We describe outcomes after allogeneic transplantation in 34 patients with dyskeratosis congenita who underwent transplantation between 1981 and 2009. The median age at transplantation was 13 years (range, 2 to 35). Approximately 50% of transplantations were from related donors. Bone marrow was the predominant source of stem cells (24 of 34). The day-28 probability of neutrophil recovery was 73% and the day-100 platelet recovery was 72%. The day-100 probability of grade II to IV acute GVHD and the 3-year probability of chronic graft-versus-host disease were 24% and 37%, respectively. The 10-year probability of survival was 30%; 14 patients were alive at last follow-up. Ten deaths occurred within 4 months from transplantation because of graft failure (n= 6) or other transplantation-related complications; 9 of these patients had undergone transplantation from mismatched related or from unrelated donors. Another 10 deaths occurred after 4 months; 6 of them occurred more than 5 years after transplantation, and 4 of these were attributed to pulmonary failure. Transplantation regimen intensity and transplantations from mismatched related or unrelated donors were associated with early mortality. Transplantation of grafts from HLA-matched siblings with cyclophosphamide-containing nonradiation regimens was associated with early low toxicity. Late mortality was attributed mainly to pulmonary complications and likely related to the underlying disease.
Bibliographical noteFunding Information:
Financial disclosure: Supported by a Public Health Service grant ( U24-CA76518 ) from the National Cancer Institute , the National Heart Lung and Blood Institute and the National Institute of Allergy and Infectious Diseases, Heath Resources and Services Administration ( HHSH234200637015C ) and the intramural program of the Division of Cancer Epidemiology and Genetics , National Cancer Institute (S.M.G., B.P.A., N.G., P.S.R., and S.A.S.). The opinions, findings, and conclusions or recommendations expressed herein are those of the authors and do not reflect the views of the National Institutes of Health.
- Allogeneic transplantation
- Dyskeratosis congenita
- Long-term survival
- Pulmonary toxicity