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DNA variants detected in primary and metastatic lung adenocarcinoma: a case report and review of the literature.

Authors :
Kelly, Christina
Raymond, Caitlin
Han, Song
Lin, Youmin
Chen, Linyijia
Huang, Gengming
Dong, Jianli
Source :
Laboratory Medicine. Sep2024, Vol. 5 Issue 5, p658-662. 5p.
Publication Year :
2024

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00075027
Volume :
5
Issue :
5
Database :
Academic Search Index
Journal :
Laboratory Medicine
Publication Type :
Academic Journal
Accession number :
179512880
Full Text :
https://doi.org/10.1093/labmed/lmae019