Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
Br J Haematol. 2021 May;193(3):669-673. doi: 10.1111/bjh.16997. Epub 2020 Aug 3.
Dyskeratosis Congenita (DKC) is a systemic disorder caused by mutations resulting in impaired telomere maintenance. Clinical features include bone marrow failure and an increased risk of developing hematological malignancies. There are conflicting data whether androgen derivatives (AD) can elongate telomeres in vivo and whether AD treatment enhances the risk of gaining myelodysplastic syndrome-related mutations. Seven TERC or TERT-mutated DKC patients underwent AD treatment. All patients revealed hematological response. Telomere length of lymphocytes and granulocytes increased significantly and no MDS-related mutations were detected. Pending longer follow-up, treatment with AD seems to represent an efficient and safe therapy for DKC patients.
先天性角化不良症（DKC）是一种由基因突变引起的系统性疾病，导致端粒维持受损。临床特征包括骨髓衰竭和发展血液系统恶性肿瘤的风险增加。关于雄激素衍生物（AD）是否能在体内延长端粒，以及 AD 治疗是否会增加获得骨髓增生异常综合征相关突变的风险，存在相互矛盾的数据。7 名 TERC 或 TERT 突变的 DKC 患者接受 AD 治疗。所有患者均出现血液学反应。淋巴细胞和粒细胞的端粒长度显著增加，未检测到 MDS 相关突变。在更长时间的随访中，AD 治疗似乎代表了 DKC 患者的一种有效且安全的治疗方法。
