PDF(Pubmed)
Abstract：
Germline mutations of runt-related transcription factor-1 (RUNX1) cause familial platelet disorder with predisposition to myeloid malignancy (FPDMM), most commonly associated with thrombocytopenia and propensity to develop myeloid neoplasms. A key clinical question is which patients with a family history of thrombocytopenia should undergo genetic testing for RUNX1 mutations. Typically, molecular diagnosis by genetic sequencing is performed when the clinical phenotype is suggestive of this diagnosis; however, our understanding of the spectrum of associated features suggestive of this diagnosis continues to evolve. Herein, we report a case series of 3 unrelated families with RUNX1-associated FPDMM and clinical phenotypes not typically reported with this condition. These cases expand our understanding of FPDMM and highlight the complexity of transcriptional regulation of hematopoiesis and its potentially diverse phenotypes. We describe our approach to diagnosis and management of these individuals and the importance of long-term surveillance in these cases.
摘要：
runt相关转录因子-1（RUNX1）的种系突变导致家族性血小板疾病，易患髓系恶性肿瘤（FPDMM），最常见的与血小板减少症和发生髓系肿瘤的倾向有关。一个关键的临床问题是哪些有血小板减少家族史的患者应该接受RUNX1突变的基因检测。通常,当临床表型提示这种诊断时，通过基因测序进行分子诊断；然而，我们对提示该诊断的相关特征谱的理解仍在不断发展.在这里，我们报告了3个与RUNX1相关的FPDMM无关的家庭和临床表型的病例系列。这些病例扩大了我们对FPDMM的理解，并强调了造血转录调控的复杂性及其潜在的多样化表型。我们描述了我们对这些人的诊断和管理方法，以及在这些情况下长期监测的重要性。
