Usefulness of classic cytogenetic testing compared to fluorescence in situ hybridization in genetic diagnosis of 58 patients with myelodysplastic syndromes

Introduction Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal diseases of pluripotent hematopoietic stem or progenitor cells. MDS are characterized by ineffective hematopoiesis, increased apoptosis, peripheral blood cytopenias, and propensity to evolve into acute myelogenous leukemia. Objectives The aim of our investigation was to compare the usefulness of classic cytogenetics and fluorescence in situ hybridization (FISH) to detect chromosome aberrations in myelodysplastic syndromes. Patients and methods The study was carried out in a group of 58 patients with MDS. G-banding using trypsin and Giemsa (GTG banding) and FISH with a panel of five molecular probes for aberrations with prognostic significance in MDS (cen7/8, 5q31, 7q22/q35, 17p13, 20q13.3) were performed on bone marrow cells. Results The use of GTG technique allowed to detect chromosome aberrations in 25 (43.1%) subjects. However, the additional use of FISH showed the presence of aberrations also in additional 10 (17.2%) patients, which shifted 11 patients from one cytogenetic category to another. Conclusions The use of FISH with MDS probe panel beside classic cytogenetics improves detection of chromosome aberrations, and also stratification of MDS patients to prognostic groups. Both methods should be used simultaneously in every genetically diagnosed MDS patient.