Engin Gulgun, Eraslan Serpil, Kayserili Hülya, Kapran Yersu, Akman Haluk, Akyuz Ali, Aykan Nuri Faruk
Oncology Institute, Istanbul University, 34390 Capa, Istanbul, Turkey.
Medical Genetics Department, Koç University, School of Medicine (KUSoM), 34010 Topkapı, Istanbul, Turkey.
World J Radiol. 2017 Sep 28;9(9):365-370. doi: 10.4329/wjr.v9.i9.365.
Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant disorder associated with mutations in the gene in the majority of cases. Although, exon 11 appears to be the hot spot region for approximately 95% of germline mutations, pathogenic variations have also been identified in exon 8, 13 and 17. Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date. Moreover, the role of imatinib mesylate in this rare familiar settings is not completely known so far. We describe here clinical, imaging, pathological and genetic findings of a family with four affected members; grandmother, his son and two grand-sons having a germline gain-of-function mutation of in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.
家族性胃肠道间质瘤（GIST）是一种罕见的常染色体显性疾病，大多数病例与该基因的突变有关。虽然，外显子11似乎是约95%种系突变的热点区域，但外显子8、13和17中也已鉴定出致病变异。外显子13种系突变在家族性GIST中极为罕见，迄今为止已报道了7个有这种种系突变的家族。此外，甲磺酸伊马替尼在这种罕见的家族性病例中的作用目前尚不完全清楚。我们在此描述一个有四名受影响成员的家族的临床、影像学、病理和遗传学发现；祖母、她的儿子和两个孙子在外显子13中存在种系功能获得性突变，并讨论了甲磺酸伊马替尼治疗监测对疾病管理的结果。
