Myelodysplastic/myeloproliferative neoplasm with t(2;11)(p21;q23)del(5) (q22;q33) but without mixed-lineage leukemia (MLL) rearrangement

Introduction. Myelodysplastic/myeloproliferative neoplasms represent a group of rare hematologic malignancies with concomitant characteristics two different disorders. There are cytopenias and cytoses dysplastic morphology in the circulating blood hyperplastic bone marrow, respectively. Many cytogenetic molecular features have been found this entity, but t(2;11)(p21;q23)del(5) (q22;q33) has not described so far. Case report. We present patient myelodysplastic syndrome, subtype refractory anemia without ringed sideroblasts, unique translocation t(2;11)(p21;q23) associated del(5)(q22;q33) karyotype. Fluorescence situ hybridization analysis did detect mixed-lineage leukemia (MLL) rearrangement, which can be other translocation. After year on supportive treatment packed red cells, thrombocytosis developed concurrent increase white cells Janus kinase-2 gene mutation. This confirmed presence myelodysplastic/myeloproliferative neoplasms. Due to high platelet count, cerebrovascular insult occurred. The was treated supportively lenalidomide. introducing lenalidomide steadily, patient?s condition improved, peripheral count normalized, he became transfusion independent. Conclusion. Patients finding MLL rearrangement Ja-nus mutation presence, respond therapy relatively longer overall survival.