Detection of EML4‐ALK fusion genes in non‐small cell lung cancer patients with clinical features associated with EGFR mutations
Detection of EML4‐ALK fusion genes in non‐small cell lung cancer patients with clinical features associated with EGFR mutations
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DOI：
10.1002/gcc.21976
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发表时间：
2012-10
期刊：
影响因子：
3.5
通讯作者：
Shaozhang Zhou;Xiaomei Lin;Z. Aiping;Jianbo He;Xiangqun Song;Yu Qitao
中科院分区：
文献类型：
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作者：
Shaozhang Zhou;Xiaomei Lin;Z. Aiping;Jianbo He;Xiangqun Song;Yu Qitao
EML 4 ‐ALK融合基因已被认为是一小部分非小细胞肺癌（NSCLC）中的新型“驱动突变”。具有EGFR突变相关临床特征的NSCLC患者中EML 4 ‐ALK融合的频率仍未知。我们根据以下一个或多个特征筛选了102例中国NSCLC患者：女性、无吸烟史或轻度吸烟史、腺癌组织学。通过RT-PCR鉴定EML 4-ALK融合基因，而通过DNA测序检测EGFR（外显子18-21）和KRAS（外显子1和2）突变。8份标本（8%）为EML 4-ALK融合阳性，其中7份为变体1，1份为变体2。分别有44例（43%）和17例（16%）患者携带EGFR和KRAS突变。31例（31%）病例为EML 4-ALK、EGFR和KRAS突变野生型。在8例EML 4 ‐ALK患者中，无EGFR突变，而在1例患者中检测到KRAS突变。在组织学上，5例EML 4-ALK阳性肿瘤为腺癌，2例为混合性腺鳞癌;仅1例为鳞癌。我们的数据支持EML 4 ‐ALK融合基因定义了具有不同病理特征的NSCLC新分子亚群的结论。© 2012 Wiley Peiodicals，Inc.
EML4‐ALK fusion genes have been recognized as novel “driver mutations” in a small subset of non‐small cell lung cancers (NSCLC). The frequency of EML4‐ALK fusions in NSCLC patients who have clinical characteristics related to EGFR mutation remains unknown. We screened 102 Chinese patients with NSCLC based on one or more of the following characteristics: female, no or light smoking history, and adenocarcinoma histology. EML4‐ALK fusion genes were identified by RT‐PCR, whereas EGFR (Exons 18–21) and KRAS (Exons 1 and 2) mutations were detected by DNA sequencing. Eight specimens (8%) were positive for EML4‐ALK fusions, with seven being Variant 1 and one Variant 2. There were 44 (43%) and 17 (16%) patients harboring EGFR and KRAS mutations, respectively. Thirty‐one (31%) cases were wild type for EML4‐ALK, EGFR, and KRAS mutations. Of the eight patients with EML4‐ALK, none had an EGFR mutation, whereas a KRAS mutation was detected in one patient. Histologically, five of the EML4‐ALK positive tumors were adenocarcinoma and two were mixed adenosquamous carcinoma; only one was a squamous carcinoma. Our data support the conclusion that the EML4‐ALK fusion gene defines a new molecular subset of NSCLC with distinct pathologic features. © 2012 Wiley Peiodicals, Inc.