JOURNAL OF FAMILIAL TUMORS
Online ISSN : 2189-6674
Print ISSN : 1346-1052
Case report
Multiple gastrointestinal stromal tumors of the small intestine in a patient with neurofibromatosis type 1: a case report
Yoshiko MoriKunitoshi ShigeyasuTakahiro YoshiokaTakeshi NagasakaJunko HaragaShunsuke KagawaFuminori TeraishiShinichi ToyookaAkira HirasawaToshiyoshi Fujiwara
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JOURNALS OPEN ACCESS

2019 Volume 19 Issue 2 Pages 77-82

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Abstract

Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder caused by germline variants in the NF1 tumor suppressor gene characterized by multiple caféau lait spots and cutaneous neurofibromas. Therefore, NF1 predisposes patients to benign and malignant tumor development. We report a 54-year-old NF1 male with multiple gastrointestinal stromal tumors (GIST) in the small intestine. We resected a part of the small intestine with larger tumors, but left the part with small tumors to avoid short bowel syndrome. Histological examination revealed spindle cells with eosinophilic cytoplasm. The tumors were positive for KIT on immunopathological examination. They were smaller than 3.5 cm and their mitotic activity was less than 5/50 in high-power fields. We left 17 GIST that were smaller than 10 mm, but no progression has been detected to date. (<250 words)

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© 2019 The Japanese Society for Familial Tumors
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