胚系 CTC1 改变对获得性骨髓衰竭中端粒长度的影响。
Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.
机构信息
Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, P.R. China.
出版信息
Br J Haematol. 2019 Jun;185(5):935-939. doi: 10.1111/bjh.15862. Epub 2019 Mar 19.
Abstract
Compound heterozygous germline mutations in CTC1 gene have been found in patients with atypical dyskeratosis congenita (DC), whereas heterozygous carriers are unaffected. Through screening of a large cohort of adult patients with acquired bone marrow failure syndromes, in addition to a DC case, we have also found extremely rare or novel heterozygous deleterious germline variants of CTC1 in patients with aplastic anaemia (AA; n = 5), paroxysmal nocturnal haemoglobinuria (PNH; n = 3) and myelodysplastic syndrome (MDS; n = 2). A compound heterozygous case of AA showed clonal evolution. Our results suggest that some of the inherited CTC1 variants may represent predisposition factors for acquired bone marrow failure.
摘要
已在非典型先天性角化不良（DC）患者中发现 CTC1 基因的复合杂合种系突变，而杂合携带者不受影响。通过对一大群后天性骨髓衰竭综合征的成年患者进行筛选，除了一例 DC 病例外，我们还在再生障碍性贫血（AA；n=5）、阵发性夜间血红蛋白尿（PNH；n=3）和骨髓增生异常综合征（MDS；n=2）患者中发现了 CTC1 极为罕见或新型的杂合有害种系变异体。AA 的复合杂合病例显示出克隆进化。我们的结果表明，一些遗传性 CTC1 变异可能代表后天性骨髓衰竭的易感性因素。
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