Department of Human Genetics, Hannover Medical School, 30625, Hannover, Germany.
Cytogenetics Laboratory, Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Best Pract Res Clin Haematol. 2024 Mar;37(1):101539. doi: 10.1016/j.beha.2024.101539. Epub 2024 Feb 5.
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.
过去几十年中,血液系统肿瘤患者的治疗管理取得了进展,整体生存率得到提高。这些进展是通过我们对不同血液恶性肿瘤的遗传基础及其在当前风险适应治疗方案中的作用的理解的提高而成为可能的。在这篇综述中,我们提供了当前用于血液恶性肿瘤遗传特征描述的细胞遗传学和分子遗传学方法的概述,描述了细胞遗传学和分子诊断学的最新进展,并展望了它们的未来发展。此外,我们还简要介绍了最重要的公共数据库和序列变异解释指南。