Čolovic, Nataša (6701607753)Nataša (6701607753)ČolovicDenčić-Fekete, Marija (15836938800)Marija (15836938800)Denčić-FeketeStamatovic, Dragana (6602784033)Dragana (6602784033)StamatovicLekovic, Danijela (36659562000)Danijela (36659562000)LekovicGotic, Mirjana (7004685432)Mirjana (7004685432)Gotic2025-06-122025-06-122021https://doi.org/10.2298/VSP190127011Chttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85103319961&doi=10.2298%2fVSP190127011C&partnerID=40&md5=947a84a85fc8e888a4208016700c93b8https://remedy.med.bg.ac.rs/handle/123456789/4552Introduction. Myelodysplastic/myeloproliferative neoplasms represent a group of rare hematologic malignancies with con-comitant characteristics of two different disorders. There are cytopenias and cytoses with dysplastic morphology in the circu-lating blood and hyperplastic bone marrow, respectively. Many cytogenetic and molecular features have been found in this rare entity, but t(2;11)(p21;q23)del(5) (q22;q33) has not been de-scribed so far. Case report. We present a patient with myelo-dysplastic syndrome, subtype refractory anemia without ringed sideroblasts, with unique translocation t(2;11)(p21;q23) associ-ated with del(5)(q22;q33) in the karyotype. Fluorescence in situ hybridization analysis did not detect mixed-lineage leukemia (MLL) rearrangement, which can be found in other hematolog-ic malignancies with this translocation. After a year on support-ive treatment with packed red cells, thrombocytosis developed with a concurrent increase in white blood cells and the Janus kinase-2 gene mutation. This confirmed the presence of myel-odysplastic/myeloproliferative neoplasms. Due to the high platelet count, the cerebrovascular insult has occurred. The pa-tient was treated supportively and with lenalidomide. After in-troducing the lenalidomide steadily, the patient's condition im-proved, the peripheral blood count normalized, and he became transfusion independent. Conclusion. Patients with the cyto-genetic finding of t(2;11)(p21;q23) associated with del(5)(q22;q33) but without MLL rearrangement and with Ja-nus kinase-2 gene mutation presence, respond to lenalidomide therapy and have relatively longer overall survival. © 2021 Inst. Sci. inf., Univ. Defence in Belgrade. All rights reserved.Antineoplastic agentsJanus kinase-2LenalidomideMutationMyelodysplastic syndromeMyeloproliferative disordersThrombocytosisTreatment outcome