title: Radiosensitivity in Fanconi anemia: application to the conditioning for bone marrow transplantation.
abstract: Fanconi anemia is characterised by pancytopenia, malformations and chromosomal breaks probably related to a congenital defect of DNA repair mechanisms. The evolution is always fatal unless, the patient receives a bone marrow transplant from an HLA identical sibling. According to preliminary work on sensitivity of FA cells to alkylating agents and to in vivo radiosensitivity tests, we used a modified conditioning regimen with cyclophosphamide 20 mg/kg and 5 Grays thoraco-abdominal irradiation. Nineteen patients are reported. The actuarial survival is 74% with a median follow-up time of 4 years (range 6 months to 6 years). GVH was the main complication (58%). It was responsible directly or indirectly for 4 deaths. These results show that BMT in FA is successful in the large majority of cases. The decrease of the dose cyclophosphamide allowed a good engraftment without major toxicity. Studies are in progress for using this type of protocol in situations without a HLA matched sibling donor.
authors: Bone Marrow Transplant Unit, Hospital Saint-Louis, Paris, France.
authors: E
authors: E
authors: Gluckman
mesh_terms: D000293:Adolescent; D000328:Adult; D016026:Bone Marrow Transplantation / Q000009:adverse effects; D002648:Child; D002675:Child, Preschool; D002873:Chromosome Fragility; D003131:Combined Modality Therapy; D003520:Cyclophosphamide / Q000008:administration & dosage / Q000627:therapeutic use; D004305:Dose-Response Relationship, Drug; D005199:Fanconi Anemia / Q000188:drug therapy / Q000235:genetics / Q000532:radiotherapy / Q000601:surgery*; D005260:Female; D006086:Graft vs Host Disease / Q000209:etiology; D006801:Humans; D008297:Male; D011836:Radiation Tolerance / Q000235:genetics*
chemical_list: D003520:Cyclophosphamide