Actualización en inestabilidad de microsatélitesbiomarcador predictivo de respuesta a inmunoterapia

  1. Irene Ruiz Adelantado
  2. Clara Sáez Ibarra
  3. Laura Noguera Alonso
  4. Lorenzo Alarcón García
Revista:
Revista Sanitaria de Investigación

ISSN: 2660-7085

Año de publicación: 2024

Volumen: 5

Número: 5

Tipo: Artículo

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Otras publicaciones en: Revista Sanitaria de Investigación

Resumen

Microsatellite instability (MSI) represents a pattern of hypermutability occurring in DNA areas called microsatellites, which due to their repetitive nature are highly susceptible to errors caused by disruptions in DNA repair systems, specifically defects in the mismatch repair (MMR) system. These alterations are well-described in tumors included in the spectrum of Lynch Syndrome. It has been observed that patients with microsatellite instability, being in a state of hypermutability, express a greater number of neoantigens, rendering them susceptible to immunotherapy treatments. Approvals have recently been granted for the treatment of patients with microsatellite instability regardless of tumor type or location (agnostic therapy), although despite this, there is no consensus on when it is necessary to study it. Studies and guidelines recommend screening with immunohistochemistry of the 4 MMR system proteins and polymerase chain reaction (PCR) of microsatellites, as aberrant results have been described in up to 10% of cases. Next-generation sequencing (NGS) of MMR system protein genes is the most accurate detection method, but its low availability in healthcare centers relegates it to a method relegated to research. Regarding immunotherapy, a universal determination is not established, and individualized studies are recommended for cases refractory to conventional treatment. Studies reported in the literature use different detection methods, with variable cutoff points, which hinders standardization, interpretation, and reproducibility.

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Fuente de los datos: Dialnet