文章：

超越体细胞变异：揭示髓系恶性肿瘤的胚系基础

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies

原文发布日期：13 January 2026

DOI: 10.3390/cancers18020240

类型: Article

开放获取: 是

英文摘要：

Myeloid neoplasms (MNs) with germline predisposition represent a distinct, increasingly recognized category in the WHO classification, encompassing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) arising in the context of an inherited genetic alteration or mutation. While often presenting at a younger age or with characteristic cytopenias with or without organ dysfunction, some can manifest in adulthood, highlighting the need for vigilance regardless of age or family history. Key predisposing genes include transcription factors (e.g.,RUNX1,CEBPA) and genes involved in RNA splicing and telomere biology disorders. Identification of these germline mutations is critical as MNs with germline predisposition dictate specific therapeutic strategies—particularly for hematopoietic stem cell transplantation (HSCT)—and require genetic counseling and surveillance for at-risk relatives. Accurate diagnosis often requires non-hematopoietic germline DNA testing, which provides important biological insights into the development of different myeloid neoplasms and directs personalized patient care.

摘要翻译： 

具有胚系易感性的髓系肿瘤是世界卫生组织分类中一个独特且日益被重视的类别，涵盖在遗传性基因改变或突变背景下发生的骨髓增生异常综合征和急性髓系白血病。这类疾病通常发病年龄较轻，或表现为特征性血细胞减少伴或不伴器官功能障碍，但部分也可在成年期显现，提示无论年龄或家族史如何均需保持警惕。关键的易感基因包括转录因子以及参与RNA剪接和端粒生物学紊乱的基因。识别这些胚系突变至关重要，因为具有胚系易感性的髓系肿瘤决定了特定的治疗策略——尤其是造血干细胞移植——并需要对高危亲属进行遗传咨询和监测。准确诊断通常需要非造血系统的胚系DNA检测，这为不同髓系肿瘤的发展提供了重要的生物学见解，并指导个体化的患者管理。

原文链接：

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies