Fenotipo de inestabilidad de microsatélites en Carcinoma colorrectal mediante la expresión de proteínas reparadoras del ADN

Orlando Rodas Pernillo; Edith Oregon; Oscar Cóbar; Jad Joseph Abbas Chakhtoura; Hugo Cardona; Federico Nave; Elisa Hernandez

doi:10.36829/63CTS.v11i2.1650

Authors

Orlando Rodas Pernillo Escuela de Estudios de Postgrado, Facultad de Ciencias Médicas, Universidad de San Carlos de Guatemala
Edith Oregon Universidad de Guadalajara
Oscar Cóbar Escuela de Estudios de Postgrado, Facultad de Ciencias Médicas, Universidad de San Carlos de Guatemala
Jad Joseph Abbas Chakhtoura Universidad de Costa Rica
Hugo Cardona 5 Departamento de Laboratorios Clínicos y Patología, Hospital Roosevelt
Federico Nave Facultad de Ciencias Químicas y Farmacia, de la Universidad de San Carlos de Guatemala https://orcid.org/0000-0002-9981-3268
Elisa Hernandez Escuela de Estudios de Postgrado, Facultad de Ciencias Médicas

DOI:

https://doi.org/10.36829/63CTS.v11i2.1650

Abstract

Colorectal cancer (CRC) is a significant concern in Guatemala and the region, where microsatellite instability (MSI) has been identified as a key molecular marker in its pathogenesis. IMS, characterized by point mutations, deletions and insertions, is seen in approximately 15% of CRC cases, most frequently in early stages of the disease. This cross-sectional study analyzed the most frequent phenotypes of IMS in CRC through the expression of DNA repair proteins, such as MSH2, MLH1, MSH6 and PMS2, using immunohistochemistry techniques in 101 cases of patients diagnosed with CRC. The results showed a loss of expression of these proteins in 36% of cases. The significant associations were between MLH1/PMS2 and MSH2/MSH6, with p < .001, indicating a significant association with CRC. Furthermore, women were identified as having a higher risk of developing CRC related to IMS, particularly in the MLH1/PMS2 and MSH6/MSH2 associations. Detection of IMS not only allows for early molecular diagnosis but is also crucial for treatment choice. Patients with positive MSI tend to have a better prognosis and are ideal candidates for immunotherapy treatments, specifically PD-1/PD-L1 inhibitors, which could increase their survival. This study highlights the importance of IMS detection as an integral part of CRC treatment, contributing to the improvement of clinical outcomes in the region.

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