Cytogenetic Analysis of Patients with Hematological Malignancies

Abstract

With this study, we aim to summarize and assess the activity and performance of the Cytogenetic sector of the Laboratory of Medical Genetics—Varna, regarding the conventional cytogenetic analysis of bone marrow samples from patients with (onco)hematological diagnoses. Another purpose is to evaluate the tendencies noticed over a period of eleven years to draw conclusions and share our experience. We have performed the analysis with the G-banding technique on 2653 samples from patients of age 0–93 yr by the current European recommendations and the International System for Human Cytogenomic Nomenclature. The greater part of these samples (90.9%) was with an indication of a hematological malignancy, most commonly Acute myeloid leukemia, Myelodysplastic syndrome, Acute lymphoid leukemia, Chronic myeloid leukemia, and Multiple myeloma. Analysis was successful in 2215 (83.5%)—from those normal karyotypes were found in 1492 (67.4%) and pathology in 723 (32.6%). Regarding the latter, the most common were complex karyotypes (30.6%), Philadelphian chromosome (21.3%), trisomy 8 (5.9%), and deletion in the long arm of chromosome 5 (4.3%). Cytogenetic analysis is a method with great impact on the evaluation of many hematological malignancies and for this reason, it remains an essential part of routine assessment of these diseases. The disadvantages of it mainly in the field of oncohematological diseases, recognized by the scientific society and confirmed in our own experience, suggest a need for an additional genetic method to overcome these limitations.