Incidence and prognostic impact of U2AF1 mutations and other gene alterations in myelodysplastic neoplasms with isolated 20q deletion
Castillo MI, Ribate VE, Muñoz CM, Santillana SG, Taboada SE, Casterá ME, Abinzano CMJ, Barranco IA, Nieto CR, Pampliega VM, Blanco ML, de Andrés ÁS, de Oteyza PJ, Del Castillo BT, Granada I, Cayuela JA, Díez-Campelo M, Sánchez AR, Vercet SC, Díaz TM; Grupo Español de Síndromes Mielodisplásicos (GESMD).
CANCER MED-US
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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