Department of Anatomical Pathology, Aizawa Hospital, Matsumoto 390-8510, Japan; Department of Pathology, School of Medicine, Keio University, Tokyo 160-8582, Japan.
Department of Anatomical Pathology, Aizawa Hospital, Matsumoto 390-8510, Japan.
Hum Pathol. 2014 Apr;45(4):884-8. doi: 10.1016/j.humpath.2013.11.009. Epub 2013 Nov 27.
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.
多发胃肠道间质瘤（GIST）由胚系 c-kit 基因突变引起，是一种极其罕见的常染色体显性遗传疾病。一位 57 岁的日本女性因食欲减退和严重体重减轻而被转至医院。她的胃部周围有 2 个大的腹部肿块，已通过手术切除。组织学检查显示这些肿瘤为 GIST。在胃和小肠壁的背景中还可见到多个微小的 GIST 和 Cajal 间质细胞的弥漫性增生。特征性的是，GIST 表现出严重的玻璃样变伴钙化和部分异位骨化，这可能导致了患者严重的吞咽困难。c-kit 基因突变分析显示肿瘤、正常回肠黏膜和外周血白细胞中 13 号外显子 642 密码子（K642T）的取代，表明该突变是种系性的。这是首例发生在 13 号外显子的新型胚系 c-kit 基因突变导致的多发 GIST。
