Noninvasive detection of microsatellite instability in patients with endometrial cancer

The analysis of mismatch repair proteins in solid tissue is the standard of care (SoC) for the microsatellite instability (MSI) characterization in endometrial cancer (EC). Uterine aspirates (UAs) or circulating-DNA (cfDNA) samples capture the intratumor heterogeneity and provide a more comprehensiv...

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Detalles Bibliográficos
Autores: Casas Arozamena, Carlos, Moiola, C.P., Vilar Lagares, Ana, Bouso, M., Cueva, J., Cabrera, S., Sampayo Montenegro, María Victoria, Arias, E., Abalo Piñeiro, Alicia, García, Á., Lago Lestón, Ramón Manuel, Oltra, S., Díaz, E., Ruiz Bañobre, Juan, López López, Rafael, Moreno-Bueno, G., Gil-Moreno, A., Colás, E., Abal Posada, Miguel, Muinelo Romay, Laura
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Servizo Galego de Saúde (SERGAS)
Repositorio:RUNA. Repositorio da Consellería de Sanidade e Sergas
OAI Identifier:oai:runa.sergas.gal:20.500.11940/21787
Acceso en línea:https://portalcientifico.sergas.gal//documentos/63e7d77737a0683d533f6823
http://hdl.handle.net/20.500.11940/21787
Access Level:acceso abierto
Palabra clave:Female
Humans
Microsatellite Instability
Endometrial Neoplasms
Microsatellite Repeats
Cell-Free Nucleic Acids
Polymerase Chain Reaction
AS Santiago
IDIS
CHUS
Descripción
Sumario:The analysis of mismatch repair proteins in solid tissue is the standard of care (SoC) for the microsatellite instability (MSI) characterization in endometrial cancer (EC). Uterine aspirates (UAs) or circulating-DNA (cfDNA) samples capture the intratumor heterogeneity and provide a more comprehensive and dynamic molecular diagnosis. Thus, MSI analysis by droplet-digital PCR (ddPCR) in UAs and cfDNA can provide a reliable tool to characterize and follow-up the disease. The UAs, paraffin-embedded tumor tissue (FFPE) and longitudinal plasma samples from a cohort of 90 EC patients were analyzed using ddPCR panel and compared to the SoC. A high concordance (96.67%) was obtained between the analysis of MSI markers in UAs and the SoC. Three discordant cases were validated as unstable by ddPCR on FFPE samples. Besides, a good overall concordance (70.27%) was obtained when comparing the performance of the ddPCR assay on UAs and cfDNA in high-risk tumors. Importantly, our results also evidenced the value of MSI analysis to monitor the disease evolution. MSI evaluation in minimally invasive samples shows great accuracy and sensitivity and provides a valuable tool for the molecular characterization and follow-up of endometrial tumors, opening new opportunities for personalized management of EC.

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