1. DNA variants detected in primary and metastatic lung adenocarcinoma: a case report and review of the literature.
- Author
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Kelly C, Raymond C, Han S, Lin Y, Chen L, Huang G, and Dong J
- Subjects
- Humans, Female, Middle Aged, Proto-Oncogene Proteins p21(ras) genetics, Adenocarcinoma genetics, Adenocarcinoma secondary, Adenocarcinoma pathology, Adenocarcinoma diagnosis, High-Throughput Nucleotide Sequencing, DNA Copy Number Variations, Proto-Oncogene Mas, Lung Neoplasms genetics, Lung Neoplasms pathology, Lung Neoplasms secondary, Lung Neoplasms diagnosis, Adenocarcinoma of Lung genetics, Adenocarcinoma of Lung pathology, Adenocarcinoma of Lung secondary, Adenocarcinoma of Lung diagnosis
- Abstract
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., (© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
- Published
- 2024
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