Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.

Yen-Chun Liu, Mohammad K Eldomery, Jamie L Maciaszek, Jeffery M Klco
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Abstract

Myeloid neoplasms with and without preexisting platelet disorders frequently develop in association with an underlying germline predisposition. Germline alterations affecting ANKRD26, CEBPA, DDX41, ETV6, and RUNX1 are associated with nonsyndromic predisposition to the development of myeloid neoplasms including acute myeloid leukemia and myelodysplastic syndrome. However, germline predisposition to myeloid neoplasms is also associated with a wide range of other syndromes, including SAMD9/9L associated predisposition, GATA2 deficiency, RASopathies, ribosomopathies, telomere biology disorders, Fanconi anemia, severe congenital neutropenia, Down syndrome, and others. In the fifth edition of the World Health Organization (WHO) series on the classification of tumors of hematopoietic and lymphoid tissues, myeloid neoplasms associated with germline predisposition have been recognized as a separate entity. Here, we review several disorders from this WHO entity as well as other related conditions with an emphasis on the molecular pathogenesis of disease and accompanying somatic alterations. Finally, we provide an overview of establishing the molecular diagnosis of these germline genetic conditions and general recommendations for screening and management of the associated hematologic conditions.

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髓样肿瘤的遗传倾向:发病机制和临床意义。
伴有或不伴有先天性血小板紊乱的髓样肿瘤常常与潜在的种系易感性有关。影响 ANKRD26、CEBPA、DDX41、ETV6 和 RUNX1 的种系改变与髓系肿瘤(包括急性髓系白血病和骨髓增生异常综合征)的非综合征易感性有关。然而,髓样肿瘤的种系易感性还与其他多种综合征有关,包括 SAMD9/9L 相关易感性、GATA2 缺乏症、RAS 病、核糖体病、端粒生物学紊乱、范可尼贫血症、严重先天性中性粒细胞减少症、唐氏综合征等。在世界卫生组织(WHO)关于造血和淋巴组织肿瘤分类的第五版系列中,与种系易感性相关的髓系肿瘤已被确认为一个独立的实体。在此,我们回顾了世界卫生组织这一实体中的几种疾病以及其他相关疾病,重点是疾病的分子发病机制和伴随的体细胞改变。最后,我们概述了如何对这些种系遗传病进行分子诊断,并对相关血液病的筛查和管理提出了一般性建议。
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来源期刊
CiteScore
62.60
自引率
0.00%
发文量
40
期刊介绍: The Annual Review of Pathology: Mechanisms of Disease is a scholarly journal that has been published since 2006. Its primary focus is to provide a comprehensive overview of recent advancements in our knowledge of the causes and development of significant human diseases. The journal places particular emphasis on exploring the current and evolving concepts of disease pathogenesis, as well as the molecular genetic and morphological changes associated with various diseases. Additionally, the journal addresses the clinical significance of these findings. In order to increase accessibility and promote the broad dissemination of research, the current volume of the journal has transitioned from a gated subscription model to an open access format. This change has been made possible through the Annual Reviews' Subscribe to Open program, which allows all articles published in this volume to be freely accessible to readers. As part of this transition, all articles in the journal are published under a Creative Commons Attribution (CC BY) license, which encourages open sharing and use of the research.
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