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PEUTZ‐JEGHERS SYNDROME ASSOCIATED WITH RENAL AND GASTRIC CANCER THAT DEMONSTRATED AN STK11 MISSENSE MUTATION
Author(s) -
Kataoka Hiromi,
Joh Takashi,
Inoue Yusuke,
Ogasawara Naotaka,
Oshima Tadayuki,
Tanida Satoshi,
Sasaki Makoto,
Nakao Haruhisa,
Nakazawa Takahiro,
Ohara Hirotaka
Publication year - 2006
Publication title -
digestive endoscopy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.5
H-Index - 56
eISSN - 1443-1661
pISSN - 0915-5635
DOI - 10.1111/j.1443-1661.2006.00665.x
Subject(s) - stk11 , medicine , peutz–jeghers syndrome , missense mutation , gastroenterology , duodenum , gastrectomy , duodenal cancer , jejunum , stomach , esophagogastroduodenoscopy , cancer , pathology , endoscopy , colorectal cancer , mutation , gene , kras , biochemistry , chemistry
A 75‐year‐old male was admitted to the gastroenterology unit of Nagoya City University Hospital due to epigastralgia after surgical treatment for right renal cancer. Endoscopy revealed advanced type 1 gastric cancer in the corpus of the stomach and multiple polypoid lesions in the stomach and duodenum. X‐ray examination of the small intestine using barium showed multiple polyps in the upper jejunum. Faint pigmentation on the palm was also detected. Peutz‐Jeghers syndrome (PJS) was diagnosed, despite a lack of family history. Total gastrectomy, resection of part of the upper jejunum and intraoperative endoscopic polypectomy of duodenal polyps was performed. This is the second reported case of PJS associated with renal cancer. We also detected a missense mutation in the tumor suppressor gene STK11 that, when mutated, is causative for PJS.