Identificación del fenotipo de inestabilidad microsatelital en carcinoma colorrectal mediante el análisis de la expresión de proteínas reparadoras del ADN: Revisión narrativa

Orlando; Edith Oregón

doi:10.36829/63CTS.v8i2.945

Authors

Orlando Doctorado en Ciencias Biomédicas, Escuela de Estudios de Postgrado, Facultad de Ciencias Médicas, Universidad de San Carlos y Departamento de Laboratorios Clínicos, Sección de Patología, Hospital Roosevelt
Edith Oregón Doctorado en Ciencias Biomédicas, Centro Universitario de las Ciencias de la Salud, Universidad de Guadalajara, México

DOI:

https://doi.org/10.36829/63CTS.v8i2.945

Keywords:

Colon Cancer, MLH1, MSH2, MSH6, PMS2

Abstract

Colorectal cancer (CRC) is one of the leading causes of mortality in the world. In Guatemala it’s an important cause of morbidity (7.4 per million inhabitants). Lynch syndrome is clinically characterized by an early onset of nonpolyposis colorectal carcinoma, with multiple lesions and neoplasms. The syndrome is caused by mutations in genes encoding DNA mismatch repair proteins. The microsatellites are regions of the DNA that repeat between one or more nucleotides and are susceptible to errors during replication, these are corrected by a repair system, when genes are mutated, the errors persist. The genes encoding repair proteins are expressed in the nuclei of normal colonic cells which can be observed using immunohistochemical studies. The MLH1, MSH2 genes are found to be mutated in 90 % of the cases and the rest corresponds to the MSH6 and PMS2 genes. This oncogenic pathway characteristically consists of an alteration in the DNA repair system that is controlled by mismatch repair genes (MMR). An extensive research was conducted on PubMed, Springer and JAMA, using the keyword: CRC phenotype, Lynch syndrome and microsatellite instability. 55 articles were found. . This review«s objective is to understand the mechanisms of nonpolyposis colorectal cancer and the importance of identifying patients with a mutant phenotype as a predictive factor for the efficacy of the anti-PD1/PDL1 immunotherapy and for prognosis.

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Author Biography

Orlando, Doctorado en Ciencias Biomédicas, Escuela de Estudios de Postgrado, Facultad de Ciencias Médicas, Universidad de San Carlos y Departamento de Laboratorios Clínicos, Sección de Patología, Hospital Roosevelt

COORDINADOR DEL POSGRADO DE PATOLOGÍA, ESCUELA DE ESTUDIOS DE POSGRADO,FACULTAD DE CIENCIAS MEDICAS, USAC. HOSPITAL ROOSEVELT.

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