Usefulness of Peripheral Blood Samples in Diagnosis and Prognosis Assessment of Myelodysplastic Syndromes and Chronic Myelomonocytic Leukemia Low Risk Patients Using Next Generation Sequencing

Introduction: myelodysplastic syndromes (MDS) are a heterogeneous group of hematological diseases. Morphologic bone marrow (BM) examination, cytogenetic analysis and molecular techniques are indispensable for accurate diagnosis and disease classification. BM constitutes the most suitable sample for molecular studies, however, peripheral blood (PB) can be obtained by minimally invasive venipuncture and would be ideal for comprehensive sequential monitoring of MDS over time. Aim: to assess whether targeted deep sequencing (TDS) allows the detection of somatic variants from diagnosis and follow-up PB samples and if the molecular profiles are comparable to those from BM samples.