The Role of Cytogenetic Methods in the Diagnosis of Haematological DiseasesCorrespondence Address :
Dr. Ashutosh Joshi,
Postgraduate Resident, Department of PSM/Community Medicine,
Gajra Raja Medical College, Gwalior-474009, Madhya Pradesh, India.
Introduction: Conventional cytogenetics by the use of standard karyotyping allows the study of numerical and structural chromosomal aberrations. Haematological malignancies include a number of cancer types that originate in the blood cells of the bone marrow or of the lymphatic system. Cytogenetic methods are traditionally used for the sake of diagnosis and prognosis of these diseases. However, with the ever more frequent use of molecular methods in the diagnostic laboratories, the importance of the conventional cytogenetic analysis in the diagnosis of haematological diseases needs to be reassessed.
Aim: To evaluate the role of cytogenetic methods in the diagnosis of haematological malignancies.
Materials and Methods: A retrospective analysis of cytogenetic findings of 146 patients with various haematological malignancies was performed. All of the findings were made over a period of three years at the Centre for Genetics at the Medical Faculty of the University of Sarajevo in Bosnia and Herzegovina. Microsoft Excel 2019 was used for the analysis and presentation of data in the form of tables and graphs.
Results: The results of the present study showed that the use of conventional cytogenetic analysis is a good diagnostic method for 50.68% (74) of patients in whom chromosomal aberrations were detected.
Conclusion: Cytogenetics remains the most comprehensive method for assessing chromosomal abnormalities due to its ability to detect clinically relevant aneuploidies and additional cytogenetic abnormalities that cannot be detected by locus-specific assays.
Cytogenetics, Chromosomal aberrations, Diagnostics
Date of Submission: Jan 26, 2021
Date of Peer Review: Mar 30, 2021
Date of Acceptance: May 01, 2021
Date of Publishing: Jun 01, 2021
• Financial or Other Competing Interests: None
• Was Ethics Committee Approval obtained for this study? No
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. NA
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