The Mutation Profile of Myelodysplastic Syndrome Associated with Auto-Immune Rheumatological Disorders

Conclusions: In a large multi-institutional cohort of autoimmune rheumatological disorders, 1.3% patients developed persistent cytopenia with 0.3% diagnosed with MDS. This is significantly higher than incidence of MDS in the general population (30-50/100,000). Similarly, 5% MDS patients had AIRD. The mutation profile of MDS patients with AIRD shows higher frequency of IDH1 and SRSF2 mutations. A small proportion of cases also had deleterious rare germline mutations in the DNA repair pathway. Our findings warrant further study and have potential implications for selection of immunosupressive agents for AIRD.DisclosuresHiwase: Novartis: Research Funding; Celgene: Research Funding.

Source: Blood - November 21, 2018 Category: Hematology Authors: Hong, L. E., Singhal, D., Wee, A., Chhetri, R., Wechalekar, M. D., Proudman, S., Hiwase, D. K. Tags: 636. Myelodysplastic Syndromes-Basic and Translational Studies: Poster II Source Type: research