The landscape of cytogenetic and molecular genetic methods in diagnostics for hematologic neoplasia

Abstract

Improvements made during the last decades in the management of patients with hematologic neoplasia have resulted in increase of overall survival. These advancements have become possible through progress in our understanding of genetic basis of different hematologic malignancies and their role in the current risk-adapted treatment protocols. In this review, we provide an overview of current cytogenetic and molecular genetic methods, commonly used in the genetic characterization of hematologic malignancies, describe the current developments in the cytogenetic and molecular diagnostics, and give an outlook into their future development. Furthermore, we give a brief overview of the most important public databases and guidelines for sequence variant interpretation.

Keywords: Cytogenetic methods; Hematologic neoplasia; Lymphoid malignancies; Molecular genetic methods; Myeloid malignancies; Next generation sequencing.