Cytogenetics: a reliable tool for the diagnosis and prognosis of hematological malignancies

Abstract

Aim: The current review aims to provide a holistic overview of the cytogenetic techniques used to diagnose and diagnose haematological malignancies.
 Background: Since the discovery of the Philadelphia chromosome as a sole abnormality for diagnosing chronic myeloid leukaemia, cytogenetics has been widely used to diagnose malignancies in blood. With the introduction of advanced cytogenetic techniques like Fluorescent In-Situ Hybridization, Spectral Karyotyping and Comparative Genomic Hybridization, identification of clones and monitoring the response to drug therapy has now become easy as these have overcome the challenges of conventional cytogenetics like culture failures, poor morphology of chromosomes and low mitotic index.
 Review results: Ample evidence suggests that chromosomal aberrations are critical early indicators of progressing to a hematopoietic disorder. Conventional cytogenetics augmented with molecular cytogenetic techniques, immunophenotyping and real-time PCR not only aids in identifying specific clones but also characterizes haematological malignancies, predicting and assessing the minimal residual disease status during their management.
 Conclusion: We conclude that in this era of array diagnostics, cytogenetic techniques are still reliable for accurate diagnoses, characterization and prognosis of haematological malignancies.
 Clinical Significance: The present review discusses the role of cytogenetic tools in the diagnoses and prognosis of various haematological malignancies. It also provides an insight into the technical challenges encountered while performing these studies and the considerations to overcome them.