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.
Br J Haematol. 2019 Jun;185(5):935-939. doi: 10.1111/bjh.15862. Epub 2019 Mar 19.
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.
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。
