Clinical and Molecular Characteristics of DDX41-Mutated Patients in a Large Cohort of Sporadic MDS/AML

Conclusions:DDX41 germline variant carriers represent a significant part of MDS/AML pts, the vast majority presenting without familial history. The predicted change in protein and/or the presence of a second somatic mutation strongly support the causality of the germline variant in most pts. By contrast with previous reports, pts frequently presented a phase of cytopenia before overt malignancy. Finally, outcome regarding response to treatment and OS in this DDX41-mutated cohort appeared relatively favorable.Figure 1.DisclosuresPeffault De Latour: Pfizer Inc.: Consultancy, Honoraria, Research Funding; Alexion Pharmaceuticals, Inc.: Consultancy, Honoraria, Research Funding; Amgen Inc.: Research Funding; Novartis: Consultancy, Honoraria, Research Funding. Fenaux: Otsuka: Honoraria, Research Funding; Jazz: Honoraria, Research Funding; Janssen: Honoraria, Research Funding; Celgene: Honoraria, Research Funding.

Source: Blood - November 21, 2018 Category: Hematology Authors: Sebert, M., Passet, M., Raimbault, A., Quentin, S., Vasquez, N., Rahme, R., Raffoux, E., Sicre De Fontbrune, F., Peffault De Latour, R., Itzykson, R., Fenaux, P., Soulier, J., Ades, L., Clappier, E. Tags: 637. Myelodysplastic Syndromes-Clinical Studies: Prognosis and Prediction Source Type: research