Feurstein Simone
Department of Internal Medicine, Section of Hematology, Oncology & Rheumatology, University Hospital Heidelberg, Heidelberg, Germany.
Front Oncol. 2023 Apr 6;13:1128533. doi: 10.3389/fonc.2023.1128533. eCollection 2023.
Inherited bone marrow failure (BMF) syndromes are genetically diverse - more than 100 genes have been associated with those syndromes and the list is rapidly expanding. Risk assessment and genetic counseling of patients with recently discovered BMF syndromes is inherently difficult as disease mechanisms, penetrance, genotype-phenotype associations, phenotypic heterogeneity, risk of hematologic malignancies and clonal markers of disease progression are unknown or unclear. This review aims to shed light on recently described BMF syndromes with sparse concise data and with an emphasis on those associated with germline variants in , , and . This will provide important data that may help to individualize and improve care for these patients.
遗传性骨髓衰竭（BMF）综合征在遗传上具有多样性——超过100个基因与这些综合征相关，且这个名单正在迅速扩大。对最近发现的BMF综合征患者进行风险评估和遗传咨询本质上具有难度，因为疾病机制、外显率、基因型-表型关联、表型异质性、血液系统恶性肿瘤风险以及疾病进展的克隆标志物均未知或不明确。本综述旨在以稀疏简洁的数据阐明最近描述的BMF综合征，并重点关注与 、 、 和 种系变异相关的综合征。这将提供重要数据，可能有助于为这些患者提供个性化治疗并改善护理。
