Fluorescence in situ hybridization: diagnostic tool for hematological malignancies

摘要

Introduction: hematological neoplasias have clonal origin and are characterized by great genetic heterogeneity. The development of molecular cytogenetic through fluorescence in situ hybridization (FISH) became a major advance in the cytogenetic diagnosis of these neoplasias. Aim: to describe chromosomal abnormalities detected in patients with hematological malignancies after the introduction of this technique. Methods: a descriptive cross-sectional study of patients with hematological malignancies was performed. Their bone marrow samples were processed at the Laboratory of Cytogenetics of the Institute of Hematology and Immunology, between July 2014 and April 2015. FISH technique was used along with various fluorescent probes. Results: 87 samples were studied. With LSI BCR / ABL probe, 18 samples were positive of chronic myeloid leukemia and 8 patients with diagnostic of acute lymphoblastic leukemia were negative. With PML/RARα probe 17 samples of patients with promyelocytic leukemia were labeled, 10 were positive. Eight samples were labeled with probe RUNX1 / RUNX1T1, one was positive. Two samples for LSI probes labeled RB1 (13q14) and one with LSI TP53 (17p13.1) were negative. One positive case 7q31 deletion was observed. Conclusions: despite the sample is small, we consider it important to report our first results as evidence of the incorporation of the FISH technique at the IHI, which constitutes a new tool for the diagnosis, prognosis and monitoring of hematological malignances.