Cancer Genetics ( IF 1.4 ) Pub Date : 2019-12-16 , DOI: 10.1016/j.cancergen.2019.12.002 Martina Rinelli 1 , Emanuele Agolini 1 , Giuseppe Maria Milano 2 , Ida Russo 2 , Alessandro Crocoli 3 , Rita De Vito 4 , Angela Di Giannatale 2 , Pier Luigi Di Paolo 5 , Antonio Novelli 1
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and rarely occur in pediatric patients. 85% of pediatric GISTs and 15% of adult GISTs lack of KIT or PDGFRA mutations. 40% of these “wild-type” GISTs present loss of function mutations in genes encoding for the subunits of the succinate dehydrogenase (SDH) complex. Germline mutations in SDH complex genes have been described in patients with the Carney–Stratakis syndrome (CSS), a rare inherited condition that predisposes to GIST and paraganglioma. We report two pediatric patients with multifocal GIST, harboring respectively a novel and a previously reported loss-of-function germline variant, in SDHC and SDHB genes.
中文翻译:
小儿胃肠道间质瘤:两名新患者的SDHB和SDHC基因种系变异的报告。
胃肠道间质瘤(GIST)是胃肠道最常见的间质肿瘤,在儿科患者中很少发生。85%的儿科GIST和15%的成人GIST缺乏KIT或PDGFRA突变。这些“野生型” GIST中有40%在编码琥珀酸脱氢酶(SDH)复合物亚基的基因中出现功能突变。卡尼-斯特拉塔基斯综合征(CSS)是一种罕见的遗传病,易患GIST和副神经节瘤,曾描述过SDH复合基因中的种系突变。我们报告了两名小儿多焦点GIST的患儿,分别在SDHC和SDHB基因中携带一种新颖的和先前报道的功能丧失的种系变异。