Danazol treatment for telomere diseases

New England Journal of Medicine

Volumn 374, Issue 20, 2016, Pages 1922-1931

  Townsley, Danielle M ^a   Dumitriu, Bogdan ^a   Liu, Delong ^a   Biancotto, Angélique ^b   Weinstein, Barbara ^a   Chen, Christina ^a   Hardy, Nathan ^a   Mihalek, Andrew D ^a   Lingala, Shilpa ^c   Kim, Yun Ju ^c   Yao, Jianhua ^a   Jones, Elizabeth ^a   Gochuico, Bernadette R ^d   Heller, Theo ^c   Wu, Colin O ^a   Calado, Rodrigo T ^e   Scheinberg, Phillip ^f   Young, Neal S ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f Hospital Sao Jose and Beneficencia Portuguesa de Sao Paulo   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

DANAZOL; LIVER ENZYME; ANTIESTROGEN; TELOMERASE;

ADOLESCENT; ADULT; ADVERSE DRUG REACTION; AGED; APLASTIC ANEMIA; ARTICLE; CHROMOSOME ABERRATION; CLINICAL ARTICLE; DISEASE CLASSIFICATION; DISEASE EXACERBATION; DRUG DOSE REDUCTION; DRUG EFFICACY; DRUG SAFETY; DRUG SUBSTITUTION; DYSLIPIDEMIA; EDEMA; EXPLORATORY RESEARCH; FEMALE; GENETIC DISORDER; HUMAN; HUMAN CELL; HUMAN TISSUE; INTENTION TO TREAT ANALYSIS; MALE; MUSCLE CRAMP; OUTCOME ASSESSMENT; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; PROSPECTIVE STUDY; TELOMERE DISEASE; TELOMERE HOMEOSTASIS; TREATMENT DURATION; TREATMENT RESPONSE; TRISOMY 21; BONE MARROW DISEASES; CLINICAL TRIAL; DRUG EFFECTS; GENETICS; HAIR COLOR; LIVER CIRRHOSIS; METABOLISM; MIDDLE AGED; MUTATION; ORAL DRUG ADMINISTRATION; PHASE 1 CLINICAL TRIAL; PHASE 2 CLINICAL TRIAL; PULMONARY FIBROSIS; TELOMERE; ULTRASTRUCTURE; UPREGULATION; YOUNG ADULT;

ADMINISTRATION, ORAL; ADOLESCENT; ADULT; AGED; BONE MARROW DISEASES; DANAZOL; ESTROGEN ANTAGONISTS; FEMALE; HAIR COLOR; HUMANS; LIVER CIRRHOSIS; MALE; MIDDLE AGED; MUTATION; PROSPECTIVE STUDIES; PULMONARY FIBROSIS; TELOMERASE; TELOMERE; UP-REGULATION; YOUNG ADULT;

EID: 84973444356     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1515319     Document Type: Article

References (40)

