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Aoun RJN, Kalady MF. Hereditary Colorectal Cancer: From Diagnosis to Surgical Options. Clin Colon Rectal Surg 2025; 38:179-190. [PMID: 40292001 PMCID: PMC12020645 DOI: 10.1055/s-0044-1787884] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/30/2025]
Abstract
Hereditary colorectal cancer (CRC) syndromes account for up to 5% of CRC. Patients have an increased risk of CRC and extracolonic cancers, both of which develop at an early age. The main polyposis syndromes include familial adenomatous polyposis, MYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and PTEN hamartoma syndrome. The non-polyposis syndromes include Lynch syndrome and familial colorectal cancer type X. Each of the syndromes have distinct but sometimes overlapping phenotypes. Clinical evaluation and ultimately the underlying germline genetic pathogenic variants define the syndromes. Each syndrome has polyp, CRC, and extracolonic risks and management is based on early and timely surveillance with therapeutic and often extended prophylactic surgery. Surgical intervention strategies are individualized, considering not only the earlier onset of malignancies and heightened risks for metachronous cancers but also the patient's needs and quality of life. This article reviews the different diagnostic approaches to hereditary CRC and highlights subsequent disease-specific management and surgical decision-making strategies.
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Affiliation(s)
- Rami James N. Aoun
- Division of Colon and Rectal Surgery, Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio
| | - Matthew F. Kalady
- Division of Colon and Rectal Surgery, Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio
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Verma A, Kanneganti P, Kumar B, Upadhyaya VD, Mandelia A, Naik PB, Kumar T, Agarwal N. Peutz-Jeghers syndrome: management for recurrent intussusceptions. Pediatr Surg Int 2024; 40:148. [PMID: 38825635 DOI: 10.1007/s00383-024-05723-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 05/23/2024] [Indexed: 06/04/2024]
Abstract
BACKGROUND Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous gastrointestinal polyps along with the characteristic mucocutaneous freckling. Multiple surgeries for recurrent intussusception in these children may lead to short bowel syndrome. Here we present our experience of management in such patients. METHODS From January 2015 to December 2023, we reviewed children of PJS, presented with recurrent intussusceptions. Data were collected regarding presentation, management, and follow-up with attention on management dilemma. Diagnosis of PJS was based on criteria laid by World Health Organization (WHO). RESULTS A total of nine patients were presented with age ranging from 4 to 17 years (median 9 years). A total of eighteen laparotomies were performed (7 outside, 11 at our centre). Among 11 laparotomies done at our centre, resection and anastomosis of bowel was done 3 times while 8 times enterotomy and polypectomy was done after reduction of intussusception. Upper and lower gastrointestinal endoscopy (UGIE & LGIE) was done in all cases while intraoperative enteroscopy (IOE) performed when required. Follow-up ranged from 2 months to 7 years. CONCLUSION Children with PJS have a high risk of multiple laparotomies due to polyps' complications. Considering the diffuse involvement of the gut, early decision of surgery and extensive bowel resection should not be done. Conservative treatment must be tried under close observation whenever there is surgical dilemma. The treatment should be directed in the form of limited resection or polypectomy after reduction of intussusception.
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Affiliation(s)
- Anju Verma
- Department of Paediatric Surgery, SGPGIMS, Lucknow, 226014, India.
| | | | - Basant Kumar
- Department of Paediatric Surgery, SGPGIMS, Lucknow, 226014, India
| | | | - Ankur Mandelia
- Department of Paediatric Surgery, SGPGIMS, Lucknow, 226014, India
| | - Prathibha B Naik
- Department of Paediatric Surgery, SGPGIMS, Lucknow, 226014, India
| | - Tarun Kumar
- Department of Paediatric Surgery, SGPGIMS, Lucknow, 226014, India
| | - Nishant Agarwal
- Department of Paediatric Surgery, SGPGIMS, Lucknow, 226014, India
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Savelyeva ТA, Ponomarenko АA, Shelygin YA, Kuzminov АM, Vyshegorodtsev DV, Loginova АN, Pikunov DY, Goncharova ЕP, Likutov АA, Mainovskaya ОA, Tsukanov АS. The course and clinical manifestations of Peutz–Jeghers syndrome in the Russian population. TERAPEVT ARKH 2023; 95:145-151. [PMID: 37167130 DOI: 10.26442/00403660.2023.02.202059] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/29/2023] [Accepted: 03/29/2023] [Indexed: 04/01/2023]
Abstract
Background. PeutzJeghers syndrome (PJS) is a rare hereditary syndrome characterized by the growth of hamartomatous polyps in the gastrointestinal tract, perioral pigmentation and an increased risk of malignant neoplasms. The syndrome is caused by a pathogenic variant in the STK11 gene.
Aim. To assess the clinical picture and treatment of Russian patients with PJS.
Materials and methods. A retrospective analysis of 30 patients from 25 families with an established diagnosis of PJS who were in the Ryzikh State Scientific Center for Coloproctology from 2011 to 2021 was carried out. All patients underwent instrumental examination, including esophagogastroduodenoscopy, colonoscopy, X-ray examination of the small intestine/CT-enterography, in the absence of invaginates video capsule endoscopy, as well as molecular genetic examination for the presence of pathogenic variants in the STK11 gene. All removed polyps were subjected to the histological examination.
Results. The analysis of the clinical picture allowed us to establish the following data: the first complaints in patients were noted in childhood and adolescence, while the median age was 11 [7; 19] (0.524) years; pathogenic variants in the STK11 gene were identified in 26 (87%) cases, among which 10 were described for the first time; during the initial examination, polyps in the small intestine were detected in all 30 (100%) patients, in the stomach in 23/30 (77%) patients, and in the colon in 21/30 (70%); with an age, an increase in the number of polyps in all parts of the gastrointestinal tract was noted; before the diagnosis operations were performed urgently for intestinal obstruction; after the diagnosis of PJS, when polyps were detected in the gastrointestinal tract, endoscopic polypectomies were performed; if endoscopic removal of hamartomatous polyps was impossible, patients were operated as planned; malignant diseases of the predominantly reproductive system were detected in 8/30 (27%) patients. The median age of cancer detection was 52 [31; 52] (1759) years.
