O autor pode arquivar a versão/PDF do editor, estando sujeito às restrições abaixo Restrições: 6 meses de embargo Condições gerais: Tem de ser utilizada a versão/PDF do editor - On Institutional Repository or Funder's repositoryMyelodysplastic syndrome (MDS) is a heterogeneous group of clonal bone marrow disorders characterized by ineffective hematopoiesis, different degrees of cellular dysplasia, and increased risk of progression to acute myeloid leukemia. International Prognostic Scoring System is the gold standard for MDS classification; however, patients exhibiting different clinical behaviors often coexist in the same group, indicating that the currently available scoring systems are insufficient. The genes that have recently been identified as mutated in MDS, including additional sex combs like 1, transcriptional regulator (ASXL1), tumor protein p53 (TP53), andKRASproto-oncogene andGTPase(KRAS)/NRASproto-oncogene,GTPase(NRAS), may contribute to a more comprehensive classification, as well as to the prognosis and progression of the disease. In the present study, the mutations in theASXL1,TP53andNRAS/KRASgenes in 50 patients were evaluated by sequencing genomic bone marrow DNA. Nine patients (18%) presented with at least one type of mutation. Mutations inTP53were the most frequent in six patients (12%), followed byASXL1in two patients (4%) andNRASin one patient (2%). The nine mutations were detected in patients with low- and high-risk MDS. The screening of mutations in MDS cases contributes to the application of personalized medicine.