Cytogenetic analysis of patients with hematological malignancies

Abstract Cytogenetic analysis has been a part of the routine assessment of patients with haematological malignancies for several decades. We aim to summarize and assess the activity and performance of the Cytogenetic sector of the Laboratory of Medical Genetics – Varna, in regards to conventional cytogenetic analysis of bone marrow samples from patients with various haematological diagnoses. Another purpose is to evaluate the tendencies noticed over a period of eleven years in order to draw conclusions and share our experience.We performed retrospective analysis on all bone-marrow-derived samples in our centre during the period 2010-2020. We evaluated 2,653 results in total from patients of age 0-93 years. Samples were stained with the G-banding technique in accordance with the current European recommendations and the International System for Human Cytogenomic Nomenclature. A statistical analysis of tendencies over time was performed with the use of GraphPad Prism (v. 8.3.0).Haematological malignancy was the most frequent indication (90.9%) with predominance of acute myeloid leukaemia, myelodysplastic syndrome, acute lymphoid leukaemia, chronic myeloid leukaemia, and multiple myeloma. Analysis was successful in 2,215 (83.5%) - from those normal karyotype was found in 1492 (67.4%), and pathology - in 723 (32.6%). Regarding the latter, most common were complex karyotype (29.9%), Philadelphian chromosome (21%), trisomy 8 (6.1%) and deletion of the long arm of chromosome 5 (4.4%).The method holds a great influence over the evaluation of haematological malignancies and thus it remains an essential part of standard work-up of these diseases. The scientific society recognizes the disadvantages of cytogenetic analysis; as our own experience also confirms, an additional genetic method of greater resolution capacity is needed.