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

A. C. Dietz, P. J. Orchard, K. S. Baker, R. H. Giller, S. A. Savage, B. P. Alter, J. Tolar

Research output: Contribution to journalArticlepeer-review

87 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)98-104
Number of pages7
JournalBone marrow transplantation
Volume46
Issue number1
DOIs
StatePublished - Jan 2011

Bibliographical note

Funding Information:
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.

Copyright:
Copyright 2011 Elsevier B.V., All rights reserved.

Keywords

  • dyskeratosis congenita
  • hematopoietic cell transplantation
  • reduced-intensity conditioning regimen

Fingerprint Dive into the research topics of 'Disease-specific hematopoietic cell transplantation: Nonmyeloablative conditioning regimen for dyskeratosis congenita'. Together they form a unique fingerprint.

Cite this