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Nat Commun ; 9(1): 216, 2018 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-29335443

RESUMO

EGFR-mutant lung adenocarcinomas (LUAD) display diverse clinical trajectories and are characterized by rapid but short-lived responses to EGFR tyrosine kinase inhibitors (TKIs). Through sequencing of 79 spatially distinct regions from 16 early stage tumors, we show that despite low mutation burdens, EGFR-mutant Asian LUADs unexpectedly exhibit a complex genomic landscape with frequent and early whole-genome doubling, aneuploidy, and high clonal diversity. Multiple truncal alterations, including TP53 mutations and loss of CDKN2A and RB1, converge on cell cycle dysregulation, with late sector-specific high-amplitude amplifications and deletions that potentially beget drug resistant clones. We highlight the association between genomic architecture and clinical phenotypes, such as co-occurring truncal drivers and primary TKI resistance. Through comparative analysis with published smoking-related LUAD, we postulate that the high intra-tumor heterogeneity observed in Asian EGFR-mutant LUAD may be contributed by an early dominant driver, genomic instability, and low background mutation rates.


Assuntos
Adenocarcinoma/genética , Receptores ErbB/genética , Sequenciamento do Exoma/métodos , Genômica/métodos , Neoplasias Pulmonares/genética , Mutação , Adenocarcinoma/etnologia , Adenocarcinoma/patologia , Povo Asiático/genética , Linhagem Celular Tumoral , Resistencia a Medicamentos Antineoplásicos/efeitos dos fármacos , Resistencia a Medicamentos Antineoplásicos/genética , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/genética , Humanos , Neoplasias Pulmonares/etnologia , Neoplasias Pulmonares/patologia , Inibidores de Proteínas Quinases/farmacologia
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