Čolović, Nataša (6701607753)Nataša (6701607753)ČolovićĐorđević, Vesna (16244663800)Vesna (16244663800)ĐorđevićRadojković, Milica (57197430605)Milica (57197430605)RadojkovićKaran-đurašević, Teodora (14035922800)Teodora (14035922800)Karan-đuraševićTošić, Nataša (15729686900)Nataša (15729686900)Tošić2025-06-122025-06-122023https://doi.org/10.2298/SARH230728100Chttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85184908301&doi=10.2298%2fSARH230728100C&partnerID=40&md5=df88870da31f6fb24fc3fb4c21e3be1fhttps://remedy.med.bg.ac.rs/handle/123456789/2902Introduction Chromosomal numerical aberrations are very common in hematological malignancies, but near-tetraploidy (80–104 chromosomes) is rare in myeloid lineage malignancies, with only a few cases reported in myelodysplastic syndrome (MDS). Due to a small number of cases with this rare cytogenetic abnormality, clinicopathological significance of near-tetraploidy in MDS is still unknown. In this case report we present a case of de novo MDS patient with near-tetraploidy in association with TP53 mutation, and we aimed to elucidate the prognostic significance of this rare genetic feature. Case outline In August of 2018, a 71-year-old male presented with severe anemia, thrombocytopenia, leu-copenia, and enlarged spleen. Laboratory data were as follows: hemoglobin (Hb) 93 g/L, white blood cells 2.8 × 109/L and platelets 23 × 109/L. The bone marrow aspirate was hypercellular, megakaryocytes were not found, 15% of granulocytic cells were with signs of dysplasia, and 16% of blast cells without Auer rods. The finding was in correlation with diagnosis of MDS, type refractory anemia with excess blasts 2 which was also confirmed by immunophenotyping. Cytogenetic finding was near-tetraploidy (48,XY+mar[10]/92,XXYY[10]), and TP53 mutational analysis showed the presence of mutation in exon 8 (p.D281A; c.842 A > C). The patient received from time to time packed red blood cells and platelets, and died four months after initial diagnosis. Conclusion Near-tetraploidy associated with TP53 mutation has been described in only a few MDS cases. Results of these reports including ours suggest that the association of TP53 mutation and near-tetra polyploidy is a poor prognostic factor. © 2023, Serbia Medical Society. All rights reserved.myelodysplastic syndromenear-tetraploidyprognosisTP53 mutation