1. Greider CW, Blackburn EH. Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell 1985;43:405-13.
2. Blasco MA. Telomeres and human disease: ageing, cancer and beyond. Nat Rev Genet 2005;6:611-22.
3. Townsley DM, Dumitriu B, Young NS. Bone marrow failure and the telomeropathies. Blood 2014;124:2775-83.
4. Calado RT, Regal JA, Kleiner DE, et al. A spectrum of severe familial liver disorders associate with telomerase mutations. PLoS One 2009;4(11):e7926.
5. Tsakiri KD, Cronkhite JT, Kuan PJ, et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA 2007;104:7552-7.
6. Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin North Am 2009;23:215-31.
7. Vulliamy T, Marrone A, Goldman F, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001;413:432-5.
8. Heiss NS, Knight SW, Vulliamy TJ, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998;19:32-8.
9. Camitta BM, Thomas ED, Nathan DG, et al. A prospective study of androgens and bone marrow transplantation for treatment of severe aplastic anemia. Blood 1979;53:504-14.
10. Najean Y. Long-term follow-up in patients with aplastic anemia: a study of 137 androgen-treated patients surviving more than two years. Am J Med 1981;71:543-51.
11. Khincha PP, Wentzensen IM, Giri N, Alter BP, Savage SA. Response to androgen therapy in patients with dyskeratosis congenita. Br J Haematol 2014;165:349-57.
12. Sanchez-Medal L, Gomez-Leal A, Duarte L, Guadalupe Rico M. Anabolic androgenic steroids in the treatment of acquired aplastic anemia. Blood 1969;34:283-300.
13. Bayne S, Liu JP. Hormones and growth factors regulate telomerase activity in ageing and cancer. Mol Cell Endocrinol 2005;240:11-22.
14. Guo C, Armbruster BN, Price DT, Counter CM. In vivo regulation of hTERT expression and telomerase activity by androgen. J Urol 2003;170:615-8.
15. Calado RT, Yewdell WT, Wilkerson KL, et al. Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells. Blood 2009;114:2236-43.
16. Bär C, Huber N, Beier F, Blasco MA. Therapeutic effect of androgen therapy in a mouse model of aplastic anemia produced by short telomeres. Haematologica 2015;100:1267-74.
17. Yeap BB, Knuiman MW, Divitini ML, et al. Epidemiological and mendelian randomization studies of dihydrotestoster-one and estradiol and leucocyte telomere length in men. J Clin Endocrinol Metab 2016;101:1299-306.
18. Winkler T, Hong SG, Decker JE, et al. Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs. J Clin Invest 2013;123:1952-63.
19. Peffault de Latour R, Calado RT, Busson M, et al. Age-adjusted recipient pretransplantation telomere length and treatmentrelated mortality after hematopoietic stem cell transplantation. Blood 2012;120:3353-9.
20. Gutierrez-Rodrigues F, Santana-Lemos BA, Scheucher PS, Alves-Paiva RM, Calado RT. Direct comparison of flow-FISH and qPCR as diagnostic tests for telomere measurement in humans. PLoS ONE 2014;9(11):e113747.
21. Vulliamy TJ, Knight SW, Mason PJ, Dokal I. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis 2001;27:353-7.
22. Vulliamy TJ, Kirwan MJ, Beswick R, et al. Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. PLoS One 2011;6(9):e24383.
23. Yamaguchi H, Calado RT, Ly H, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 2005;352:1413-24.
24. Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica 2012;97:353-9.
25. Rosas IO, Yao J, Avila NA, Chow CK, Gahl WA, Gochuico BR. Automated quantification of high-resolution CT scan findings in individuals at risk for pulmonary fibrosis. Chest 2011;140:1590-7.
26. Vergniol J, Foucher J, Terrebonne E, et al. Noninvasive tests for fibrosis and liver stiffness predict 5-year outcomes of patients with chronic hepatitis C. Gastroenterology 2011;140:1970-9.
27. Calado RT, Young NS. Telomere diseases. N Engl J Med 2009;361:2353-65.
28. Ziegler P, Schrezenmeier H, Akkad J, et al. Telomere elongation and clinical response to androgen treatment in a patient with aplastic anemia and a heterozygous hTERT gene mutation. Ann Hematol 201291:1115-20.
29. Islam A, Rafiq S, Kirwan M, et al. Haematological recovery in dyskeratosis congenita patients treated with danazol. Br J Haematol 2013;162:854-6.
30. Svenson U, Nordfjäll K, Baird D, et al. Blood cell telomere length is a dynamic feature. PLoS One 2011;6(6):e21485.
31. Lee DC, Im JA, Kim JH, Lee HR, Shim JY. Effect of long-term hormone therapy on telomere length in postmenopausal women. Yonsei Med J 2005;46:471-9.
32. Savage SA, Alter BP. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev 2008;129:35-47.
33. Ju Z, Jiang H, Jaworski M, et al. Telomere dysfunction induces environmental alterations limiting hematopoietic stem cell function and engraftment. Nat Med 2007;13:742-7.
34. Diker-Cohen T, Uziel O, Szyperlength Kravitz M, Shapira H, Natur A, Lahav M. The effect of chemotherapy on telomere dynamics: clinical results and possible mechanisms. Leuk Lymphoma 2013;54:2023-9.
35. Robertson JD, Testa NG, Russell NH, et al. Accelerated telomere shortening following allogeneic transplantation is independent of the cell source and occurs within the first year post transplant. Bone Marrow Transplant 2001;27:1283-6.
36. Vera E, Bernardes de Jesus B, Foronda M, Flores JM, Blasco MA. The rate of increase of short telomeres predicts lonof short telomeres predicts longevity in mammals. Cell Rep 2012;2:732-7.
37. Artandi SE, Chang S, Lee SL, et al. Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice. Nature 2000;406:641-5.
38. Scheinberg P, Cooper JN, Sloand EM, Wu CO, Calado RT, Young NS. Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemia. JAMA 2010;304:1358-64.
39. Willeit P, Willeit J, Mayr A, et al. Telomere length and risk of incident cancer and cancer mortality. JAMA 2010;304:69-75.
40. Dumitriu B, Feng X, Townsley DM, et al. Telomere attrition and candidate gene mutations preceding monosomy 7 in aplastic anemia. Blood 2015;125:706-9.