Androgen derivatives improve blood counts and elongate telomere length in adult cryptic dyskeratosis congenita

被引：23

作者：

Kirschner, Martin ^{[1
]}

Vieri, Margherita ^{[1
]}

Kricheldorf, Kim ^{[1
]}

Ferreira, Monica S. Ventura ^{[1
]}

Wlodarski, Marcin W. ^{[2
,3
]}

Schwarz, Michaela ^{[4
]}

Balabanov, Stefan ^{[5
,6
]}

Rolles, Benjamin ^{[1
]}

Isfort, Susanne ^{[1
]}

Koschmieder, Steffen ^{[1
]}

Hoechsmann, Britta ^{[7
]}

Panse, Jens ^{[1
]}

Bruemmendorf, Tim H. ^{[1
]}

Beier, Fabian ^{[1
]}

机构：

[1] Rhein Westfal TH Aachen, Med Fac, Dept Hematol Oncol Hemostaseol & Stem Cell Transp, Aachen, Germany

[2] Univ Freiburg, Med Ctr, Dept Pediat & Adolescent Med, Div Pediat Hematol & Oncol, Freiburg, Germany

[3] St Jude Childrens Res Hosp, Dept Hematol, 332 N Lauderdale St, Memphis, TN 38105 USA

[4] Univ Hosp Charite, Dept Hematol & Oncol, Berlin, Germany

[5] Univ Hosp Zurich, Hematol, Zurich, Switzerland

[6] Univ Zurich, Zurich, Switzerland

[7] Univ Ulm, Inst Transfus Med, Ulm, Germany

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2021年 / 193卷 / 03期

关键词：

telomere; androgens; dyskeratosis congenita; bone marrow failure; MDS; HEMATOPOIESIS; MUTATIONS;

D O I：

10.1111/bjh.16997

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. SevenTERCorTERT-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.

引用

页码：669 / 673

页数：5

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