伴有遗传性乳腺癌和卵巢癌综合征的生殖系突变家族性胃肠道间质瘤

Familial Gastrointestinal Stromal Tumor with Germline Mutations Accompanying Hereditary Breast and Ovarian Cancer Syndrome.

作者信息

Sekido Yuki, Ohigashi Seiji, Takahashi Tsuyoshi, Hayashi Naoki, Suzuki Koyu, Hirota Seiichi

机构信息

Department of General Surgery, St. Luke's International Hospital, Tokyo, Japan.

Department of Gastroenterological Surgery, Osaka University, Graduate School of Medicine, Osaka, Japan.

出版信息

Anticancer Res. 2017 Mar;37(3):1425-1431. doi: 10.21873/anticanres.11466.

DOI:10.21873/anticanres.11466

PMID:28314314

Abstract

BACKGROUND

Familial gastrointestinal stromal tumor (GIST) is a rare disease with germline mutations in the c-kit gene (KIT) or platelet-derived growth factor receptor alpha gene (PDGFRA). We had encountered multiple GISTs in the stomach and small intestine during a screening of ovarian cancer for a woman with hereditary breast and ovarian cancer syndrome (HBOC) with breast cancer susceptibility gene II (BRCA2) mutations. The aim of this study was to examine this case in detail.

CASE REPORT

A 65-year-old woman diagnosed with HBOC harboring BRCA2 mutations was found to have multiple tumors in the stomach and small intestine by abdominal screening. All tumors were resected, and KIT gene mutations (p.Trp557Leu and p.Lys558Glu) in exon 11 were detected in all tumors and peripheral blood leukocytes. The patient was diagnosed with familial GIST.

CONCLUSION

This was an extremely rare case in which familial GIST with germline KIT gene mutations co-existed with HBOC.

摘要

背景

家族性胃肠道间质瘤（GIST）是一种罕见疾病，其c-kit基因（KIT）或血小板衍生生长因子受体α基因（PDGFRA）存在种系突变。在对一名患有遗传性乳腺癌和卵巢癌综合征（HBOC）且携带乳腺癌易感基因II（BRCA2）突变的女性进行卵巢癌筛查时，我们在其胃和小肠中发现了多个胃肠道间质瘤。本研究的目的是对该病例进行详细检查。