Carta el editor: Características de los pacientes con cáncer de pulmón de célula no pequeña en el Instituto Nacional de Cancerología de Colombia

Cardona, Andrés Felipe; Arrieta, Óscar; Ruíz-Patiño, Alejandro; Rojas, Leonardo; Rolfo, Christian

doi:10.35509/01239015.815

Cited by 3 publications

(1 citation statement)

References 30 publications

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“…Ancestry-mediated variations in the prevalence of alterations of LC from LA are well-documented, particularly for genes with approved targeted therapy in the region [17][18][19][20]. Compared to Peru, Mexico and Ecuador, lower prevalence estimates of EGFR alterations are reported for Chile, with values similar to those found in European and White patients [21,22].…”

Section: Discussionmentioning

confidence: 99%

Beyond Tobacco: Genomic Disparities in Lung Cancer Between Smokers and Never-Smokers

Garrido,

Bernal,

González

et al. 2024

Preprint

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Background Tobacco use is one of the main risk factors for Lung Cancer (LC) development. However, about 10–20% of those diagnosed with the disease are never-smokers. For Non-Small Cell Lung Cancer (NSCLC) there are clear differences in both the clinical presentation and the tumor genomic profiles between smokers and never-smokers. For example, the Lung Adenocarcinoma (LUAD) histological subtype in never-smokers is predominately found in young women of European, North American, and Asian descent. While the clinical presentation and tumor genomic profiles of smokers have been widely examined, never-smokers are usually underrepresented, especially those of a Latin American (LA) background. In this work, we characterize, for the first time, the difference in the genomic profiles between smokers and never-smokers LC patients from Chile. Methods We conduct a comparison by smoking status in the frequencies of genomic alterations (GAs) including somatic mutations and structural variants (fusions) in a total of 10 clinically relevant genes, including the eight most common actionable genes for LC (EGFR, KRAS, ALK, MET, BRAF, RET, ERBB2, and ROS1) and two established driver genes for malignancies other than LC (PI3KCA and MAP2K1). Study participants were grouped as either smokers (current and former, n = 473) or never-smokers (n = 200) according to self-report tobacco use at enrollment. Results Our findings indicate a higher overall GA frequency for never-smokers compared to smokers (58 vs. 45.7, p-value < 0.01) with the genes EGFR, KRAS, and PIK3CA displaying the highest prevalence while ERBB2, RET, and ROS1 the lowest. Never-smokers present higher frequencies in seven out of the 10 genes; however, smokers harbor a more complex genomic profile. The clearest differences between groups are seen for EGFR (15.6 vs. 21.5, p-value:<0.01), PIK3CA (6.8 vs 9.5) and ALK (3.2 vs 7.5) in favor of never-smokers, and KRAS (16.3 vs. 11.5) and MAP2K1 (6.6 vs. 3.5) in favor of smokers. Alterations in these genes are comprised almost exclusively by somatic mutations in EGFR and mainly by fusions in ALK, and only by mutations in PIK3CA, KRAS and MAP2K1. Conclusions We found clear differences in the genomic landscape by smoking status in LUAD patients from Chile, with potential implications for clinical management in these limited-resource settings.

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