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Carcinogenesis ; 42(3): 436-441, 2021 04 17.
Artículo en Inglés | MEDLINE | ID: mdl-33200197

RESUMEN

In multifocal intrahepatic cholangiocarcinoma (IHC), intrahepatic metastases (IM) represent a contraindication to surgical resection, whereas satellite nodules (SN) do not. However, no consensus criteria exist to distinguish IM from SN. The purpose of this study was to determine genetic alterations and clonal relationships in surgically resected multifocal IHC. Next-generation sequencing of 34 spatially separated IHC tumors was performed using a targeted panel of 201 cancer-associated genes. Proposed definitions in the literature were applied of SN located in the same liver segment and ≤2 cm from the primary tumor; and IM located in a different liver segment and/or >2 cm from the primary tumor. Somatic point mutations concordant across tumors from individual patients included BAP1, SMARCA4 and IDH1. Small insertions and deletions (indels) present at the same genome positions among all tumors from individuals included indels in DNA repair genes, CHEK1, ERCC5, ATR and MSH6. Copy number alterations were also similar between all tumors in each patient. In this cohort of multifocal IHC, genomic profiles were concordant across all tumors in each patient, suggesting a common progenitor cell origin, regardless of the location of tumors in the liver. The decision to perform surgery should not be based upon a perceived distinction between IM and SN.


Asunto(s)
Neoplasias de los Conductos Biliares/genética , Biomarcadores de Tumor/genética , Colangiocarcinoma/genética , Neoplasias Hepáticas/genética , Metástasis Linfática/genética , Recurrencia Local de Neoplasia/epidemiología , Neoplasias de los Conductos Biliares/mortalidad , Neoplasias de los Conductos Biliares/patología , Neoplasias de los Conductos Biliares/cirugía , Conductos Biliares Intrahepáticos/patología , Conductos Biliares Intrahepáticos/cirugía , Colangiocarcinoma/mortalidad , Colangiocarcinoma/secundario , Colangiocarcinoma/cirugía , Toma de Decisiones Clínicas , Contraindicaciones de los Procedimientos , Variaciones en el Número de Copia de ADN , Análisis Mutacional de ADN , Diagnóstico Diferencial , Estudios de Seguimiento , Hepatectomía/efectos adversos , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Mutación INDEL , Hígado/patología , Hígado/cirugía , Neoplasias Hepáticas/mortalidad , Neoplasias Hepáticas/secundario , Neoplasias Hepáticas/cirugía , Escisión del Ganglio Linfático/efectos adversos , Ganglios Linfáticos/patología , Ganglios Linfáticos/cirugía , Metástasis Linfática/diagnóstico , Metástasis Linfática/patología , Metástasis Linfática/terapia , Recurrencia Local de Neoplasia/prevención & control , Selección de Paciente , Mutación Puntual , Medicina de Precisión/métodos , Supervivencia sin Progresión
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