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

IF 2.2 4区 医学 Q3 HEMATOLOGY Best Practice & Research Clinical Haematology Pub Date : 2024-03-01 DOI:10.1016/j.beha.2024.101539
Yvonne Lisa Behrens , Stefan Pietzsch , Željko Antić , Yanming Zhang , Anke K. Bergmann
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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.

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血液肿瘤诊断中细胞遗传学和分子遗传学方法的前景
过去几十年来,血液肿瘤患者的治疗水平不断提高,总生存率也随之增加。这些进步得益于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性治疗方案中的作用的深入了解。在这篇综述中,我们概述了目前常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,介绍了细胞遗传学和分子诊断的最新发展,并对其未来发展进行了展望。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读指南。
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来源期刊
CiteScore
4.20
自引率
0.00%
发文量
42
审稿时长
35 days
期刊介绍: Best Practice & Research Clinical Haematology publishes review articles integrating the results from the latest original research articles into practical, evidence-based review articles. These articles seek to address the key clinical issues of diagnosis, treatment and patient management. Each issue follows a problem-orientated approach which focuses on the key questions to be addressed, clearly defining what is known and not known, covering the spectrum of clinical and laboratory haematological practice and research. Although most reviews are invited, the Editor welcomes suggestions from potential authors.
期刊最新文献
Editorial Board From clones to immunopeptidomes: New developments in the characterization of permissive HLA-DP mismatches in hematopoietic cell transplantation Relevance of donor-specific HLA antibodies in hematopoietic cell transplantation HLA structure and function in hematopoietic-cell transplantation Special issue 37.3: “Genetics and function of HLA and immune-related genes in hematopoietic cell transplantation and cellular immunotherapy”
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