Browsing by Author "Stamatovic, Dragana (6602784033)"

De novo AMLs with typical nonrandom chromosomal abnormalities are often associated with specific morphology subtypes. The t(8;21) is one of the most prominent recurrent cytogenetic aberrations (RCA) in AML, frequently associated with AML with maturation, and is characterized as a good prognostic marker. On the contrary, BCR::ABL1 rearrangement is rarely observed in AMLs, without specific morphology, carrying poor prognosis. Its distinction from blastic transformation of chronic myeloid leukemia has been a matter of long debate. The revised WHO classification (2016) recognized AML with BCR::ABL1+ as a provisional entity. The occurrence of additional cytogenetic aberrations in AML RCA within the same leukemic clone has been detected, albeit rare cases of BCR::ABL1+ were reported, mainly as subclones. Those additional cytogenetic and molecular findings seem to significantly affect patient prognosis. Conventional cytogenetic analysis, fluorescent in situ hybridization (FISH), and polymerase chain reaction (PCR) were applied at presentation and during the follow-up of the patient. We present a 34-year-old male patient with de novo AML harboring concomitant t(8;21) and t(9;22) in a single clone. The presence of both t(8;21) and Philadelphia chromosome (Ph+) in the same metaphases but in less than 100% of the analyzed cells, the p190 BCR::ABL transcript type, and absence of splenomegaly support that additional BCR::ABL1+ is a part of the main leukemic clone. These findings, accompanied with an encouraging outcome of continuous cytogenetic and molecular remission after induction therapy, support BCR::ABL1 being a secondary genetic event in AML with t(8;21). © 2022, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Introduction. 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.