Journal ArticleDOI
Increased Risk of Cancer in the Peutz–Jeghers Syndrome
Francis M. Giardiello,Steven B. Welsh,Stanley R. Hamilton,G. J. A. Offerhaus,A. M. Gittelsohn,Susan V. Booker,Anne J. Krush,John H. Yardley,Gordon D. Luk +8 more
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TLDR
It is suggested that patients with the Peutz-Jeghers syndrome have an increased risk for the development of cancer at gastrointestinal and nongastrointestinal sites.Abstract:
The Peutz-Jeghers syndrome is an autosomal dominant hereditary disease characterized by hamartomatous polyps of the gastrointestinal tract and by mucocutaneous melanin deposits. The frequency of cancer in this syndrome has not been studied extensively. Therefore, we investigated 31 patients with the Peutz-Jeghers syndrome who were followed from 1973 to 1985. All cases of cancer were verified by histopathological review. Cancer developed in 15 of the 31 patients (48 percent)--gastrointestinal carcinomas in 4, nongastrointestinal carcinomas in 10, and multiple myeloma in 1. In addition, adenomatous polyps of the stomach and colon occurred in three other patients. The cancers were diagnosed when the patients were relatively young, but after the Peutz-Jeghers syndrome had been diagnosed (interval between diagnoses, 25 +/- 20 years; range, 1 to 64). According to relative-risk analysis, the observed development of cancer in the patients with the syndrome was 18 times greater than expected in the general population (P less than 0.0001). Our results suggest that patients with the Peutz-Jeghers syndrome have an increased risk for the development of cancer at gastrointestinal and nongastrointestinal sites.read more
Citations
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International consensus guidelines 2012 for the management of IPMN and MCN of the pancreas
Masao Tanaka,Carlos Fernandez-del Castillo,Volkan Adsay,Suresh T. Chari,Massimo Falconi,Jin-Young Jang,Wataru Kimura,Philippe Lévy,Martha B. Pitman,C. Max Schmidt,Michio Shimizu,Christopher L. Wolfgang,Koji Yamaguchi,Kenji Yamao +13 more
TL;DR: The present guidelines include recent information and recommendations based on the current understanding, and highlight issues that remain controversial and areas where further research is required.
Journal ArticleDOI
A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
Akseli Hemminki,David Markie,Ian Tomlinson,Egle Avizienyte,Stina Roth,Anu Loukola,Graham R. Bignell,William H. Warren,Maria Aminoff,Pia Höglund,H Järvinen,Paula Kristo,Katarina Pelin,Maaret Ridanpää,Reijo Salovaara,T Toro,Walter F. Bodmer,S Olschwang,Anne S. Olsen,Michael R. Stratton,A de la Chapelle,Lauri A. Aaltonen +21 more
TL;DR: The molecular background of the Peutz–Jeghers syndrome, a rare hereditary disease in which there is predisposition to benign and malignant tumours of many organ systems, is investigated and truncating germline mutations in a gene residing on chromosome 19p are identified.
Journal ArticleDOI
Very High Risk of Cancer in Familial Peutz—Jeghers Syndrome
Francis M. Giardiello,Jill D. Brensinger,Anne C. Tersmette,Steven N. Goodman,Gloria M. Petersen,Susan V. Booker,Marcia Cruz-Correa,Johan Offerhaus +7 more
TL;DR: Patients with Peutz-Jeghers syndrome are at very high relative and absolute risk for gastrointestinal and nongastrointestinal cancers.
Journal ArticleDOI
Revisions of international consensus Fukuoka guidelines for the management of IPMN of the pancreas.
Masao Tanaka,Carlos Fernandez-del Castillo,Terumi Kamisawa,Jin-Young Jang,Philippe Lévy,Takao Ohtsuka,Roberto Salvia,Yasuhiro Shimizu,Minoru Tada,Christopher L. Wolfgang +9 more
TL;DR: The working group has revised the guidelines regarding prediction of invasive carcinoma and high-grade dysplasia, surveillance, and postoperative follow-up of IPMN and includes updated information and recommendations based on the current understanding.
References
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Book
Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes
TL;DR: The tenth edition of McKusick's catalogue of human genetic traits and disorders contains a total of 5,710 entries, 869 more than the ninth, and presents information obtained through March 1, 1992.
Journal ArticleDOI
Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance.
Journal Article
Hydrocortisone in severe myocardial infarction. trial conducted by the scientific subcommittee of the scottish society of physicians.
Journal ArticleDOI
Ovarian sex cord tumor with annular tubules. Review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix†
TL;DR: Of the 74 cases that form the basis of this investigation, 27 were associated with the Peutz‐Jeghers syndrome; these tumors were all benign and were typically multifocal, bilateral, very small or even microscopical in size and calcified.
Journal ArticleDOI
Adenomatous and carcinomatous changes in hamartomatous polyps of the small intestine (Peutz-Jeghers syndrome): Report of a case and review of the literature
Karl H. Perzin,Mary F. Bridge +1 more
TL;DR: The authors report the unique case of a patient with the Peutz‐Jeghers (P‐J) syndrome who had multiple small bowel hamartomatous polyps, some of which also showed adenom atous and carcinomatously changes, which is believed to be the first documented case of adenOMatous changes found within a small bowelHamartoma, adenoma, and in situ carcinoma.
Related Papers (5)
A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
Akseli Hemminki,David Markie,Ian Tomlinson,Egle Avizienyte,Stina Roth,Anu Loukola,Graham R. Bignell,William H. Warren,Maria Aminoff,Pia Höglund,H Järvinen,Paula Kristo,Katarina Pelin,Maaret Ridanpää,Reijo Salovaara,T Toro,Walter F. Bodmer,S Olschwang,Anne S. Olsen,Michael R. Stratton,A de la Chapelle,Lauri A. Aaltonen +21 more