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[Study of genetic variants in 169 non-small cell lung cancer patients]. | LitMetric

[Study of genetic variants in 169 non-small cell lung cancer patients].

Rev Esp Patol

Unidad de Gestión Clínica Anatomía Patológica, Hospital Universitario de Jerez de la Frontera, Jerez de la Frontera, Cádiz, España; Instituto de Investigación e Innovación Biomédica de Cádiz (INiBICA), Cádiz, España.

Published: November 2023

AI Article Synopsis

  • Lung cancer is a leading cause of cancer deaths, with non-small cell lung cancer (NSCLC) serving as a key area for personalized medicine research.
  • The study analyzed 174 paraffin-embedded NSCLC samples using immunohistochemical methods and Next-Generation Sequencing to identify genetic variants in a specific population.
  • Notable findings include high positivity rates for certain markers in adenocarcinoma, with significant variants like KRAS and EGFR being more frequent in women, indicating potential implications for treatment strategies.

Article Abstract

Introduction: Lung cancer is the leading cause of cancer death in our country. Non-small cell lung cancer (NSCLC) represents the paradigm of personalized medicine. The main objective of this study is analysing the distribution of the most frequently described clinically significant variants in NSCLC, in our environment.

Material And Methods: We studied the immunohistochemical expression of TTF1, p40 and PD-L1 and the genetic variants frequency using Next-Generation Sequencing (NGS) with a panel of 52 genes, in 174 NSCLC paraffin-embedded samples in 169 patients (111 men and 52 women) from the province of Cádiz.

Results: The immunohistochemical expression of TTF1, p40 and PD-L1 was positive in 87%, 0% and 46% in adenocarcinoma, and 0%, 100% and 41% in squamous cell carcinoma. In NGS, the most common single nucleotide variants (SNVs) were KRAS (36%), EGFR (14%), BRAF (10%), PIK3CA (8%), and MET (3%). The most frequent copy number variants (CNVs) were amplifications in NF1 (30%), EGFR (18%), CCND1 (9%), MYC (9%) and KRAS (7%). In women, SNV in EGFR are more frequent than in men (P<.0001). Adenocarcinoma is the most frequent histological type with SNV in KRAS (P=.007361) or in EGFR (P<.0001). Gene fusions were detected in 16 patients (9.47%), in 9 cases in the MET gene.

Conclusions: We detected associations, not described so far, between immunohistochemical expression and specific gene variants, which could have an impact on the treatment of NSCLC patients.

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Source
http://dx.doi.org/10.1016/j.patol.2023.06.002DOI Listing

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