PDF(Pubmed)
Abstract：
Germline RUNX1 mutations lead to a rare form of autosomal-dominant familial thrombocytopenia with a predisposition for myeloid malignancies and are classified as distinct entities by the WHO. We report a case of B lymphoblastic leukemia developing in a patient with a familial RUNX1 mutation, which is a first in the literature. An FLT3-ITD mutation as well as a balanced chromosomal translocation t(1;7) was present at the time of diagnosis of leukemia, favoring the theory that additional hits or mutations are necessary for malignant transformation in patients with a germline RUNX1 mutation. The transformed disease runs an aggressive course compared to the same malignancy associated with a somatic RUNX1 mutation. Additionally, family members should be screened for the mutation, followed up clinically if they carry the mutation, and should not be used as stem cell donors to treat the affected relatives.
摘要：
种系RUNX1突变导致罕见形式的常染色体显性遗传性家族性血小板减少症，易患髓样恶性肿瘤，并被WHO分类为不同实体。我们报告了一例家族性RUNX1突变的B淋巴细胞白血病，这是文献中的第一个。在诊断白血病时存在FLT3-ITD突变以及平衡的染色体易位t（1;7）。支持有种系RUNX1突变患者的恶性转化需要额外的命中或突变的理论。与与体细胞RUNX1突变相关的相同恶性肿瘤相比，转化的疾病具有侵袭性。此外,应该对家族成员进行突变筛查，如果他们携带突变，进行临床随访，并且不应用作干细胞供体来治疗受影响的亲属。
