Blood. 2016 Oct 6;128(14):1800-1813. doi: 10.1182/blood-2016-05-670240. Epub 2016 Jul 28.
Although inherited hematopoietic malignancies have been reported clinically since the early twentieth century, the molecular basis for these diseases has only recently begun to be elucidated. Growing utilization of next-generation sequencing technologies has facilitated the rapid discovery of an increasing number of recognizable heritable hematopoietic malignancy syndromes while also deepening the field's understanding of the molecular mechanisms that underlie these syndromes. Because individuals with inherited hematopoietic malignancies continue to be underdiagnosed and are increasingly likely to be encountered in clinical practice, clinicians need to have a high index of suspicion and be aware of the described syndromes. Here, we present the methods we use to identify, test, and manage individuals and families suspected of having a hereditary myeloid malignancy syndrome. Finally, we address the areas of ongoing research in the field and encourage clinicians and researchers to contribute and collaborate.
尽管自20世纪初以来临床上就已报道了遗传性造血系统恶性肿瘤,但这些疾病的分子基础直到最近才开始得到阐明。下一代测序技术的日益广泛应用,促进了越来越多可识别的遗传性造血系统恶性肿瘤综合征的快速发现,同时也加深了该领域对这些综合征潜在分子机制的理解。由于遗传性造血系统恶性肿瘤患者仍未得到充分诊断,且在临床实践中越来越有可能遇到,临床医生需要保持高度的怀疑指数,并了解所描述的综合征。在此,我们介绍我们用于识别、检测和管理疑似患有遗传性髓系恶性肿瘤综合征的个体和家庭的方法。最后,我们讨论了该领域正在进行研究的方向,并鼓励临床医生和研究人员做出贡献并开展合作。