Evaluation of conventional cytogenetic, molecular cytogenetics and molecular genetics results in hematological malignances

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.

Keywords

• Hematological malignancies
• conventional cytogenetics
• molecular cytogenetics
• molecular genetics

Hematolojik malignitelerde konvansiyonel sitogenetik, moleküler sitogenetik ve moleküler genetik sonuçlarının değerlendirilmesi

Abstract

Amaç: Hematolojik maligniteler, kemik iliği kaynaklı hücrelerin neoplazmalarıdır. Son çalışmalar, bu malignitelerin çoğunun sayısal ve yapısal kromozomal anormallikler içerdiğini göstermektedir. Spesifik gen düzeyindeki değişiklikler, bu hastalıkların tanı ve prognoz değerlendirmesinde çok önemlidir. Çalışmamız, bu genetik değişikliklerin bir kısmını ve bunların hematolojik malignitelerin etiyolojisi ve prognozu üzerindeki etkilerini araştırmayı amaçlamaktadır. Gereç ve Yöntem: Bu çalışmaya Süleyman Demirel Üniversitesi Tıp Fakültesi Hematoloji Anabilim Dalı'na hematolojik malignite ön tanısı veya tanısı ile başvuran 110 hasta dahil edildi. Akut Miyeloid Lösemi (AML), Kronik Miyeloid Lösemi (CML), Kronik Lenfoblastik Lösemi (CLL), Miyelodisplastik Sendrom (MDS), Kronik Miyeloproliferatif ( CMPD), Malign Plazma Hücreli Neoplazm (MPCN) ve Lenfoma hastalıklarına sahip yedi grubun kemik iliği kültürleri yapılarak üç farklı analiz yöntemi ile incelendi. Sayısal ve yapısal kromozomal değişiklikler sitogenetik kromozom analizi ve Floresan In Situ Hibridizasyon (FISH) yöntemleri ile incelendi ve JAK-2 V617F mutasyonu Real-Time PCR (RT-PCR) ile analiz edildi. Bulgular: CML için t (9; 22) mutasyonu, AML için t (15; 17); MDS için del (5q) ve del (7q); lenfoma, CLL ve MPCN için del (13q14) ve del (17p13) mutasyonlarının etkili olduğu bulundu. Ayrıca RT-PCR sonuçlarına göre JAK-2 V617F mutasyonları, CMPD hastalığı alt gruplarında% 43'ten% 92'ye değişen oranlarda etkili bulunmuştur. Sonuç: Elde ettiğimiz bulgular ışığında, hematolojik malignensili hastaların rutinde çalışılan mevcut genetik analizlerine ek olarak belirlediğimiz mutasyonlarında incelenmesinin hastalığın tanı ve prognozunun değerlendirilmesine katkıda bulunacağını düşünmekteyiz.

Keywords

• Hematolojik malignite
• konvansiyonel sitogenetik
• moleküler sitogenetik
• moleküler genetik

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