The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations

被引：36
|
作者：
Boikos, Sosipatros A. [1 ]
Stratakis, Constantine A. [2 ]
机构：
[1] Sidney Kimmel Comprehens Canc Ctr Johns Hopkins, Baltimore, MD 21287 USA
[2] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD USA
来源：
ENDOCRINE | 2014年 / 47卷 / 02期
关键词：
SDH-deficient GIST; BRAF; NF1; Paraganglioma; Chondroma; SUCCINATE-DEHYDROGENASE SUBUNIT; GIST FOLLOWING FAILURE; MULTICENTER PHASE-II; V600E BRAF MUTATIONS; CARNEY TRIAD; EXTRAADRENAL PARAGANGLIOMA; GERMLINE MUTATIONS; DEFICIENT GISTS; SDHB EXPRESSION; B SDHB;
D O I：
10.1007/s12020-014-0346-3
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
About 10-15 % of adult gastrointestinal stromal tumors (GISTs) and 85 % of pediatric GISTs do not have mutations in the KIT or PDGFRA genes and are generally classified as KIT/PDGFRA wild type (WT). Recent studies have shown that this group of KIT/PDGFRA WT GISTs is quite heterogeneous in terms of clinical phenotype, genetic etiology, and molecular pathways. Succinate dehydrogenase subunit (SDH)-deficient GISTs, which include tumors that are part of multiple endocrine neoplasia syndromes, are the newest group of KIT/PDGFRA WT GIST to be molecularly elucidated. This review aims to describe the different genetic subgroups of KIT/PDGFRA WT GIST, with a special focus on the SDH-deficient GIST.
引用
收藏
页码：401 / 408
页数：8
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