Conclusion. Russian patients with PJS have population-specific features in the clinical picture of the course of the disease, which dictates the need to develop their own recommendations for monitoring and treatment of such patients.
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Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology 2022; 162:2063-2085. [PMID: 35487791 DOI: 10.1053/j.gastro.2022.02.021] [Citation(s) in RCA: 40] [Impact Index Per Article: 13.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
Abstract
The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. The best understood hamartomatous polyposis syndrome is Peutz-Jeghers syndrome, caused by germline pathogenic variants in the STK11 gene. The management is focused on prevention of bleeding and mechanical obstruction of the small bowel by polyps and surveillance of organs at increased risk for cancer. Juvenile polyposis syndrome is caused by a germline pathogenic variant in either the SMAD4 or BMPR1A genes, with differing clinical courses. Patients with SMAD4 pathogenic variants may have massive gastric polyposis, which can result in gastrointestinal bleeding and/or protein-losing gastropathy. Patients with SMAD4 mutations usually have the simultaneous occurrence of hereditary hemorrhagic telangiectasia (juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia overlap syndrome) that can result in epistaxis, gastrointestinal bleeding from mucocutaneous telangiectasias, and arteriovenous malformations. Germline pathogenic variants in the PTEN gene cause overlapping clinical phenotypes (known as the PTEN hamartoma tumor syndromes), including Cowden's syndrome and related disorders that are associated with an increased risk of gastrointestinal and colonic polyposis, colon cancer, and other extraintestinal manifestations and cancers. Due to the relative rarity of the hamartomatous polyposis syndromes, recommendations for management are based on few studies. This U.S Multi-Society Task Force on Colorectal Cancer consensus statement summarizes the clinical features, assesses the current literature, and provides guidance for diagnosis, assessment, and management of patients with the hamartomatous polyposis syndromes, with a focus on endoscopic management.
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Affiliation(s)
- C Richard Boland
- Division of Gastroenterology, University of California-San Diego School of Medicine, San Diego, California
| | - Gregory E Idos
- Divisions of Gastroenterology and Clinical Cancer Genomics, Center for Precision Medicine, City of Hope National Medical Center, Duarte, California
| | - Carol Durno
- The Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada; Division of Gastroenterology, Hepatology and Nutrition, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
| | - Francis M Giardiello
- Division of Gastroenterology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland
| | - Joseph C Anderson
- Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire; University of Connecticut, Farmington, Connecticut
| | - Carol A Burke
- Department of Gastroenterology, Hepatology and Nutrition, Cleveland Clinic, Cleveland, Ohio
| | - Jason A Dominitz
- Veterans Affairs Puget Sound Health Care System, Seattle, Washington; University of Washington School of Medicine, Seattle, Washington
| | - Seth Gross
- Division of Gastroenterology and Hepatology, New York University Langone Health, New York, New York
| | - Samir Gupta
- Veterans Affairs Medical Center, San Diego, California; University of California San Diego, La Jolla, California; Veterans Affairs San Diego Healthcare System, San Diego, California
| | - Brian C Jacobson
- Division of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts
| | - Swati G Patel
- University of Colorado School of Medicine, Rocky Mountain Regional Veterans Affairs Medical Center, Aurora, Colorado
| | - Aasma Shaukat
- Minneapolis Veterans Affairs Health Care System, Minneapolis, Minnesota; University of Minnesota, Minneapolis, Minnesota
| | - Sapna Syngal
- Brigham and Women's Hospital, Boston Massachusetts; Dana-Farber Cancer Institute, Boston Massachusetts; Harvard Medical School, Boston Massachusetts
| | - Douglas J Robertson
- Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire
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Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc 2022; 95:1025-1047. [PMID: 35487765 DOI: 10.1016/j.gie.2022.02.044] [Citation(s) in RCA: 7] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. The best understood hamartomatous polyposis syndrome is Peutz-Jeghers syndrome, caused by germline pathogenic variants in the STK11 gene. The management is focused on prevention of bleeding and mechanical obstruction of the small bowel by polyps and surveillance of organs at increased risk for cancer. Juvenile polyposis syndrome is caused by a germline pathogenic variant in either the SMAD4 or BMPR1A genes, with differing clinical courses. Patients with SMAD4 pathogenic variants may have massive gastric polyposis, which can result in gastrointestinal bleeding and/or protein-losing gastropathy. Patients with SMAD4 mutations usually have the simultaneous occurrence of hereditary hemorrhagic telangiectasia (juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia overlap syndrome) that can result in epistaxis, gastrointestinal bleeding from mucocutaneous telangiectasias, and arteriovenous malformations. Germline pathogenic variants in the PTEN gene cause overlapping clinical phenotypes (known as the PTEN hamartoma tumor syndromes), including Cowden's syndrome and related disorders that are associated with an increased risk of gastrointestinal and colonic polyposis, colon cancer, and other extraintestinal manifestations and cancers. Due to the relative rarity of the hamartomatous polyposis syndromes, recommendations for management are based on few studies. This U.S. Multi-Society Task Force on Colorectal Cancer consensus statement summarizes the clinical features, assesses the current literature, and provides guidance for diagnosis, assessment, and management of patients with the hamartomatous polyposis syndromes, with a focus on endoscopic management.
