Nicoś Marcin, Krawczyk Paweł, Mlak Radosław, Sawicki Marek, Jarosz Bożena, Powrózek Tomasz, Milanowski Piotr, Trojanowski Tomasz, Milanowski Janusz
Department and Clinic of Pneumonology, Oncology and Allergology, Medical University of Lublin, ul. Jaczewskiego 8, Lublin.
Pneumonol Alergol Pol. 2013;81(4):294-7.
HER2 (ErbB2/neu) is a member of the ErbB family of four structurally related receptors of tyrosine kinase activity. Overexpression of ErbB-1 (EGFR) and HER2 is found in many human cancers, but the presence of these genes mutations determines the effectiveness of EGFR and HER2 tyrosine kinase inhibitors in the therapy of non-small cell lung cancer (NSCLC).
To search for insertions of the HER2 gene in exon 20 in 150 brain metastases of non-small cell lung cancer patients, we used a PCR technique based on analysis of amplified DNA fragment lengths. We also compared the HER2 mutational status with clinicopathologic features and the presence of EGFR and BRAF mutations.
HER2 mutation was present in one male, non-smoking patient with low differentiated adenocarcinoma (0.67% of all patients and 1.5% of patients with adenocarcinoma). The mutations of EGFR and BRAF genes were not found in HER2-mutated patient.
The literature data suggests that patients with HER2 mutations may be sensitive to tyrosine kinase inhibitors of both EGFR and HER2 receptors (e.g. afatinib). Therefore, the identification of new driver mutations in NSCLC can improve the quality of patient care by enabling the use of correct molecularly targeted therapies.
HER2（ErbB2/neu）是具有酪氨酸激酶活性的四种结构相关受体的ErbB家族成员。在许多人类癌症中发现了ErbB-1（EGFR）和HER2的过表达，但这些基因突变的存在决定了EGFR和HER2酪氨酸激酶抑制剂在非小细胞肺癌（NSCLC）治疗中的有效性。
为了在150例非小细胞肺癌患者的脑转移瘤中寻找HER2基因第20外显子的插入情况，我们采用了基于扩增DNA片段长度分析的PCR技术。我们还将HER2突变状态与临床病理特征以及EGFR和BRAF突变的存在情况进行了比较。
1例男性、非吸烟、低分化腺癌患者存在HER2突变（占所有患者的0.67%，腺癌患者的1.5%）。在HER2突变患者中未发现EGFR和BRAF基因的突变。
文献数据表明，HER2突变患者可能对EGFR和HER2受体的酪氨酸激酶抑制剂（如阿法替尼）敏感。因此，在NSCLC中鉴定新的驱动突变可以通过使用正确的分子靶向治疗来提高患者护理质量。
