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胃癌中的表皮生长因子受体突变。

Epidermal growth factor receptor mutation in gastric cancer.

机构信息

Laboratory Center, The Second Affiliated Hospital of Dalian Medical University, 467 Zhongshan Road, Dalian, P. R. China.

出版信息

Pathology. 2011 Apr;43(3):234-8. doi: 10.1097/PAT.0b013e328344e61b.

Abstract

AIMS

Epidermal growth factor receptor (EGFR) and Kirsten-RAS (KRAS) mutations have been identified as predictors of response to EGFR tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer. We aimed to screen the mutations of both genes in gastric carcinoma to detect the suitability of EGFR TKIs for patients with gastric carcinoma.

METHODS

We screened EGFR mutation in exons 19-21 and KRAS mutation in exon 2 in 58 gastric adenocarcinomas from China using high resolution melting analysis (HRMA). Positive samples were confirmed by DNA sequencing.

RESULTS

Three EGFR missense mutations (5.2%) and 22 single nucleotide polymorphisms (SNP, Q787Q, 37.9%) were identified. To our knowledge, we report for the first time three mutation patterns of EGFR, Y801C, L858R and G863D, in gastric carcinoma. Two samples with EGFR mutation were mucinous adenocarcinoma. These three samples were collected from male patients aged over 75 years old. The frequency of KRAS mutation was 10.3% (6/58). The exclusiveness of EGFR and KRAS mutations was proven for the first time in gastric cancer.

CONCLUSIONS

Gastric carcinoma of the mucinous adenocarcinoma type collected from older male patients may harbour EGFR mutations. The small subset of gastric adenocarcinoma patients may respond to EGFR TKIs.

摘要

目的

表皮生长因子受体 (EGFR) 和 Kirsten-RAS (KRAS) 突变已被确定为非小细胞肺癌对 EGFR 酪氨酸激酶抑制剂 (TKI) 反应的预测因子。我们旨在筛选胃癌中这两个基因的突变,以检测 EGFR TKI 对胃癌患者的适用性。

方法

我们使用高分辨率熔解分析 (HRMA) 在中国的 58 例胃腺癌中筛选 EGFR 外显子 19-21 和 KRAS 外显子 2 的突变。阳性样本通过 DNA 测序确认。

结果

发现了三个 EGFR 错义突变(5.2%)和 22 个单核苷酸多态性(SNP,Q787Q,37.9%)。据我们所知,我们首次在胃癌中报告了三个 EGFR 突变模式,Y801C、L858R 和 G863D。有两个 EGFR 突变的样本是黏液腺癌。这三个样本均来自 75 岁以上的男性患者。KRAS 突变的频率为 10.3%(6/58)。首次证明了胃癌中 EGFR 和 KRAS 突变的排他性。

结论

来自老年男性患者的黏液性腺癌型胃癌可能存在 EGFR 突变。一小部分胃腺癌患者可能对 EGFR TKI 有反应。

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