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Affiliation(s)
- C Richard Boland
- Division of Gastroenterology, University of California-San Diego School of Medicine, San Diego, California.
| | - Gregory E Idos
- Divisions of Gastroenterology and Clinical Cancer Genomics, Center for Precision Medicine, City of Hope National Medical Center, Duarte, California
| | - Carol Durno
- The Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada; Division of Gastroenterology, Hepatology and Nutrition, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
| | - Francis M Giardiello
- Division of Gastroenterology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland
| | - Joseph C Anderson
- Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire; University of Connecticut, Farmington, Connecticut
| | - Carol A Burke
- Department of Gastroenterology, Hepatology and Nutrition, Cleveland Clinic, Cleveland, Ohio
| | - Jason A Dominitz
- Veterans Affairs Puget Sound Health Care System, Seattle, Washington; University of Washington School of Medicine, Seattle, Washington
| | - Seth Gross
- Division of Gastroenterology and Hepatology, New York University Langone Health, New York, New York
| | - Samir Gupta
- Veterans Affairs Medical Center, San Diego, California; University of California San Diego, La Jolla, California; Veterans Affairs San Diego Healthcare System, San Diego, California
| | - Brian C Jacobson
- Division of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts
| | - Swati G Patel
- University of Colorado School of Medicine, Rocky Mountain Regional Veterans Affairs Medical Center, Aurora, Colorado
| | - Aasma Shaukat
- Minneapolis Veterans Affairs Health Care System, Minneapolis, Minnesota; University of Minnesota, Minneapolis, Minnesota
| | - Sapna Syngal
- Brigham and Women's Hospital, Boston Massachusetts; Dana-Farber Cancer Institute, Boston Massachusetts; Harvard Medical School, Boston Massachusetts
| | - Douglas J Robertson
- Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire
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Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol 2022; 117:846-864. [PMID: 35471415 DOI: 10.14309/ajg.0000000000001755] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/23/2022] [Accepted: 03/24/2022] [Indexed: 12/11/2022]
Abstract
The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. The best understood hamartomatous polyposis syndrome is Peutz-Jeghers syndrome, caused by germline pathogenic variants in the STK11 gene. The management is focused on prevention of bleeding and mechanical obstruction of the small bowel by polyps and surveillance of organs at increased risk for cancer. Juvenile polyposis syndrome is caused by a germline pathogenic variant in either the SMAD4 or BMPR1A genes, with differing clinical courses. Patients with SMAD4 pathogenic variants may have massive gastric polyposis, which can result in gastrointestinal bleeding and/or protein-losing gastropathy. Patients with SMAD4 mutations usually have the simultaneous occurrence of hereditary hemorrhagic telangiectasia (juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia overlap syndrome) that can result in epistaxis, gastrointestinal bleeding from mucocutaneous telangiectasias, and arteriovenous malformations. Germline pathogenic variants in the PTEN gene cause overlapping clinical phenotypes (known as the PTEN hamartoma tumor syndromes), including Cowden's syndrome and related disorders that are associated with an increased risk of gastrointestinal and colonic polyposis, colon cancer, and other extraintestinal manifestations and cancers. Due to the relative rarity of the hamartomatous polyposis syndromes, recommendations for management are based on few studies. This US Multi-Society Task Force on Colorectal Cancer consensus statement summarizes the clinical features, assesses the current literature, and provides guidance for diagnosis, assessment, and management of patients with the hamartomatous polyposis syndromes, with a focus on endoscopic management.
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Hampel H, Kalady MF, Pearlman R, Stanich PP. Hereditary Colorectal Cancer. Hematol Oncol Clin North Am 2022; 36:429-447. [DOI: 10.1016/j.hoc.2022.02.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
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Latchford AR, Clark SK. Gastrointestinal aspects of Peutz-Jeghers syndrome. Best Pract Res Clin Gastroenterol 2022; 58-59:101789. [PMID: 35988959 DOI: 10.1016/j.bpg.2022.101789] [Citation(s) in RCA: 11] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/28/2022] [Accepted: 03/08/2022] [Indexed: 01/31/2023]
Abstract
There are two main problems in the clinical management of the gastrointestinal (GI) tract in patients with Peutz-Jeghers syndrome (PJS), namely long-term cancer risk and managing polyp related complications (of which the most important clinically is intussusception). Given the rarity of this condition, the evidence base upon which to make recommendations is small. Furthermore, controversies persist regarding the relationship between PJ polyps, cancer development and cancer risk. In this article we will explore some of these controversies, to put into context the recommendations for clinical management of these patients. We will provide an overview, particularly focusing on clinical data, and on the recommendations for clinical management and surveillance of the GI tract in PJS. We highlight knowledge gaps which need to be addressed by further research.
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Affiliation(s)
- A R Latchford
- Polyposis Registry, St Mark's Hospital, Harrow, UK; Department of Surgery and Cancer, Imperial College, London, UK.
| | - S K Clark
- Polyposis Registry, St Mark's Hospital, Harrow, UK; Department of Surgery and Cancer, Imperial College, London, UK
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Klimkowski S, Ibrahim M, Ibarra Rovira JJ, Elshikh M, Javadi S, Klekers AR, Abusaif AA, Moawad AW, Ali K, Elsayes KM. Peutz-Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers. Cancers (Basel) 2021; 13:cancers13205121. [PMID: 34680270 PMCID: PMC8533703 DOI: 10.3390/cancers13205121] [Citation(s) in RCA: 30] [Impact Index Per Article: 7.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/09/2021] [Revised: 10/07/2021] [Accepted: 10/08/2021] [Indexed: 02/03/2023] Open
Abstract
Simple Summary The Peutz-Jeghers Syndrome is a rare autosomal dominant syndrome characterized by mucocutaneous pigmentations, multiple gastrointestinal hamartomatous polyps, and an elevated risk of malignancy. Awareness of various Peutz-Jeghers Syndrome imaging patterns, associated malignancies, and their complications is crucial for accurate imaging interpretation and patient management. In this manuscript, we provide an overview of this condition, associated malignancies, and imaging surveillance protocols. Abstract The Peutz-Jeghers Syndrome (PJS) is an autosomal dominant neoplastic syndrome defined by hamartomatous polyps through the gastrointestinal tract, development of characteristic mucocutaneous pigmentations, and an elevated lifetime cancer risk. The majority of cases are due to a mutation in the STK11 gene located at 19p13.3. The estimated incidence of PJS ranges from 1:50,000 to 1:200,000. PJS carries an elevated risk of malignancies including gastrointestinal, breast, lung, and genitourinary (GU) neoplasms. Patients with PJS are at a 15- to 18-fold increased malignancy risk relative to the general population. Radiologists have an integral role in the diagnosis of these patients. Various imaging modalities are used to screen for malignancies and complications associated with PJS. Awareness of various PJS imaging patterns, associated malignancies, and their complications is crucial for accurate imaging interpretation and patient management. In this manuscript, we provide a comprehensive overview of PJS, associated malignancies, and surveillance protocols.
