Rinelli Martina, Agolini Emanuele, Milano Giuseppe Maria, Russo Ida, Crocoli Alessandro, De Vito Rita, Di Giannatale Angela, Di Paolo Pier Luigi, Novelli Antonio
Laboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Laboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Cancer Genet. 2020 Feb;241:61-65. doi: 10.1016/j.cancergen.2019.12.002. Epub 2019 Dec 16.
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.
胃肠道间质瘤（GISTs）是胃肠道最常见的间充质肿瘤，在儿科患者中很少见。85%的儿科GISTs和15%的成人GISTs缺乏KIT或PDGFRA突变。这些“野生型”GISTs中有40%在编码琥珀酸脱氢酶（SDH）复合体亚基的基因中存在功能丧失突变。SDH复合体基因的种系突变已在Carney-Stratakis综合征（CSS）患者中被描述，CSS是一种罕见的遗传性疾病，易患GIST和副神经节瘤。我们报告了两名患有多灶性GIST的儿科患者，分别在SDHC和SDHB基因中携带一种新的和先前报道的功能丧失种系变体。
