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RARE CHROMOSOMAL ALTERATIONS IN PEDIATRIC MYELODYSPLASTIC SYNDROME
- Viviane L. Lovatel (Brazil)
Abstract
Background and Aims
Background and aims: Pediatric myelodysplastic syndromes (p-MDS) are clonal disorders of hematopoietic stem cells characterized by ineffective hematopoiesis leading to blood cytopenias and a high incidence of progression to acute myeloid leukemia (AML). Pediatric MDS has a variable clinical course and a difficult to diagnose. In this sense, cytogenetic analysis has an essential role in diagnosis, classification, and prognosis. Abnormal karyotypes are present in 50-70% of p-MDS, presenting mainly chromosomal losses and gains. The chromosome 7 monosomy is the most frequent alteration, associated with poor prognosis. However, there are rare cytogenetic alterations which its prognosis is still unknown. The aim of this study was to investigate uncommon cytogenetic alterations in p-MDS and correlate the clinical outcome.
Methods
Methods: The cytogenetic analyses were performed by GTG banding and fluorescence in situ hybridization (FISH).
Results
Results: We studied 200 p-MDS between 1996 and 2022 in a Brazilian single institution. Hyperdiploid karyotypes were observed in five children (2.5%): one had refractory cytopenia of children (RCC), three MDS with excess of blasts (MDS-EB), and one with MDS-EB in transformation (MDS-EB-t). Biclonal alterations were presented in four patients (2%): three had RCC and one MDS-EB. Chromosome translocations were identified in two patients (1%). The t(4;7)(p16,p15) and t(5;8)(q32,q22) were presented in MDS-EB-t with evolution to AML. All patients with these rare alterations presented a poor prognosis and were indicated for hematopoietic stem cell transplantation (HSCT).
Conclusions
Conclusions: The study of rare cytogenetic alterations in p-MDS is important to aid in the prognosis and early indication of HSCT.