Djerouni Mohamed, Dumont Sarah N
Gustave-Roussy Cancer Campus, département d'oncologie médicale, 114, rue Edouard-Vaillant, 94800 Villejuif, France.
Gustave-Roussy Cancer Campus, département d'oncologie médicale, 114, rue Edouard-Vaillant, 94800 Villejuif, France.
Bull Cancer. 2020 Apr;107(4):499-505. doi: 10.1016/j.bulcan.2019.12.007. Epub 2020 Feb 13.
Gastrointestinal stromal tumors (GIST) are the most common non-epithelial tumors of the gastrointestinal tract. Wild-type GISTs (WT-GIST) consist of a rare heterogeneous group characterized by the lack of activating mutations in the tyrosine kinase receptor (Kit) and/or platelet derived growth factor receptor A (PDGFRA). However, WT-GIST is characterized by other genomic alterations, including dehydrogenase succinate (SDH) deficiency or mutations in the Ras pathway. Recent studies have reported many mutations in others genes that may be incriminated in the development of WT-GISTs. Moreover, WT-GIST is frequently associated with hereditary cancer syndromes such as the Carney Triad and Type 1 Neurofibromatosis (NF1). WT-GIST affects usually young and pediatric patients. Most WT-GIST subtypes are insensitive to imatinib; therefore, their therapeutic management is somewhat different from usual GISTs. This review resumes the molecular and therapeutic features of this rare entity.
胃肠道间质瘤（GIST）是胃肠道最常见的非上皮性肿瘤。野生型胃肠道间质瘤（WT-GIST）是一个罕见的异质性群体，其特征是酪氨酸激酶受体（Kit）和/或血小板衍生生长因子受体A（PDGFRA）缺乏激活突变。然而，WT-GIST的特征还包括其他基因组改变，如琥珀酸脱氢酶（SDH）缺陷或Ras途径中的突变。最近的研究报告了许多其他基因中的突变，这些突变可能与WT-GIST的发生有关。此外，WT-GIST常与遗传性癌症综合征相关，如卡尼三联征和1型神经纤维瘤病（NF1）。WT-GIST通常影响年轻患者和儿童患者。大多数WT-GIST亚型对伊马替尼不敏感；因此，它们的治疗管理与通常的GIST有所不同。本综述总结了这种罕见实体的分子和治疗特征。
