Pb2081 High Incidence of Malignancy in the Families of Patients With Myelodysplastic Syndromes

Abstract

with detectable disease (p = 0.022). Only mutations in U2AF1 were significantly associated with absence of MRD-(p = 0.035). We analyse samples from 12 patients prior to transplant in order to determine in chemotherapy is able to "clear'' somatic mutations: 8 of them were non-mutated pre HSCT and 7 had any mutated gene. We didn't found any relationship between "clearing'' of mutations and disease status prior to transplant. After a median of follow up for survivors of 4.35 years, median Overall Survival (OS) and Disease Free Survival (DFS) were 6.24 and 0.83 years, respectively. Non-muted patients had a significantly better DFS than patients with any mutation at diagnosis (83.3% vs. 21.4%, p = 0.019). Univariate analysis determined that mutational status (mutated vs. non-mutated), complex karyotype and somatic mutations in SF3B1, SRSF2 and TP53 significantly influenced on DFS. In the multivariate analysis only mutations in SRSF2 (HR 6.42) and TP53 (HR 8.77) retained their signification. Summary/Conclusion: We conclude that the presence of somatic mutations at diagnosis in patients with HR-MDS receiving intensive chemotherapy could have a significant impact on DFS and could be related with response.