Multiple gastrointestinal stromal tumors with novel germline c-kitgene mutation, K642T, at exon 13

Multiple gastrointestinal stromal tumors (GISTs) caused by germline c-kitgene mutations are an extremely rare autosomal dominant disorder. A 57-year-old Japanese woman was referred to a hospital for appetite loss and severe weight loss. She had 2 large abdominal masses around the stomach, which were...

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Bibliographic Details
Published inHuman pathology Vol. 45; no. 4; p. 884
Main Authors Yamanoi, Kazuhiro, Higuchi, Kayoko, Kishimoto, Hirofumi, Nishida, Yasunori, Nakamura, Masato, Sudoh, Motohiro, Hirota, Seiichi
Format Journal Article
LanguageEnglish
Published Philadelphia Elsevier Limited 01.04.2014
Subjects
Deoxyribonucleic acid
DNA
Dysphagia
Genes
Hospitals
Kinases
Mutation
Pathology
Signal transduction
Smooth muscle
Tomography
Tumors
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Summary:Multiple gastrointestinal stromal tumors (GISTs) caused by germline c-kitgene mutations are an extremely rare autosomal dominant disorder. A 57-year-old Japanese woman was referred to a hospital for appetite loss and severe weight loss. She had 2 large abdominal masses around the stomach, which were surgically resected. Histological examination revealed that these tumors were GISTs. Multiple microscopic GISTs and diffuse hyperplasia of the interstitial cells of Cajal were also seen in the background gastric and small intestinal walls. Characteristically, the GISTs showed severe hyalinization with calcification and partial heterotopic ossification, which may have caused the patient's severe dysphagia. Mutational analysis of the c-kitgene revealed a substitution at codon 642 in exon 13 (K642T) in the tumor, normal ileal mucosa and peripheral blood leukocytes, indicating that the mutation is in the germline. This is the first case of multiple GISTs with novel germline c-kitgene mutation at exon 13.
ISSN:0046-8177
1532-8392
DOI:10.1016/j.humpath.2013.11.009