Multiple gastrointestinal stromal tumors of the small intestine in a patient with neurofibromatosis type 1: a case report

• Published in: JOURNAL OF FAMILIAL TUMORS Vol. 19; no. 2; pp. 77 - 82
• Main Authors: Shigeyasu, Kunitoshi, Fujiwara, Toshiyoshi, Kagawa, Shunsuke, Hirasawa, Akira, Mori, Yoshiko, Toyooka, Shinichi, Yoshioka, Takahiro, Haraga, Junko, Nagasaka, Takeshi, Teraishi, Fuminori
• Format: Journal Article
• Language: Japanese
• Published: The Japanese Society for Hereditary Tumors 2019; 一般社団法人日本遺伝性腫瘍学会
• Subjects: Neurofibromatosis type 1, von Recklinghausen disease, GIST, NF1; 神経線維腫症1型，von Recklinghausen 病，GIST，NF1
• ISSN: 1346-1052; 2189-6674
• DOI: 10.18976/jsft.19.2_77

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)