title: Multiple gastrointestinal stromal tumors with novel germline c-kit gene mutation, K642T, at exon 13.
abstract: Multiple gastrointestinal stromal tumors (GISTs) caused by germline c-kit gene 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-kit gene 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-kit gene mutation at exon 13.
authors.affiliation: Department of Anatomical Pathology, Aizawa Hospital, Matsumoto 390-8510, Japan; Department of Pathology, School of Medicine, Keio University, Tokyo 160-8582, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Yamanoi
authors.affiliation: Department of Anatomical Pathology, Aizawa Hospital, Matsumoto 390-8510, Japan. Electronic address: byori-dr@ai-hosp.or.jp.
authors.forename: Kayoko
authors.initials: K
authors.lastname: Higuchi
authors.affiliation: Department of Surgery, Aizawa Hospital, Matsumoto 390-8510, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Kishimoto
authors.affiliation: Department of Surgery, Aizawa Hospital, Matsumoto 390-8510, Japan.
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Nishida
authors.affiliation: Department of Surgery, Aizawa Hospital, Matsumoto 390-8510, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Nakamura
authors.affiliation: Department of Anatomical Pathology, Aizawa Hospital, Matsumoto 390-8510, Japan.
authors.forename: Motohiro
authors.initials: M
authors.lastname: Sudoh
authors.affiliation: Department of Surgical Pathology, Hyogo College of Medicine, Nishinomiya 663-8501, Japan.
authors.forename: Seiichi
authors.initials: S
authors.lastname: Hirota
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics* / Q000473:pathology; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D019009:Proto-Oncogene Proteins c-kit
keywords: Exon 13; Familial; GIST; Germline mutation; Heterotopic ossification