospital, Toronto, Ontario, Canada
| |
Collapse
|
|
41
|
Kalady MF, Church JM. Monitoring and Management of Desmoids and Other Extracolonic Manifestations in Familial Adenomatous Polyposis. SEMINARS IN COLON AND RECTAL SURGERY 2011. [DOI: 10.1053/j.scrs.2010.12.011] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
|
|
42
|
Spanos CP. Sexual Function and Fertility Aspects in the Management of Hereditary Colorectal Cancer. SEMINARS IN COLON AND RECTAL SURGERY 2011. [DOI: 10.1053/j.scrs.2010.12.017] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
|
|
43
|
Carmichael JC, Mills S. Surgical Management of Familial Adenomatous Polyposis. SEMINARS IN COLON AND RECTAL SURGERY 2011. [DOI: 10.1053/j.scrs.2010.12.010] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
|
|
44
|
Cannom RR, Kaiser AM. Management of Young Amsterdam- and Marker-Negative Patients with Colorectal Cancer. SEMINARS IN COLON AND RECTAL SURGERY 2011; 22:127-130. [DOI: 10.1053/j.scrs.2010.12.014] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
|
|
45
|
Wei W, Shang XJ, Lv BZ. Serum proteomic analysis of hereditary nonpolyposis colorectal cancer. Shijie Huaren Xiaohua Zazhi 2011; 19:1417-1421. [DOI: 10.11569/wcjd.v19.i13.1417] [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] [Indexed: 02/06/2023] Open
Abstract
AIM: To identify differentially expressed serum proteins between preoperative patients with hereditary nonpolyposis colorectal cancer (HNPCC) and those with sporadic colorectal cancer to find potential markers for the diagnosis of HNPCC.
METHODS: The composition of serum proteins was detected by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF-MS) and protein chip assay in 20 preoperative HNPCC patients and 25 patients with sporadic colorectal cancer. Discriminatory serum protein profiles were analyzed with the Biomarker Wizard software and Biomarker Pattern software.
RESULTS: Two proteins (m/z 7 516.68 Da and 4 827.07 Da) were chosen to create a decision classification tree model which could discriminate the two groups of patients. In the test mode, the accuracy, sensitivity, specificity, and positive predictive value of the model for prediction of HNPCC was 86.7%, 72.3%, 95.1% and 92.5%, respectively, while the corresponding values for blinded validation were 75.6%, 100%, 69.8% and 99.2%, respectively.
CONCLUSION: The classification tree model constructed with two differentially expressed proteins identified by SELDI-TOF-MS between HNPCC patients and patients with sporadic colorectal cancer possesses high sensitivity and specificity in the prediction of HNPCC.
Collapse
|
|
46
|
Steinhagen E, Markowitz AJ, Guillem JG. How to manage a patient with multiple adenomatous polyps. Surg Oncol Clin N Am 2011; 19:711-23. [PMID: 20883948 DOI: 10.1016/j.soc.2010.08.004] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/25/2022]
Abstract
Adenomatous polyps are found on screening colonoscopy in 22.5% to 58.2% of the adult population and therefore represent a common problem. Patients with multiple adenomatous polyps are of unique interest because a proportion of these patients have an inheritable form of colorectal cancer. This article discusses the history and clinical features, genetic testing, surveillance, and treatments for the condition.
Collapse
Affiliation(s)
- Emily Steinhagen
- Colorectal Service, Department of Surgery, The Hereditary Colorectal Cancer Family Registry, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
| | | | | |
Collapse
|
|
47
|
Abstract
HNPCC is a diverse disease with significant colorectal and extracolonic malignancy risk. A high index of suspicion is necessary to identify patients and families who potentially have this disease. Patients suspected with Lynch syndrome should be referred for genetic counseling and testing for accurate diagnosis. Timely surveillance and intervention are essential to reduce the incidence and mortality from colorectal cancer. Once cancer is diagnosed, aggressive surgical management is warranted because there is significant metachronous colorectal neoplasia risk for all remaining colorectal mucosa. In medically fit patients, consideration should be given to colectomy for the treatment of colon cancer and proctocolectomy for the treatment of rectal cancer. For patients treated with anything less than total proctocolectomy, annual endoscopic surveillance of the remaining colorectum is mandatory.
