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Allografting

Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita

Bone Marrow Transplantation volume 46, pages 98–104 (2011)Cite this article

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Abstract

Dyskeratosis congenita (DC) is characterized by reticular skin pigmentation, oral leukoplakia and abnormal nails. Patients with DC have very short telomeres and approximately one-half have mutations in telomere biology genes. A majority of patients with DC develop BM failure (BMF). Hematopoietic cell transplantation (HCT) represents the only known cure for BMF in DC, but poses significant toxicities. We report six patients who underwent allogeneic HCT with a novel nonmyeloablative conditioning regimen specifically designed for DC patients. Graft sources included related PBSCs (1), unrelated BM (2) and unrelated double umbilical cord blood (3). Complete donor engraftment was achieved in five of six patients. One patient had initial autologous hematopoietic recovery, which was followed by a second transplant that resulted in 88% donor chimerism. With a median follow-up of 26.5 months, four patients are alive, three of whom were recipients of unrelated grafts. We conclude with this small study that encouraging short-term survival can be achieved with HCT in patients with DC using a preparative regimen designed to promote donor engraftment and minimize life-threatening disease-specific complications such as pulmonary fibrosis. Long-term follow-up will be crucial with respect to individualized patient care with each of the transplanted individuals.

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Acknowledgements

This work was supported in part by the Children's Cancer Research Fund in Minneapolis, MN and the Intramural Program of the National Institutes of Health and the National Cancer Institute.

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Author notes

  1. B P Alter and J Tolar: These authors contributed equally to this work.

Authors and Affiliations

  1. Division of Hematology, Department of Pediatrics, Oncology, Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA

    A C Dietz, P J Orchard & J Tolar

  2. Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA

    K S Baker

  3. Department of Pediatrics, Pediatric Bone Marrow Transplant Program, University of Colorado at Denver and Health Sciences Center, Denver, CO, USA

    R H Giller

  4. Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, USA

    S A Savage & B P Alter

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  1. A C Dietz
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Correspondence to J Tolar.

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Dietz, A., Orchard, P., Baker, K. et al. Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita. Bone Marrow Transplant 46, 98–104 (2011). https://doi.org/10.1038/bmt.2010.65

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