Screening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, and proto-oncogene, proto-oncogene, genes of patients with myelodysplastic syndrome.

Myelodysplastic 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 (), tumor protein p53 (), and proto-oncogene and ()/ proto-oncogene, (), 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 the , and genes in 50 patients were evaluated by sequencing genomic bone marrow DNA. Nine patients (18%) presented with at least one type of mutation. Mutations in were the most frequent in six patients (12%), followed by in two patients (4%) and in 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.