Abstract:

Objective: Hematological malignancies are neoplasms of bone marrow-derived cells. Recent studies show that most of these malignancies contain numerical and structural chromosomal abnormalities. These specific gene-level changes are crucial at diagnosis and prognosis evaluation of these diseases. Our study aims to investigate some of these genetic changes and their effect on the etiology and prognosis of hematological malignancies. Materials and Methods: In this study, 110 patients who were admitted to the Department of Hematology of Süleyman Demirel University Faculty of Medicine with a pre-diagnosis or diagnosis of Hematologic Malignancy were included. Three different analyses applied to the cultured bone marrow tissue samples of seven groups of hematology patients who suffered from Acute Myeloid Leukemia (AML), Chronic Myeloid Leukemia (CML), Chronic Lymphoblastic Leukemia (CLL), Myelodysplastic Syndrome (MDS), Chronic Myeloproliferative Disease (CMPD), Malignant Plasma Cell Neoplasm (MPCN) and Lymphoma diseases.Numerical and structural chromosomal changes were examined by cytogenetic chromosome analysis and Fluorescent In Situ Hybridization (FISH) methods and JAK-2 V617F mutation was analyzed by Real-Time PCR (RT-PCR). Results: Some mutations were found important in particular diseases such as t(9;22) mutation for CML, t(15;17) for AML; del(5q) and del(7q) for MDS; del(13q14) and del(17p13) mutations for lymphoma, CLL and MPCN. JAK-2 V617F mutations were found effective on CMPD disease subgroups at rates changing from 43% up to 92% according to the RT-PCR results. Conclusion: As a result of our findings, we think that examining patients with hematologic malignancies in their mutations, in addition to the routinely studied existing genetic analyzes, will contribute to the evaluation of the diagnosis and prognosis of the disease.

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