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



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.



This was an extremely rare case in which familial GIST with germline KIT gene mutations co-existed with HBOC.
Department of General Surgery, St. Luke's International Hospital, Tokyo, Japan.|Department of Gastroenterological Surgery, Osaka University, Graduate School of Medicine, Osaka, Japan.
Yuki
Y
Sekido
Department of General Surgery, St. Luke's International Hospital, Tokyo, Japan ttakahashi2@gesurg.med.osaka-u.ac.jp ohsei@luke.ac.jp.
Seiji
S
Ohigashi
Department of Gastroenterological Surgery, Osaka University, Graduate School of Medicine, Osaka, Japan ttakahashi2@gesurg.med.osaka-u.ac.jp ohsei@luke.ac.jp.
Tsuyoshi
T
Takahashi
Department of Breast Surgical Oncology, St. Luke's International Hospital, Tokyo, Japan.
Naoki
N
Hayashi
Department of Pathology, St. Luke's International Hospital, Tokyo, Japan.
Koyu
K
Suzuki
Department of Surgical Pathology, Hyogo College of Medicine, Hyogo, Japan.
Seiichi
S
Hirota
D000368:Aged; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms; D005091:Exons; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics* / Q000473:pathology; D018095:Germ-Line Mutation; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D010375:Pedigree; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D019009:Proto-Oncogene Proteins c-kit
KIT mutation; familial gastrointestinal stromal tumor; hereditary breast and ovarian cancer syndrome