Cytogenetics of Leukemias: Identifying Genetic Abnormalities with Clinical and Prognostic Significance

Introduction: The importance of cytogenetics in neoplastic processes such as leukemia is known. In 1914, Theodor Boveri suggested that chromosomal abnormalities were cellular alterations that cause the transition from normal to malignant proliferation. Over the course of several decades, different cytogenetic techniques were developed which led to the discovery of an increasingly broad spectrum of chromosomal abnormalities, resulting in a dramatic increase in the knowledge of human cancer.
Aim: This article aims to review the role of cytogenetics in leukemia, highlighting its importance for the clinical definition, treatment and prognosis of these neoplasms.
Methodology: For this, we carried out a search for scientific articles present in the electronic database PubMed, using the descriptors "Leukemia", "Cytogenetics", "Karyotype", "Fluorescent In Situ Hybridization’’, "Prognosis", "Leukemia, Lymphoid", “Leukemia, Myeloid" and "Leukemia, Chronic Lymphocytic”. Books and specialized sites were also surveyed.
Discussion: Cytogenetic analysis not only helps to confirm a diagnosis but it also aids in obtaining data on prognosis, response to treatment and possibility of relapse. The analysis provides a better understanding of the pathways involved in leukemogenesis processes and the development of new types of therapy. This information is essential for the proper management of patients, underscoring the importance of joint work between the medical oncologist/hematologist and the cytogeneticist.