Analysis of targeted somatic mutations in pleomorphic carcinoma of the lung usingnext-generationsequencing technique
Analysis of targeted somatic mutations in pleomorphic carcinoma of the lung usingnext-generationsequencing technique
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DOI：
10.1111/1759-7714.13536
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发表时间：
2020-06-23
期刊：
影响因子：
2.9
通讯作者：
Yamada, Kouzo
中科院分区：
文献类型：
--
作者：
Manabe, Saki;Kasajima, Rika;Yamada, Kouzo
背景：肺多形性癌是一种少见的肺癌，具有侵袭性和预后差的特点。由于其罕见，PC的分子特征仍不清楚。方法采用下一代测序技术对手术切除的肺PC患者进行基因突变分析。结果共9例患者入组研究。所有患者均为男性，8人有吸烟史。8个肿瘤含有梭形细胞，3个含有巨细胞。在9名患者中的8名患者中发现了被认为是显著的突变：5名患者在TP 53中，2名患者在MET中，以及ALK、ERBB 2、PIK3CA、APC、NF 1和CDKN 2A各在1名患者中。在我们的分析中检测到NoEGFR突变。在3例患者中检测到共突变：TP 53与MET和NF 1，TP 53与ERBB 2，PIK 3CA与CDKN 2A。结论NGS分析发现TP 53基因突变最常见于肺PC。在几个标本中观察到不同的共突变。研究要点本研究的重要发现表明，使用基因组谱分析，在肺多形性癌中经常发现TP53基因突变，有时发现共突变。本研究的结果将有助于分析多形性肺癌的遗传特征和分子靶向药物的潜在靶点。
Background Pleomorphic carcinoma (PC) of the lung is a rare type of lung cancer with aggressive characteristics and a poor prognosis. Because it is rare, the molecular characteristics of PC remain unclear. Methods A gene mutation analysis was performed using next-generation sequencing (NGS) in patients with PC of the lung who had undergone surgical resection. Results A total of nine patients were enrolled in the study. All the patients were male and eight had a history of smoking. Eight tumors contained spindle cells and three contained giant cells. Mutations considered significant were found in eight of the nine patients: inTP53in five patients, inMETin two patients, and inALK,ERBB2,PIK3CA,APC,NF1, andCDKN2Ain one patient each. NoEGFRmutation was detected in our analysis. Co-mutations were detected in three patients:TP53withMETandNF1,TP53 with ERBB2, andPIK3CAwithCDKN2A. Conclusions TP53mutations were detected most frequently in PC of the lung with NGS analysis. Different co-mutations were seen in several specimens. Key pointsSignificant findings of the study This study demonstrates that mutations in the TP53 gene are frequently found and co-mutations are sometimes found in pleomorphic carcinoma of the lung using genomic profiling analysis. What this study adds Our results will help to analogize the genetic characteristics and potential target of molecular-targeted agents of pleomorphic carcinoma of the lung.