Genetic alterations in myeloproliferative and myelodysplastic/myeloproliferative neoplasms – a practical guide to WHO-HAEM5

IF 0.8 4区生物学 Q4 GENETICS & HEREDITY

Medizinische Genetik Pub Date : 2024-03-04 DOI:10.1515/medgen-2024-2003

Constanze Kühn, Katharina Hörst, Hans M. Kvasnicka, A. Hochhaus, Andreas Reiter

引用次数: 0

Abstract

Within the World Health Organization (WHO) classification of haematopoietic neoplasms, particularly its fifth version from 2022 (WHO-HAEM5), myeloid neoplasms are not only grouped into myeloproliferative (MPN) and myelodysplastic neoplasms (MDS). There is also a group of haematological disorders that share features of both categories termed myelodysplastic /myeloproliferative neoplasms (MDS/MPN). In this article, we aim to provide a comprehensive and practical guide to WHO-HAEM5 highlighting the genetic alterations that underlie MPN and MDS/MPN. This guide provides an overview of the overlapping commonalities among these entities, as well as their unique characteristics.

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骨髓增生性和骨髓增生异常/骨髓增生性肿瘤的基因改变--WHO-HAEM5实用指南

在世界卫生组织（WHO）的造血肿瘤分类中，尤其是在 2022 年的第五版（WHO-HAEM5）中，骨髓肿瘤不仅分为骨髓增生性肿瘤（MPN）和骨髓增生异常肿瘤（MDS）。还有一类血液病同时具有这两类疾病的特征，被称为骨髓增生异常/骨髓增生性肿瘤（MDS/MPN）。本文旨在提供一份全面实用的 WHO-HAEM5 指南，重点介绍骨髓增生性疾病和骨髓增生异常/骨髓瘤的基因改变。本指南概述了这些实体之间的重叠共性及其独特性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Medizinische Genetik Medicine-Genetics (clinical)

CiteScore

1.40

自引率

9.10%

发文量

审稿时长

>12 weeks

期刊介绍： medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.