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

BACKGROUND: In 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 differ...

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Detalles Bibliográficos
Autores: Castillo M.I., Ribate V.E., Muñoz C.M., Santillana S.G., Taboada S.E., Casterá M.E., Abinzano C.M.J., Barranco I.A., Nieto C.R., Pampliega V.M., Blanco M.L., de Andrés Á.S., de Oteyza P.J., del Castillo B.T., Font G.I., Cayuela J.A., Díez-Campelo M., Sánchez A.R., Vercet S.C., Díaz T.M.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p16911
Acceso en línea:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16911
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85164507780&doi=10.1002%2fcam4.6300&partnerID=40&md5=40d21aa265e28f7deab4ac2ed2958a8c
Access Level:acceso abierto
Palabra clave:20q deletion
U2AF1 mutations
myelodysplastic neoplasms
prognosis
quantitative allele-specific PCR
Descripción
Sumario:BACKGROUND: In 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. METHODS: Our study analyzes different molecular variables in 100 MDS patients with isolated del(20q). RESULTS & CONCLUSIONS: We 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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