克拉斯
腺癌
原发性肿瘤
肺癌
病理
外显子
癌基因
癌症
癌症研究
DNA测序
医学
生物
肿瘤科
转移
基因
内科学
结直肠癌
遗传学
细胞周期
作者
Christina Kelly,Caitlin Raymond,Sileny Han,You-Min Lin,L. Chen,Gengming Huang,Jianli Dong
出处
期刊:Labmedicine
[Oxford University Press]
日期:2024-03-25
标识
DOI:10.1093/labmed/lmae019
摘要
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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