Rare case of myelodysplastic syndrome with near-tetraploidy and TP53 mutation

Abstract

Introduction 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.