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Affiliation(s)
- Sergio Klimkowski
- Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA; (J.J.I.R.); (S.J.); (A.R.K.); (A.A.A.)
- Correspondence: (S.K.); (K.M.E.)
| | - Mohamed Ibrahim
- Department of Diagnostic and Interventional Radiology, University of Kansas-Wichita, Wichita, KS 67214, USA; (M.I.); (K.A.)
| | - Juan J. Ibarra Rovira
- Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA; (J.J.I.R.); (S.J.); (A.R.K.); (A.A.A.)
| | - Mohamed Elshikh
- Department of Diagnostic and Interventional Radiology, The University of Texas Medica Branch, Galveston, TX 77555, USA;
| | - Sanaz Javadi
- Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA; (J.J.I.R.); (S.J.); (A.R.K.); (A.A.A.)
| | - Albert R. Klekers
- Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA; (J.J.I.R.); (S.J.); (A.R.K.); (A.A.A.)
| | - Abdelraham A. Abusaif
- Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA; (J.J.I.R.); (S.J.); (A.R.K.); (A.A.A.)
| | - Ahmed W. Moawad
- Department of Diagnostic and Interventional Radiology, Mercy Catholic Health System, Darby, PA 19023, USA;
| | - Kamran Ali
- Department of Diagnostic and Interventional Radiology, University of Kansas-Wichita, Wichita, KS 67214, USA; (M.I.); (K.A.)
| | - Khaled M. Elsayes
- Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, Houston, TX 77555, USA; (J.J.I.R.); (S.J.); (A.R.K.); (A.A.A.)
- Correspondence: (S.K.); (K.M.E.)
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Chiew J, Sambanthan ST, Mahendran HA. Double intussusception in a teenage child with Peutz-Jeghers syndrome: A case report. World J Clin Cases 2021; 9:6804-6809. [PMID: 34447828 PMCID: PMC8362540 DOI: 10.12998/wjcc.v9.i23.6804] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/15/2021] [Revised: 03/14/2021] [Accepted: 05/15/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Peutz-Jeghers syndrome (PJS) is a genetic disorder characterized by the development of gastrointestinal hamartomatous polyps and mucocutaneous melanin pigmentation. Patients with PJS are at risk of complications such as intussusception. Intussusception is a condition where one segment of the intestine invaginates into another, causing intestinal obstruction. We report a PJS patient who was diagnosed with double intussusception in a single setting.
CASE SUMMARY A 16-year-old teenage male PJS patient presented with a history of colicky abdominal pain, vomiting, blood in stools, loss of appetite, and weight loss. On abdominal examination, a vague mass was palpable over the right upper quadrant. Contrast-enhanced computed tomography (CT) of the abdomen was performed and an intussusception involving the jejunum and rectosigmoid junction was observed. The patient subsequently underwent a laparotomy and intussusception involving the jejunum and another over the ileum was noted intra-operatively. Bowel resection and an endoscopic polypectomy were performed, followed by a primary anastomosis. The patient was discharged well and reviewed again one month later, and was noted to be well.
CONCLUSION PJS patients have a high risk of intussusception and can be diagnosed accurately by endoscopic surveillance or radiologically with abdominal CT or magnetic resonance imaging. The mainstay of treatment is surgical intervention followed by endoscopic surveillance with periodic polypectomy.
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Affiliation(s)
- Junloong Chiew
- Department of Surgery, Hospital Sultanah Aminah, Johor Bahru 80100, Malaysia
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Abstract
AbstractA case of diagnostic difficulty facing the patient with colonic polyposis secondary to Peutz–Jeghers syndrome, but without family history and pathognomonic clinical features of the disease, is illustrated. The exams, including biopsy, led to diagnostic uncertainty and the definitive diagnosis was characterized in therapeutic of exception.
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Kirakosyan E, Lokhmatov M. High-Tech Diagnostic Methods and Enteroscopic Treatment of Children with Peutz-Jeghers Syndrome. Eur J Pediatr Surg 2020; 30:529-535. [PMID: 31770782 DOI: 10.1055/s-0039-3400286] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
INTRODUCTION Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary hamartomatous polyposis with predominant localization in the jejunum and ileum and high risk of bowel perforation after traditional polypectomy. The modern enteroscopy is the only possible technique for visualizing and performing intraluminal endoscopic microsurgical manipulations in the deep sections of the small intestine. The study aims to develop an optimal method for the diagnosis and treatment of polyps in children with PJS. MATERIALS AND METHODS During 2015 to 2018 we conducted 30 comprehensive examinations of children with PJS in The Department of Endoscopic Research of the National Medical Research Center for Children's Health. We performed esophagogastroduodenoscopy and colonoscopy with removal of polyps more than 7 mm, then video capsule endoscopy and, guided by this, therapeutic single-balloon enteroscopy. Our technique for removal of polyps is general in all parts: (1) creating a "resistant pillow"; (2) electroexcision of polyp; (3) clipping the removal site. RESULTS Successfully performed electroexcision of polyps, which were located in the deep parts of the small intestine at a distance of 30 segments (one segment is 10 cm), reached a diameter of 2.5 cm, had a long pedicle. The postoperative period was uneventful. CONCLUSION We have developed an optimal method of diagnostic and therapeutic measures, the observance of which allows us to avoid delayed perforations of the small intestine in the area of polypectomy in the postoperative period in children with PJS. Thanks to this technique, modern enteroscopy is becoming the only possible alternative to bowel resection in children with PJS.
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Affiliation(s)
- Evgeniya Kirakosyan
- International School "Medicine of the Future", Sechenov University Faculty of Medicine, Moscow, Russia
| | - Maxim Lokhmatov
- Department of Pediatric Surgery and Urology-Andrology, Sechenov University, Moscow, Russia.,Department of Endoscopic Research, Scientific Center of Children's Health, Moscow, Russia
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Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut 2020; 69:411-444. [PMID: 31780574 PMCID: PMC7034349 DOI: 10.1136/gutjnl-2019-319915] [Citation(s) in RCA: 290] [Impact Index Per Article: 58.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/20/2019] [Revised: 10/25/2019] [Accepted: 11/05/2019] [Indexed: 12/12/2022]
Abstract
Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual's lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.
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Affiliation(s)
- Kevin J Monahan
- Family Cancer Clinic, St Mark's Hospital, London, UK
- Faculty of Medicine, Imperial College, London, UK
| | - Nicola Bradshaw
- Clinical Genetics, West of Scotland Genetics Services, Glasgow, Glasgow, UK
| | - Sunil Dolwani
- Gastroenterology, Cardiff and Vale NHS Trust, Cardiff, UK
| | - Bianca Desouza
- Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK
| | | | - James E East
- Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK
- Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
| | - Mohammad Ilyas
- Faculty of Medicine & Health Sciences, Nottingham University, Nottingham, UK
| | - Asha Kaur
- Head of Policy and Campaigns, Bowel Cancer UK, London, UK
| | - Fiona Lalloo
- Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK
| | | | - Matthew D Rutter
- Gastroenterology, University Hospital of North Tees, Stockton-on-Tees, UK
- Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK
| | - Ian Tomlinson
- Nuffield Department of Clinical Medicine, Wellcome Trust Centre for Human Genetics, Birmingham, UK
- Cancer Research Centre, University of Edinburgh, Edinburgh, UK
| | - Huw J W Thomas
- Family Cancer Clinic, St Mark's Hospital, London, UK
- Faculty of Medicine, Imperial College, London, UK
| | - James Hill
- Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK
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Li BR, Sun T, Jiang YL, Ning SB. Pathogenesis, diagnosis, and treatment of Peutz-Jeghers syndrome. Shijie Huaren Xiaohua Zazhi 2019; 27:576-582. [DOI: 10.11569/wcjd.v27.i9.576] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
Peutz-Jeghers syndrome (PJS), an autosomal dominant inherited disease, is caused by germinal mutations of the STK11. It is characterized by gastrointestinal hamartomas, mucocutaneous pigmentation and increased cancer risk. Germline mutations in STK11 cause a harmful effect on cell apoptosis, G1 arrest, and cell polarization, which leads to polyp formation and cancer occurrence. Balloon-assisted enteroscopy is widely used in removal of PJS polyps in the small bowel and it is proved to be safe and effective. We suggest to screen polyps and cancer in PJS patients, which seems to benefit these patients in the long run.
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Affiliation(s)
- Bai-Rong Li
- Department of Gastroenterology, Chinese People's Liberation Army Air Force Characteristic Medical Center, Beijing 100142, China
| | - Tao Sun
- Department of Gastroenterology, Chinese People's Liberation Army Air Force Characteristic Medical Center, Beijing 100142, China
| | - Yu-Liang Jiang
- Department of Gastroenterology, Chinese People's Liberation Army Air Force Characteristic Medical Center, Beijing 100142, China
| | - Shou-Bin Ning
- Department of Gastroenterology, Chinese People's Liberation Army Air Force Characteristic Medical Center, Beijing 100142, China
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Effectiveness of Double-balloon Enteroscopy-facilitated Polypectomy in Pediatric Patients With Peutz-Jeghers Syndrome. J Pediatr Gastroenterol Nutr 2017; 65:500-502. [PMID: 28319601 DOI: 10.1097/mpg.0000000000001576] [Citation(s) in RCA: 19] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
Sizable small-bowel (SB) polyps in Peutz-Jeghers syndrome (PJS) pose a high risk for intussusception, often necessitating laparotomy and intraoperative enteroscopy. This series examines the effectiveness of double-balloon enteroscopy (DBE) facilitated polypectomy for pediatric patients with PJS. Prospective analysis of collected data (6 years) on all patients with PJS referred for DBE-facilitated SB polypectomy at a pediatric tertiary-referral center. A total of 16 pediatric patients with PJS were referred for DBE-facilitated SB polypectomy. Twenty-two DBEs were performed. Large polyps (≥1 cm) were confirmed in 14 patients. Successful clearance of large SB polyps by DBE or laparoscopically assisted DBE (Lap-DBE) was achieved in all patients. One patient experienced post-Lap-DBE pelvic abscess. All other patients remained asymptomatic and intervention free throughout follow-up (median 26 months). This series demonstrates that DBE-facilitated polypectomy is an effective therapeutic option in pediatric patients with PJS. It should be considered at an early age where possible.
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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
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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
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Hawkins AT, Wise PE. Colon cancer in hereditary syndromes. SEMINARS IN COLON AND RECTAL SURGERY 2016. [DOI: 10.1053/j.scrs.2016.04.021] [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]
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Abstract
While most colorectal cancers (CRCs) originate from nonhereditary spontaneous mutations, one-third of cases are familial or hereditary. Hereditary CRCs, which account for < 5% of all CRCs, have identifiable germline mutations and phenotypes, such as Lynch syndrome and familial adenomatous polyposis (FAP). Familial CRCs, which account for up to 30% of CRCs, have no identifiable germline mutation or specific pattern of inheritance, but higher-than-expected incidence within a family. Since the discovery that certain genotypes can lead to development of CRC, thousands of mutations have now been implicated in CRC. These new findings have enhanced our ability to identify at-risk patients, initiate better surveillance, and take preventative measures. Given the large number of genes now associated with hereditary and familial CRCs, clinicians should be familiar with the alphabet soup of genes to provide the highest quality of care for patients and families.
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Affiliation(s)
- Matthew D Giglia
- Division of Gastrointestinal Surgery, University of Alabama at Birmingham, Birmingham, Alabama
| | - Daniel I Chu
- Division of Gastrointestinal Surgery, University of Alabama at Birmingham, Birmingham, Alabama
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Wang R, Qi X, Liu X, Guo X. Peutz-Jeghers syndrome: Four cases in one family. Intractable Rare Dis Res 2016; 5:42-43. [PMID: 26989648 PMCID: PMC4761583 DOI: 10.5582/irdr.2015.01036] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/12/2015] [Revised: 10/28/2015] [Accepted: 11/09/2015] [Indexed: 02/07/2023] Open
Abstract
Peutz-Jeghers syndrome (PJS) is a rare, but life-threatening, familial inherited disease, characterized by mucocutaneous pigmentation and hamartomatous polyps. The estimated incidence of PJS ranges from 1/50,000 to 1/200,000. PJS can significantly increase the risk of malignancies, and especially gastrointestinal malignancies. Reported here are 4 cases of PJS in one family.
