Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency.
Crit Rev Oncol Hematol
; 113: 242-248, 2017 May.
Article
en En
| MEDLINE
| ID: mdl-28427513
ABSTRACT
Immune checkpoint inhibition is a new therapeutic strategy that has shown promising efficacy in many cancer types. Significant activity associated with mismatch repair (MMR) deficiency has been observed in hypermutated, microsatellite unstable (MSI) metastatic colorectal cancer (CRC). Beyond deficient-MMR tumors, somatic or germline DNA polymerase D1 (POLD1) or DNA polymerase E (POLE) alterations cause a hypermutated phenotype in CRC. This recently identified and rare subgroup of proficient-MMR tumors may also benefit from immunotherapy. In this review, we provide a comprehensive overview of recent data on CRC tumors harboring POLD1 or POLE mutations, with a focus on their molecular, histological, and clinical features. We also examine the evidence supporting the development of immune checkpoint inhibitors in this specific subgroup of CRC patients.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndromes Neoplásicos Hereditarios
/
Neoplasias Encefálicas
/
Neoplasias Colorrectales
/
ADN Polimerasa II
/
ADN Polimerasa III
/
Mutación
Tipo de estudio:
Etiology_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
Crit Rev Oncol Hematol
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
Año:
2017
Tipo del documento:
Article
País de afiliación:
Francia