Incidence and prognostic impact of <i>U2AF1</i> mutations and other gene alterations in myelodysplastic neoplasms with isolated 20q deletion

BackgroundIn myelodysplastic neoplasms (MDS), the 20q deletion [del(20q)] is a recurrent chromosomal abnormality that it has a high co-occurrence with U2AF1 mutations. Nevertheless, the prognostic impact of U2AF1 in these MDS patients is uncertain and the possible clinical and/or prognostic differen...

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Detalles Bibliográficos
Autores: Castillo, MI, Ribate, VE, Munoz, CM, Santillana, SG, Taboada, SE, Castera, ME, Abinzano, CMJ, Barranco, IA, Nieto, CR, Pampliega, VM, Blanco, ML, de Andres, AS, de Oteyza, PJ, del Castillo, BT, Font, GI, Cayuela, JA, Diez-Campelo, M, Sanchez, AR, Vercet, SC, Diaz, TM
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:INCLIVA
Repositorio:r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
OAI Identifier:oai:incliva.fundanetsuite.com:p17656
Acceso en línea:https://incliva.portalinvestigacion.com/publicaciones/17656
Access Level:acceso abierto
Palabra clave:20q deletion
myelodysplastic neoplasms
prognosis
quantitative allele-specific PCR
U2AF1 mutations
Descripción
Sumario:BackgroundIn myelodysplastic neoplasms (MDS), the 20q deletion [del(20q)] is a recurrent chromosomal abnormality that it has a high co-occurrence with U2AF1 mutations. Nevertheless, the prognostic impact of U2AF1 in these MDS patients is uncertain and the possible clinical and/or prognostic differences between the mutation type and the mutational burden are also unknown. MethodsOur study analyzes different molecular variables in 100 MDS patients with isolated del(20q). Results & ConclusionsWe describe the high incidence and negative prognostic impact of U2AF1 mutations and other alterations such as in ASXL1 gene to identify prognostic markers that would benefit patients to receive earlier treatment.

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