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Affiliation(s)
- Ran Wang
- Department of Gastroenterology, General Hospital of the Shenyang Military Area, Shenyang, China
- Postgraduate College, Liaoning University of Traditional Chinese Medicine, Shenyang, China
| | - Xingshun Qi
- Department of Gastroenterology, General Hospital of the Shenyang Military Area, Shenyang, China
| | - Xu Liu
- Department of Gastroenterology, General Hospital of the Shenyang Military Area, Shenyang, China
| | - Xiaozhong Guo
- Department of Gastroenterology, General Hospital of the Shenyang Military Area, Shenyang, China
- Postgraduate College, Liaoning University of Traditional Chinese Medicine, Shenyang, China
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Macaron C, Leach BH, Burke CA. Hereditary colorectal cancer syndromes and genetic testing. J Surg Oncol 2014; 111:103-11. [PMID: 24975382 DOI: 10.1002/jso.23706] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/08/2014] [Accepted: 05/24/2014] [Indexed: 12/15/2022]
Abstract
Colorectal cancer (CRC) is a leading cause of cancer and cancer deaths in the Western world. Approximately 5-10% of CRC are hereditary, due to a defined genetic cause. Individuals and families affected with a hereditary CRC syndrome exhibit benign and malignant extra-intestinal tumors, require aggressive cancer screening and benefit from management by a multi-disciplinary team of professionals. The clinical manifestations, genetic causes and current management of patients with hereditary colon cancer syndrome is provided.
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Affiliation(s)
- Carole Macaron
- Department of Gastroenterology and Hepatology, The Cleveland Clinic, Cleveland, Ohio
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Chae HD, Jeon CH. Peutz-Jeghers syndrome with germline mutation of STK11. Ann Surg Treat Res 2014; 86:325-30. [PMID: 24949325 PMCID: PMC4062448 DOI: 10.4174/astr.2014.86.6.325] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/30/2013] [Revised: 11/01/2013] [Accepted: 11/06/2013] [Indexed: 02/08/2023] Open
Abstract
Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous polyps, primarily in the small intestine. Although extremely rare, the small bowel should be fully examined to be certain additional intussusceptions are not present. Herein, we report on a case of PJS with germline mutation of STK11 in a 12-year-old young girl who presented as a rare case of two small intestinal intussusceptions and review the literature.
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Affiliation(s)
- Hyun-Dong Chae
- Department of Surgery, Catholic University of Daegu School of Medicine, Daegu, Korea
| | - Chang-Ho Jeon
- Department of Laboratory Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea
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Rahman I, Patel P, Rondonotti E, Koulaouzidis A, Pennazio M, Kalla R, Sidhu R, Mooney P, Sanders D, Despott EJ, Fraser C, Kurniawan N, Baltes P, Keuchel M, Davison C, Beejay N, Parker C, Panter S. Small Bowel Capsule Endoscopy. HANDBOOK OF CAPSULE ENDOSCOPY 2014:47-118. [DOI: 10.1007/978-94-017-9229-5_3] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/05/2025]
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Abstract
BACKGROUND AND AIMS We reviewed our institution's experience with Peutz-Jegher syndrome (PJS) in children to determine whether current recommendations on timing of screening and follow-up should be modified. METHODS We reviewed the charts of all of the children with a diagnosis of PJS at our institution from 2000 to 2011 abstracting data on intussusceptions events, polyp characteristics, Sertoli cell (SC) tumors, family history, imaging, and interventions. RESULTS Of 14 children identified, 10 were boys. Median age at first clinical evaluation was 4.5 years, and family history and/or mucocutaneous pigmentation were the 2 most common factors stimulating screening. Median age at first screening test was 5 years (range 1-16), and at first polyp identification, 5 years (range 1 to 18). There were 7 intussusception events in 5 children, with median age of 10 and range 5 to 16 for first event. Two boys had SC tumors at 8 and 11 years. Polyps were identified during initial screening in 9 of 14 patients. Polyps were found in the stomach or duodenum in 5 (36%), small bowel in 7, (50%) and colon in 3 (21%) children. Large polyps were identified in 9 children at median age of 7 years. CONCLUSIONS Polyps causing significant clinical consequences can occur frequently in children with PJS younger than 8 years. Revised guidelines should consider initial screening at age 4 to 5 with capsule endoscopy and upper and lower endoscopy as well as evaluation for SC tumors and re-evaluation whenever symptoms suggest polyp-associated complications.
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Sekmenli T, Afşarlar ÇE, Bakır Ş. An Unusual Presentation of Peutz-Jeghers Syndrome: A Case of Recurrent Jejunal Intussusception. ELECTRONIC JOURNAL OF GENERAL MEDICINE 2012. [DOI: 10.29333/ejgm/82555] [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]
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Abstract
The two main problems in the management of the gastrointestinal tract in patients with Peutz-Jeghers syndrome (PJS) are the long term cancer risk and managing polyp related complications, such as intussusception and bleeding. In this article we will focus mainly on the clinical management of these problems. We will highlight some of the controversies regarding gastrointestinal PJS polyps, cancer development and cancer risk. We will review the available literature, particularly focusing on clinical data, to provide insights into these controversies. We describe guidelines for the surveillance and management of gastrointestinal polyps in PJS and review the data behind current recommendations.