Collapse
Affiliation(s)
- Matthew F Kalady
- Department of Colorectal Surgery, Sanford R. Weiss Center for Hereditary Colorectal Neoplasia, Digestive Disease Institute, Cleveland Clinic, 9500 Euclid Avenue, A30, Cleveland, OH 44195, USA.
| |
Collapse
|
|
48
|
Laparoscopic colectomy and restorative proctocolectomy for familial adenomatous polyposis. Surg Endosc 2010; 25:1866-75. [PMID: 21136106 DOI: 10.1007/s00464-010-1478-z] [Citation(s) in RCA: 25] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/17/2010] [Accepted: 10/15/2010] [Indexed: 01/21/2023]
Abstract
BACKGROUND Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome. Risk of cancer begins to increase after age 20 years if not treated. The purpose of this study was to evaluate the feasibility and short- and long-term outcomes after laparoscopic prophylactic surgery for FAP. METHODS Fifty-five patients with FAP were identified through the Hereditary Colorectal Tumor Registry from 2003 to 2009. Patients with laparoscopic total colectomy (TC)/IRA or proctocolectomy (TPC)/ileal pouch-anal anastomosis IPAA were included. Patients with previous colon or abdominal major surgery, malignancy, and desmoids before surgery were excluded. Main outcomes were: 30 days anastomotic leak and pouch failure; long-term desmoids and malignant recurrence. RESULTS Of the 55 patients, 32 were men, median age was 28 years, and mean body mass index was 23. Median follow-up time was 36 (range, 5-77) months. Forty-four patients had laparoscopic TC/IRA and ten had laparoscopic TPC/IPAA. One patient was converted to open surgery and received an open TPC/IPAA. Incision length was 7 (range, 5-14) cm. Anastomotic leak was 3 (5.4%: 2 laparoscopic and 1 open), and pouch failure was 0. Median postsurgical length of stay was 7 (range, 4-24) days. Desmoids occurred in three patients (5.4%), and there was no malignant recurrence within the follow-up period. Pathology revealed severe dysplasia in ten patients and adenocarcinoma in nine (8 laparoscopic and 1 open). Long-term small-bowel obstruction was 2 (3.6%). One mortality due to liver metastases occurred at 24 months. CONCLUSIONS Laparoscopic prophylactic treatment of FAP appears to be safe and feasible and may be an appealing alternative to open surgery. If the goal of prophylactic FAP surgery is to avoid cancer occurrence, laparoscopic surgery could be an important advancement.
Collapse
|
|
49
|
de Campos FGCM, Nicácio De Freitas I, Imperiale AR, Seid VE, Perez RO, Nahas SC, Cecconello I. [Colorectal cancer in familial adenomatous polyposis: Are there clinical predictive factors?]. Cir Esp 2010; 88:390-7. [PMID: 21056411 DOI: 10.1016/j.ciresp.2010.05.013] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/09/2010] [Revised: 04/20/2010] [Accepted: 05/09/2010] [Indexed: 01/02/2023]
Abstract
BACKGROUND Familial Adenomatous Polyposis (FAP) is a hereditary disorder with multiple colorectal polyps that exhibit an almost inevitable risk of colorectal cancer (CRC) in untreated patients. GOALS To evaluate clinical features related to CRC risk at diagnosis. MATERIAL AND METHODS Charts from 88 patients were reviewed to collect information regarding age, family history, symptoms, polyposis severity and association with CRC. RESULTS 41 men (46.6%) and 47 women (53.4%) were assisted. CRC was detected in 53 patients (60.2%), with a frequency of 9.1% under 20 years, 58% between 21-40 and 85% over 41 years of age. Average age of patients without CRC was lower at treatment (29.5 vs. 40.0 years; p=0.001). Family history was reported by 58 patients (65.9%), whose average age did not differ from those who didn't report it (33.4 vs. 34.4; p=0.17). Asymptomatic patients comprised 10.2% of the total; in this group, CRC incidence was much lower when compared to those presenting symptoms (1.1% vs. 65.8%; p=0.001). Patients without CRC presented a shorter length of symptoms (15.2 vs. 26.4 months; p=0.03) and less frequent weight loss (11.4% vs. 33.9%; p=0.01). At colonoscopy, polyposis was classified as attenuated in 12 patients (14.3%), who presented greater average age (48.2 vs. 33.3 years; p=0.02) and equal CRC incidence (58.3% vs. 58.3%; p=0.6) when compared to those with classic polyposis. CONCLUSIONS The risk of CRC in FAP patients 1) increases significantly after the second decade; 2) is associated with higher age, weight loss, presence and duration of simptomatology; 3) is similar in patients with attenuated or classic phenotype.
Collapse
|
|
50
|
Abstract
Rapidly evolving knowledge of the pathogenesis and natural history of colorectal cancer (CRC), especially in high-risk groups, is allowing the development of new tools to identify those who will benefit most from preventive measures. Currently, screening for adenomas, dysplasia, and early-stage invasive cancers provides the best opportunity to prevent and improve survival from CRC. Screening of high-risk groups almost always includes colonoscopy. This review discusses what represents quality colonoscopy. Proper risk stratification, understanding the natural history of each disease, proper patient counseling, and optimal techniques all help define quality colonoscopy in high-risk groups.
Collapse
Affiliation(s)
- Robert S Bresalier
- Department of Gastroenterology, Hepatology and Nutrition, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 1466, Houston, TX 77030-4009, USA.
| |
Collapse
|