实用肿瘤杂志2025，Vol.40Issue(5)：439-446,8.DOI:10.13267/j.cnki.syzlzz.2025.064
BRAF突变型胃肠间质瘤15例临床病理和分子遗传学分析
BRAF-mutated gastrointestinal stromal tumors:a clinicopathological and molecular study of 15 cases
赵露 1邵梦圆 1印唐臣 1孙蒙 1刘绮颖 1喻林 1王坚1
作者信息
- 1. 复旦大学附属肿瘤医院病理科,上海 200032||复旦大学上海医学院肿瘤学系,上海 200032
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摘要
Abstract
Objective To explore the clinicopathological features and biological behavior of B-Raf proto oncogene serine/threonine protein kinase(BRAF)-mutated gastrointestinal stromal tumors(GISTs).Methods A total of 117 cases of KIT proto-oncogene receptor tyrosine kinase(KIT)and platelet derived growth factor receptor alpha(PDGFRA)wild-type GISTs demonstrated by Sanger sequencing were collected from the department of pathology of Fudan University Shanghai Cancer Center between January 2017 to April 2025,which were subjected to targeted next-generation sequencing(NGS).Among them,15 BRAF-mutated GISTs were identified.The correspond-ing clinicopathological and follow-up data were collected,and the immunostaining of BRAF V600E was performed.Results There were eight males and seven females with the age range from 34 to 76 years(mean:56 years;median:53 years).The tumor locations included the stomach(n=10),duodenum(n=3),and jejunum(n=2).Nine cases underwent open surgical resection,and six cases received endoscopic submucosal dissection.The tumor diameter ranged from 0.5 to 25 cm(mean:3.7 cm;median:1.5 cm).The histological types were spin-dle cell type in 14 cases and epithelioid type in one case.The mitotic figures were≤5/5 mm2 in 13 cases and>10/5 mm2 in two cases.According to the 2008 modified National Institutes of Health(NIH)risk stratification,eight cases were very low-risk,four were low-risk,and three were high-risk.All 15 cases expressed CD117,discovered on GIST-1(DOG1),succinate dehydrogenase B(SDHB),and BRAF V600E.NGS detected a missense mutation c.1799T>A(p.Val600Glu)in exon 15 of the BRAF gene in all cases.All 15 cases were followed up ranging from 1 to 50 months(median:22 months).Fourteen patients had no evidence of disease,and one patient had liver metastasis and peritoneal dissemination.Conclusions BRAF-mutated GISTs are rare,which more commonly affect middle-aged and elderly patients and frequently occur in the stomach and small intestine.They mainly display spindle cell type and typically express CD117,DOG1,BRAF V600E,and SDHB.BRAF V600E immunostaining can be used as a screening tool of BRAF-mutated GISTs,but molecular confirmations are required for the final diagnosis.The majority of BRAF-mutated GISTs are very low-risk and low-risk with a good prognosis.High-risk or advanced patients may benefit from BRAF inhibitor therapy.关键词
胃肠间质瘤/B-Raf原癌基因丝氨酸/苏氨酸蛋白激酶/二代测序Key words
gastrointestinal stromal tumor/B-Raf proto oncogene serine/threonine protein kinase/next-generation sequencing引用本文复制引用
赵露,邵梦圆,印唐臣,孙蒙,刘绮颖,喻林,王坚..BRAF突变型胃肠间质瘤15例临床病理和分子遗传学分析[J].实用肿瘤杂志,2025,40(5):439-446,8.
