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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 (January 2001) DOI: /gast Copyright © 2001 American Gastroenterological Association Terms and Conditions
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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 , DOI: ( /gast ) Copyright © 2001 American Gastroenterological Association Terms and Conditions
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Fig. 2 Abdominal CT of patient 1 showing a left upper abdominal tumor with an irregular low-density area. Gastroenterology , DOI: ( /gast ) Copyright © 2001 American Gastroenterological Association Terms and Conditions
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Fig. 3 Cutaneous hyperpigmentation and nevi on the (A) face and neck and (B) hand of patient 2. Gastroenterology , DOI: ( /gast ) Copyright © 2001 American Gastroenterological Association Terms and Conditions
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Fig. 4 Upper gastrointestinal series of patient 2 showing a submucosal tumor with deep ulceration in the greater curvature of the gastric body. Gastroenterology , DOI: ( /gast ) Copyright © 2001 American Gastroenterological Association Terms and Conditions
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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 , DOI: ( /gast ) Copyright © 2001 American Gastroenterological Association Terms and Conditions
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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 , DOI: ( /gast ) Copyright © 2001 American Gastroenterological Association Terms and Conditions
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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 , DOI: ( /gast ) Copyright © 2001 American Gastroenterological Association Terms and Conditions
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