Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders

IF 2.2 4区 医学 Q3 HEMATOLOGY
Amy M. Trottier , Simone Feurstein , Lucy A. Godley
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引用次数: 0

Abstract

Myeloid neoplasms with germline predisposition have been recognized increasingly over the past decade with numerous newly described disorders. Penetrance, age of onset, phenotypic heterogeneity, and somatic driver events differ widely among these conditions and sometimes even within family members with the same variant, making risk assessment and counseling of these individuals inherently difficult. In this review, we will shed light on high malignant penetrance (e.g., CEBPA, GATA2, SAMD9/SAMD9L, and TP53) versus variable malignant penetrance syndromes (e.g., ANKRD26, DDX41, ETV6, RUNX1, and various bone marrow failure syndromes) and their clinical features, such as variant type and location, course of disease, and prognostic markers. We further discuss the recommended management of these syndromes based on penetrance with an emphasis on somatic aberrations consistent with disease progression/transformation and suggested timing of allogeneic hematopoietic stem cell transplant. This review will thereby provide important data that can help to individualize and improve the management for these patients.

髓样肿瘤的基因易感性:高渗透性与可变渗透性疾病的特征与管理
在过去的十年中,随着许多新描述的疾病的出现,人们越来越认识到具有种系易感性的骨髓性肿瘤。这些疾病之间的渗透性、发病年龄、表型异质性和体细胞驱动事件差异很大,有时甚至在具有相同变异体的家族成员中也不尽相同,这使得对这些个体进行风险评估和咨询变得十分困难。在本综述中,我们将阐明高恶性穿透性(如 CEBPA、GATA2、SAMD9/SAMD9L 和 TP53)与可变恶性穿透性综合征(如 ANKRD26、DDX41、ETV6、RUNX1 和各种骨髓衰竭综合征)及其临床特征,如变异类型和位置、病程和预后标志物。我们还进一步讨论了基于渗透性的这些综合征的推荐治疗方法,重点是与疾病进展/转化一致的体细胞畸变,以及异基因造血干细胞移植的建议时机。这篇综述将提供重要数据,有助于对这些患者进行个体化治疗并改善治疗效果。
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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.
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