Aspectos moleculares en el diagnóstico y tratamiento de los síndromes mielodisplasicos

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal disorders of hematopoietic stem cells, which are characterized by inefficient hematopoiesis, with peripheral blood cytopenia and increased risk of developing acute myeloid leukemia. Although cytogenetics continues to be a very valuable prognostic indicator, molecular genetics has begun to play an important role in the diagnosis and prognosis of the disease. The clinical behavior is variable and very unpredictable, since a third of these patients achieve a survival comparable to that expected for their age, still being carriers of the disorder; while others die within a few months of diagnosis as a result of complications related to bone marrow failure, associated or not with evolution to acute myeloid leukemia. Those who suffer this hematological disorder usually complain of fatigue, decreased tolerance to exercise, and, less frequently, bleeding, ecchymosis, recurrent bacterial infections, in addition to hepatomegaly and splenomegaly. Nowadays, there are molecular tests that allow understanding myelodysplastic syndromes, especially when choosing specific therapies depending on the mutation type identified, allowing better therapeutic responses and better prognosis of the disease.