RESUMEN

Clear cell renal cell carcinoma (ccRCC) is a heterogeneous disease with features that vary by ethnicity. A systematic characterization of the genomic landscape of Chinese ccRCC is lacking, and features of ccRCC associated with tumor thrombus (ccRCC-TT) remain poorly understood. Here, we applied whole-exome sequencing on 110 normal-tumor pairs and 42 normal-tumor-thrombus triples, and transcriptome sequencing on 61 tumor-normal pairs and 30 primary-thrombus pairs from 152 Chinese patients with ccRCC. Our analysis reveals that a mutational signature associated with aristolochic acid (AA) exposure is widespread in Chinese ccRCC. Tumors from patients with ccRCC-TT show a higher mutational burden and genomic instability; in addition, mutations in BAP1 and SETD2 are highly enriched in patients with ccRCC-TT. Moreover, patients with/without TT show distinct molecular characteristics. We reported the integrative genomic sequencing of Chinese ccRCC and identified the features associated with tumor thrombus, which may facilitate ccRCC diagnosis, prognosis and treatment.

Asunto(s)

Carcinoma de Células Renales/genética , Neoplasias Renales/genética , Trombosis/genética , Adulto , Anciano , Anciano de 80 o más Años , Ácidos Aristolóquicos/toxicidad , Pueblo Asiatico/genética , Carcinoma de Células Renales/complicaciones , Carcinoma de Células Renales/etiología , China , Estudios de Cohortes , Femenino , Perfilación de la Expresión Génica , Estudios de Asociación Genética , Inestabilidad Genómica , Humanos , Neoplasias Renales/complicaciones , Neoplasias Renales/etiología , Masculino , Persona de Mediana Edad , Mutación , Pronóstico , Trombosis/complicaciones , Trombosis/etiología , Secuenciación del Exoma