Matched sibling donor haematopoietic stem cell transplantation in Fanconi anaemia: an update of the Cincinnati Children's experience

ABSTRACT

Our results for 18 patients undergoing matched sibling donor stem cell transplant for Fanconi anaemia at Cincinnati Children's Hospital Medical Center were published in 1994. The present report updates our results in 35 consecutive patients. Thirty patients transplanted for marrow aplasia received cyclophosphamide 5 mg/kg for 4 d and 400 cGy thoraco-abdominal irradiation. Five patients with clones involving chromosome 7, myelodysplastic syndrome or leukaemia received a more aggressive regimen with total body irradiation. Horse antithymocyte globulin was administered in the pretransplant period to promote engraftment and in the post-transplant period for additional graft-versus-host disease (GVHD) prophylaxis. The median age at bone marrow transplantation was 7·6 years. Median day of engraftment was day +12 (range 9–49), eight patients developed acute GVHD and four chronic GVHD, one limited and three extensive. Twenty-nine of 35 patients (89% actuarial survival at 10 years) had survived with a median follow up of 10·2 years; two children had developed secondary malignancy. All surviving patients had normal blood counts with full donor engraftment. These data indicate excellent long-term outcomes and serve as a reference for newer radiation-free preparative regimes that may reduce the risk of late secondary malignancy.