Fludarabine-based stem cell transplantation protocol for Fanconi's anaemiain myelodysplastic transformation

Allogeneic stem cell transplantation (SCT) represents the treatment of choi ce for severe bone marrow (BM) failure in patients with Fanconi's anaemia ( FA). However, for FA patients developing leukaemic or myelodysplastic trans formation, the results of SCT are much less encouraging. We present a 17-ye ar-old girl with myelodysplastic transformation of FA (refractory anaemia w ith excess blasts) and oculocutaneous albinism, who was treated by sibling SCT using conditioning with fludarabine, cyclophosphamide (CY) and anti-lym phocyte globulin (ALG). She had rapid engraftment with no toxicity and no g raft-versus-host disease (GVHD). Twenty-two months after SCT, she had 100% donor chimaerism on Southern blot analysis.