Volume 120, Issue 1, Pages (January 2001)

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Volume 120, Issue 1, Pages 210-215 (January 2001) Familial gastrointestinal stromal tumor with hyperpigmentation: Association with a germline mutation of the c-kit gene Hironobu Maeyama, Eiko Hidaka, Hiroyoshi Ota, Satoshi Minami, Masashi Kajiyama, Akira Kuraishi, Hiromitsu Mori, Yoshiaki Matsuda, Shuichi Wada, Harutsugu Sodeyama, Shinji Nakata, Nobuyuki Kawamura, Satoru Hata, Masahide Watanabe, Yoshihiro Iijima, Tsutomu Katsuyama Gastroenterology Volume 120, Issue 1, Pages 210-215 (January 2001) DOI: 10.1053/gast.2001.20880 Copyright © 2001 American Gastroenterological Association Terms and Conditions

Fig. 1 Pedigree of the family with GISTs and/or cutaneous hyperpigmentation. Hatched symbols indicate family members with cutaneous hyperpigmentation. Double circles denote multiple GISTs. Squares, males; circles, females; symbols with a heavy diagonal line indicate deceased patients. Numbers below the symbols indicate patients on which genetic examination could be performed. Gastroenterology 2001 120, 210-215DOI: (10.1053/gast.2001.20880) Copyright © 2001 American Gastroenterological Association Terms and Conditions

Fig. 2 Abdominal CT of patient 1 showing a left upper abdominal tumor with an irregular low-density area. Gastroenterology 2001 120, 210-215DOI: (10.1053/gast.2001.20880) Copyright © 2001 American Gastroenterological Association Terms and Conditions

Fig. 3 Cutaneous hyperpigmentation and nevi on the (A) face and neck and (B) hand of patient 2. Gastroenterology 2001 120, 210-215DOI: (10.1053/gast.2001.20880) Copyright © 2001 American Gastroenterological Association Terms and Conditions

Fig. 4 Upper gastrointestinal series of patient 2 showing a submucosal tumor with deep ulceration in the greater curvature of the gastric body. Gastroenterology 2001 120, 210-215DOI: (10.1053/gast.2001.20880) Copyright © 2001 American Gastroenterological Association Terms and Conditions

Fig. 5 Abdominal CT of patient 2 showing a tumor (containing a low-density area and gas shadow, and situated in the left upper abdomen) resembling that of patient 1. Gastroenterology 2001 120, 210-215DOI: (10.1053/gast.2001.20880) Copyright © 2001 American Gastroenterological Association Terms and Conditions

Fig. 6 Microscopic findings of the intestinal tumor resected at the first surgery in patient 2 (A; H&E staining, 80×). Immunohistochemically, some tumor cells expressed (B) CD 34 and (C) KIT protein, suggesting GIST. Gastroenterology 2001 120, 210-215DOI: (10.1053/gast.2001.20880) Copyright © 2001 American Gastroenterological Association Terms and Conditions

Fig. 7 Direct sequence traces of wild and mutant alleles in exon 11 of c-kit. (A) In the mutated sequence, a point mutation (GTT→GCT) at codon 559 coexisted with the wild-type sequence. (B) Cases without mutation showed only the wild-allele sequence in exon 11 of c-kit. Gastroenterology 2001 120, 210-215DOI: (10.1053/gast.2001.20880) Copyright © 2001 American Gastroenterological Association Terms and Conditions