Impacto clínico de las aberrancias inmunofenotípicas y perfil mutacional en síndromes mielodisplásicos

Resum

The myelodysplastic syndromes (MDS) are a heterogeneous group of clinical entities. Cytomorphology and cytogenetics are standard for the study of patients with suspected MDS. However, there are still difficulties in establishing the diagnosis of MDS, especially in samples with a single cytopenia, without excess blasts. Cytogenetic abnormalities are a key prognostic factor and support at the time of diagnosis, although there are only changes in 30-50% of patients. Nowadays, new diagnostic tools (flow cytometry and molecular biology) can contribute not only diagnosis but also prognosis in patients with MDS. OBJECTIVE Develop a methodology for flow cytometry immunophenotyping that allows us to make the differential diagnosis between MDS patients with cytopenias of other sources. Evaluate the applicability of the next generation sequencing and high sensitivity (NGS) for molecular diagnosis and prognosis of patients with MDS. PATIENTS AND METHODS For immunophenotyping analysis by flow cytometry, 55 patients diagnosed of MDS, and 51 controls with cytopenias of several origins (immune, hypersplenism, drug toxicity) were selected. The recommendations of the working group from the European LeukemiaNet were applied to assess dysplasia by flow cytometry in different populations: myeloid blasts, lymphoid blasts, granulocytic, monocytic and erythroid cells. Furthermore, a database was designed for myeloid maturation using the Infinicyt® software...