PDF(Pubmed)
Abstract：
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 ADH5/ALDH2, DNAJC21, ERCC6L2 and MECOM. This will provide important data that may help to individualize and improve care for these patients.
摘要：
遗传性骨髓衰竭（BMF）综合征在遗传上是多样化的-超过100个基因与这些综合征相关，并且列表正在迅速扩大。最近发现的BMF综合征患者的风险评估和遗传咨询本质上是困难的，因为疾病机制，外显率,基因型-表型关联，表型异质性，血液系统恶性肿瘤的风险和疾病进展的克隆标志物未知或不清楚.这篇综述旨在以稀疏简洁的数据阐明最近描述的BMF综合征，并强调与ADH5/ALDH2，DNAJC21，ERCC6L2和MECOM中的种系变异相关的那些。这将提供重要的数据，可能有助于个性化和改善这些患者的护理。