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Clinical presentations and surgical approach of acute intussusception caused by Peutz-Jeghers syndrome in adults. J Gastrointest Surg 2011; 15:2218-25. [PMID: 22005897 DOI: 10.1007/s11605-011-1724-2] [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] [Received: 07/06/2011] [Accepted: 09/30/2011] [Indexed: 02/05/2023]
Abstract
INTRODUCTION Peutz-Jeghers syndrome is a rare autosomal dominantly inherited disease characterized by mucocutaneous pigmentations and gastrointestinal polyps. The polyps are located predominantly in the small intestine and usually cause intussusceptions. Adult intussusception caused by Peutz-Jeghers syndrome occurs very rarely. The purpose of this study was to analyze the clinical characteristics, preoperative diagnosis, and surgical management of Peutz-Jeghers syndrome associated with acute intussusception in adult patients. DISCUSSION Consecutive patients with the postoperative diagnosis of acute intussusception caused by Peutz-Jeghers syndrome from 1995 to 2010 were reviewed retrospectively for this study. Data concerning clinical considerations, morphological examinations, and surgical procedure were analyzed. Different clinical manifestations were presented in patients with intussusception due to Peutz-Jeghers syndrome. Computed tomography associated or not with ultrasonography may be the most accurate examination for acute intussusceptions caused by Peutz-Jeghers syndrome. Surgical intervention is the first choice regimen in acute intussusceptions caused by Peutz-Jeghers syndrome. Prophylaxis and polypectomy of the entire small bowel is a worthy way in Peutz-Jeghers syndrome patients to reduce the frequency of laparotomies.
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Peutz-Jeghers syndrome: intriguing suggestion of gastrointestinal cancer prevention from surveillance. Dis Colon Rectum 2011; 54:1547-51. [PMID: 22067184 DOI: 10.1097/dcr.0b013e318233a11f] [Citation(s) in RCA: 52] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Abstract
BACKGROUND Peutz-Jeghers syndrome is characterized by GI polyps and mucocutaneous pigmentation and carries an increased risk of GI cancer. GI polyps may bleed or cause intussusception. Luminal GI surveillance is recommended, but there are few data detailing outcomes from GI surveillance in Peutz-Jeghers syndrome. OBJECTIVE This study aimed to assess outcomes from GI surveillance in patients with Peutz-Jeghers syndrome. DESIGN This study is a retrospective review, using hospital and registry notes and endoscopy and histology reports. SETTING The investigation was conducted at a tertiary referral center. PATIENTS All patients with Peutz-Jeghers syndrome who were followed up at St Mark's hospital were included. MAIN OUTCOME MEASURES The primary outcomes measured were surveillance procedures performed, complications, and long-term outcomes. RESULTS Sixty-three patients from 48 pedigrees were included; the median age when patients were first seen was 20 years (range, 3-59). Only baseline investigations were performed in 12 patients. The remaining patients were followed up for 683 patient years, a median of 10 years (range, 2-41). Seven hundred seventy-six procedures were performed to assess the GI tract. These led to 5 double-balloon enteroscopies, 1 push enteroscopy, and 71 surgical procedures. Of the surgical procedures, 20 were performed as a result of baseline investigations, 12 arose from investigations of symptoms, and 39 were due to surveillance of asymptomatic patients. No emergency surgical interventions were performed. No luminal GI cancers were diagnosed. Of the 2461 polypectomies performed, 6 polyps contained atypia or dysplasia. Six complications arose from endoscopy or surgical intervention, requiring 5 laparotomies to manage these complications. CONCLUSION GI surveillance in Peutz-Jeghers syndrome is relatively safe and avoids the need for emergency surgery for small-bowel polyps. The lack of GI cancers may reflect that surveillance and polypectomy have prevented cancer from developing, although the detection of neoplasia or dysplasia is uncommon.
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Abstract
Patients with Peutz-Jeghers syndrome (PJS) require lifelong multidisciplinary care for gastrointestinal polyposis and increased risk of cancer. Their long-term morbidities and causes of mortality are unknown. Patients with a definitive diagnosis of PJS (n = 54) were retrospectively reviewed for disease course and outcome. Operative details, pathology and complications were noted for those treated surgically (n = 33). Median follow-up was 7.0 years (interquartile range: 2-20). Two malignancies were found intra-operatively (duodenal and rectal adenocarcinoma). In the long-term, 42% underwent additional operations; 1 patient developed short bowel syndrome, while another, chronic partial bowel obstruction and pain. Twenty-one additional cancers were treated in 19 patients: gynecologic (11), lung (3), and prostate (2) being the most common. 16 patients (30%) were deceased, at a median age of 51 years. The cause of death was unknown in 4 patients, but was due exclusively to malignancies in all other patients, most commonly due to metastatic gynecologic cancer (5). The overall survival of PJS patients was significantly shorter than the expected survival of an age-and gender-matched reference population (P < 0.001). Given the morbidities associated with repeated operations and the risk for cancer-related mortality in the long-term, efforts should focus on minimizing the need for surgical intervention and optimizing cancer detection, treatment and prevention.
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Radical endoscopic polypectomy combined with double-balloon enteroscopy and colonoscopy for Peutz-Jeghers syndrome. J Pediatr Gastroenterol Nutr 2010; 51:370-2. [PMID: 20601900 DOI: 10.1097/mpg.0b013e3181de836d] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/29/2022]
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Anaya DA, Chang GJ, Rodriguez-Bigas MA. Extracolonic manifestations of hereditary colorectal cancer syndromes. Clin Colon Rectal Surg 2010; 21:263-72. [PMID: 20011437 DOI: 10.1055/s-0028-1089941] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/14/2022]
Abstract
Familial colorectal adenocarcinoma (CRC) accounts for approximately 15 to 20% of CRC. Of these, hereditary nonpolyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP) represent the most common hereditary syndromes associated with CRC, followed by other less common diseases including juvenile polyposis (JP) and Peutz-Jeghers syndrome (PJS). Extracolonic manifestations are common in each of these syndromes having significant implications for surveillance and management in at-risk individuals. The authors review the most common and clinically relevant extracolonic manifestations for each of these syndromes focusing on incidence, presentation, genotype/phenotype correlations, and management (including surveillance) strategies.
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Affiliation(s)
- Daniel A Anaya
- Department of Surgical Oncology, The University of Texas M D Anderson Cancer Center, Houston, TX 77230, USA
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Tan VKM, Koh PK, Loi CTT, Eu KW, Tang CL. Peutz-Jeghers Syndrome: Data from the Singapore Polyposis Registry and a Shifting Paradigm in Management. ANNALS OF THE ACADEMY OF MEDICINE, SINGAPORE 2010. [DOI: 10.47102/annals-acadmedsg.v39n1p17] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/02/2023]
Abstract
Introduction: Peutz-Jeghers Syndrome (PJS) is an uncommon autosomal dominant hamartomatous polyposis syndrome. Morbidity arises from polyp-related complications and increased risks of malignancy. We report on PJS patients registered in the Singapore Polyposis Registry, identified principal causes of morbidity and appraised current management strategies. A follow-up protocol based on recent literature has been proposed. Materials and Methods: A search of a prospectively collected database in the Singapore Polyposis Registry was made. Only patients who fulfilled the diagnostic criteria of PJS were included. The clinical records were retrieved for review. Information on affected family members was obtained from the Registry’s pedigree records. Results: Seven unrelated patients fulfilled the criteria of having PJS. Principal causes of morbidity include recurrent bouts of abdominal colic, episodes of intestinal obstruction, gastrointestinal bleeding and the need for repeated laparotomies. Six out of 7 patients had initial presentation with acute intestinal obstruction requiring emergency laparotomy. Management was mostly problem-oriented and marked inter-surgeon variation with regard to cancer screening and genetic counselling was observed. Conclusion: Patients with PJS suffer gastrointestinal complications from polyposis and are at increased risks for developing cancers. A move towards surveillance and planned comprehensive care may reduce the morbidity of the condition. A protocol driven approach conducted in the setting of a Polyposis Registry is ideally suited to facilitate such care.
Key words: Harmatoma, Intussusception, Polyps, Small bowel
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Kopacova M, Tacheci I, Rejchrt S, Bures J. Peutz-Jeghers syndrome: Diagnostic and therapeutic approach. World J Gastroenterol 2009; 15:5397-408. [PMID: 19916169 PMCID: PMC2778095 DOI: 10.3748/wjg.15.5397] [Citation(s) in RCA: 126] [Impact Index Per Article: 7.9] [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
Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Prevalence of PJS is estimated from 1 in 8300 to 1 in 280 000 individuals. PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors). Bleeding, obstruction and intussusception are common complications in patients with PJS. Double balloon enteroscopy (DBE) allows examination and treatment of the small bowel. Polypectomy using DBE may obviate the need for repeated urgent operations and small bowel resection that leads to short bowel syndrome. Prophylaxis and polypectomy of the entire small bowel is the gold standard in PJS patients. Intraoperative enteroscopy (IOE) was the only possibility for endoscopic treatment of patients with PJS before the DBE era. Both DBE and IOE facilitate exploration and treatment of the small intestine. DBE is less invasive and more convenient for the patient. Both procedures are generally safe and useful. An overall recommendation for PJS patients includes not only gastrointestinal multiple polyp resolution, but also regular lifelong cancer screening (colonoscopy, upper endoscopy, computed tomography, magnetic resonance imaging or ultrasound of the pancreas, chest X-ray, mammography and pelvic examination with ultrasound in women, and testicular examination in men). Although the incidence of PJS is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in the first-degree relatives of PJS patients.
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McGarrity TJ, Amos C. Less common colorectal cancer predisposition syndromes. Surg Oncol Clin N Am 2009; 18:647-61. [PMID: 19793572 DOI: 10.1016/j.soc.2009.07.005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/20/2022]
Abstract
A variety of syndromes confer increased risk for intestinal polyp development, outside the more commonly occurring syndromes. Each of these uncommon syndromes predispose to pathognomonic histologies that are uncommonly observed. Accurate diagnosis of these syndromes is contingent on higher-level pathology review, evaluation of signs and symptoms beyond sole consideration of the polyps, and collection of a detailed family history. When a genetic mutation can be identified in the proband, the management of intestinal and extra-intestinal cancer screening can be more appropriately tailored.
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Affiliation(s)
- Thomas J McGarrity
- Department of Medicine, Penn State Hershey Medical Center, Hershey, PA 17033-0850, USA.
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Abstract
BACKGROUND Peutz-Jeghers syndrome (PJS) is an autosomal dominant syndrome with an increased risk of polyposis complications and intestinal and extraintestinal tumours. METHODS During the last 15 years, we reviewed a series of 11 children with PJS, with special attention to evolution and follow-up. Diagnosis was based on at least 1 hamartomatous polyp associated with 2 of the 3 following criteria: family record of PJS, polyposis localised on small bowel, and mucocutaneous pigmentation. Diagnosis of PJS also could be raised by a single genetic analysis of STK11 gene. RESULTS Median age at beginning of symptoms was 6 years old. Seven of the 11 children had genetic tests, which were positive for STK11 gene mutation. Among the 10 children presenting with gastrointestinal complications, 8 were operated on, 6 had at least 1 small bowel resection, and 4 had repeat surgery for recurrent intussusceptions. In case of complications leading to a surgical procedure, we performed intraoperative enteroscopy to remove all large polyps. To prevent any polyposis complications, we suggest a complete check-up of polyposis topography with some of the new endoscopic tools, either double-balloon endoscopy or videocapsule endoscopy. CONCLUSIONS Children with PJS have a high risk of numerous laparotomies due to polyps' complications. Therefore, a screening of intestinal polyposis by videocapsule endoscopy is recommended, as well as a screening of the most frequent sites of cancers for the patient's whole life. During any abdominal procedure, they should have an intraoperative endoscopy, this management allowing an increased time interval between 2 laparotomies.
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Rufener SL, Koujok K, McKenna BJ, Walsh M. Small bowel intussusception secondary to Peutz-Jeghers polyp. Radiographics 2008; 28:284-8. [PMID: 18203944 DOI: 10.1148/rg.281075092] [Citation(s) in RCA: 24] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/01/2023]
Affiliation(s)
- Stephanie L Rufener
- Department of Radiology, University of Michigan Health System, 1500 East Medical Center Dr, Ann Arbor, MI 48109, USA.
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