EGFR gene mutation in gastrointestinal stromal tumours
EGFR gene mutation in gastrointestinal stromal tumours
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DOI：
10.1111/his.13251
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发表时间：
2017-10-01
期刊：
影响因子：
6.4
通讯作者：
Zhou, Xiao-Jun
中科院分区：
文献类型：
--
作者：
Shi, Shan-Shan;Wu, Nan;Zhou, Xiao-Jun
目的：探讨胃肠道间质瘤(GIST)中表皮生长因子受体(EGFR)基因突变状态及其与各种临床病理变量的关系，进一步探讨EGFR突变对肿瘤形成和发展的影响。方法与结果：从南京金陵医院病理科2010年至2015年间收集的323例GIST中，筛选出EGFR基因第19、21外显子突变。如果病历中有患者的临床数据和临床病理特征，则收集这些数据。在323例原发GIST中，我们发现了3例(0.93%)EGFR突变；这些突变从未与KIT、PDGFRα、KRAS或BRAF突变一起发生。2例肿瘤细胞呈梭形细胞形态，1例呈上皮样细胞形态。此外，这三个病例的形态和免疫表型与常见的GIST相比没有显著差异。总结的临床结果是，两例EGFR突变的GIST发生在女性和胃。EGFR突变病例的平均年龄为54.33岁，随访数据表明这些肿瘤风险低，复发率低。结论：我们首次确定携带EGFR突变的GIST是相对良性的肿瘤。尽管EGFR突变在GIST中很少出现，但EGFR似乎在GIST的发生和发展中起着重要作用。
Aims: The aim of this study was to evaluate the mutation status of epidermal growth factor receptor (EGFR) in gastrointestinal stromal tumours (GISTs) and its association with various clinicopathological variables, as well as to discuss further the effects of EGFR mutations on tumour formation and progression.Methods and results: A well-characterized cohort of 323 GISTs, obtained between 2010 and 2015 from the surgical pathology files of at the Department of Pathology of the Nanjing Jinling Hospital, was screened for mutations in exons 19 and 21 of the EGFR gene. Patient clinical data and clinicopathological features were collected if available in the medical records. Among the 323 primary GISTs, we identified three cases (0.93%) of EGFR mutations; these mutations never occurred together with KIT, PDGFR alpha, KRAS or BRAF mutations. In two cases, tumour cells exhibited spindle cell morphology and, in one case, epithelioid cell morphology. Additionally, the morphology and immunophenotype of these three cases did not show significant differences compared to common GISTs. The clinical results in summary were that two cases of EGFR-mutated GISTs occurred in females and in the stomach. The mean age of EGFR-mutated cases was 54.33 years, and the follow-up data indicated that these tumours were low risk and exhibited low recurrence.Conclusions: We first established that GISTs carrying EGFR mutation are relatively benign tumours. Although EGFR mutations were rarely present in GIST, EGFR seems to play a significant role in the development and progression of GIST.