在原发性和转移性肺腺癌中检测到的 DNA 变异:病例报告和文献综述。

Christina Kelly, Caitlin Raymond, Song Han, Youmin Lin, Linyijia Chen, Gengming Huang, Jianli Dong
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摘要

研究发现,非小细胞肺癌(NSCLC)具有复发性遗传异常,针对这些畸变的新型疗法提高了患者的生存率。在这项研究中,研究人员从一名被诊断为 NSCLC 的 55 岁白种女性患者的尸检中获得了良性组织、原发肿瘤和脑转移灶的标本,并使用新一代测序(NGS)和染色体微阵列分析(CMA)对标本进行了检测。良性组织中未发现基因畸变,但 NGS 发现 KRAS 原癌基因 GTPase(KRAS)发生了突变:然而,NGS 在原发性和转移性肿瘤标本中发现了 KRAS 原癌基因 GTPase(KRAS)的突变:KRAS 外显子 2 p.G12D。我们在原发性和转移性肿瘤标本中观察到 7 个 DNA 拷贝数畸变(CNA);另外 7 个 CNA 只在转移性肿瘤标本中检测到。这些DNA畸变可能是患者肿瘤标本发病机制中的遗传驱动因素,可作为NSCLC分类和预后的生物标志物。
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DNA variants detected in primary and metastatic lung adenocarcinoma: a case report and review of the literature.

Non-small cell lung cancer (NSCLC) has been found to have recurrent genetic abnormalities, and novel therapies targeting these aberrations have improved patient survival. In this study, specimens from benign tissue, primary tumors, and brain metastases were obtained at autopsy from a 55-year-old White female patient diagnosed with NSCLC and were examined using next-generation sequencing (NGS) and chromosomal microarray assay (CMA). No genetic aberrations were noted in the benign tissue; however, NGS identified a mutation in the KRAS proto-oncogene, GTPase (KRAS): KRAS exon 2 p.G12D in primary and metastatic tumor specimens. We observed 7 DNA copy number aberrations (CNAs) in primary and metastatic tumor specimens; an additional 7 CNAs were exclusively detected in the metastatic tumor specimens. These DNA alterations may be genetic drivers in the pathogenesis of the tumor specimen from our patient and may serve as biomarkers for the classification and prognosis of NSCLC.

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