title: Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita.
abstract: DC is an inherited bone marrow failure syndrome mainly characterized by nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Bone marrow failure is the most common cause of death in patients with DC. Because previous results of HSCT with a myeloablative regimen were disappointing, we used a reduced-intensity conditioning regimen for two patients with classic DC, and one patient with cryptic DC who harbored the TERT mutation. Graft sources included two mismatched-related bone marrow (BM) donors and one unrelated BM donor. Successful engraftment was achieved with few regimen-related toxicities in all patients. They were alive 10, 66, and 72 months after transplantation, respectively. Long-term follow-up is crucial to determine the late effects of our conditioning regimen.
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Clinical Research Center for Blood Diseases, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Nishio
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Ohashi
authors.forename: Sayoko
authors.initials: S
authors.lastname: Doisaki
authors.forename: Hideki
authors.initials: H
authors.lastname: Muramatsu
authors.forename: Asahito
authors.initials: A
authors.lastname: Hama
authors.forename: Akira
authors.initials: A
authors.lastname: Shimada
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yagasaki
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
mesh_terms: D000293:Adolescent; D002648:Child; D018572:Disease-Free Survival; D019871:Dyskeratosis Congenita / Q000175:diagnosis / Q000601:surgery*; D005260:Female; D005500:Follow-Up Studies; D006084:Graft Rejection; D006085:Graft Survival; D006086:Graft vs Host Disease / Q000453:epidemiology* / Q000503:physiopathology; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods*; D006801:Humans; D008297:Male; D008991:Monitoring, Physiologic / Q000379:methods; D011300:Preoperative Care / Q000379:methods; D018570:Risk Assessment; D012494:Sampling Studies; D013997:Time Factors; D014019:Tissue Donors; D019172:Transplantation Conditioning / Q000009:adverse effects / Q000379:methods*; D016896:Treatment Outcome; D055815:Young Adult