Stem cell transplantation from HLA-matched related donor for Fanconi's anaemia: a retrospective review of the multicentric Italian experience on behalf of AIEOP-GITMO

Br J Haematol. 2001 Mar;112(3):796-805. doi: 10.1046/j.1365-2141.2001.02572.x.


Twenty-seven consecutive Italian patients with Fanconi's anaemia (FA) underwent stem cell transplantation (SCT) from an HLA-matched related donor in 10 Italian centres of the Associazione Italiana Ematologia ed Oncologia Pediatrica (AIEOP), Gruppo Italiano di Trapianto di Midollo Osseo (GITMO). Twenty-two patients (81.5%) were conditioned with low-dose (median 20 mg/kg) cyclophosphamide (Cy) and thoraco-abdominal or total body irradiation (median dose 500 cGy), five patients (18.5%) with high-dose Cy (median 120 mg/kg). Graft-vs.-host disease (GVHD) prophylaxis was carried out with cyclosporin A in 26 cases; methotrexate (MTX) was added in eight cases. One patient received MTX alone. The median follow-up was 36 months. Ninety-two percent of patients (25 out of 27) engrafted, grade II and III acute GVHD occurred in 28% and 8% of patients, respectively, with chronic GVHD in 12.5%. Conditioning-related toxicity was mild: 4% of patients had grade III mucositis, 7.4% had grade II haemorrhagic cystitis, 14.8% had grade III liver toxicity and 11.1% had grade III renal toxicity. Transplant-related mortality at 12 months was 19.2%, survival at 36 months was 81.5%, with a median Karnofsky score of 100%. No late tumours occurred after a mean follow-up of the survivors of 5 years. None of the studied variables significantly affected the survival, including conditioning regimen, acute GVHD and clinical non-haematological phenotype. Among the studied variables, only conditioning regimens containing high-dose Cy and the presence of genital abnormalities were significantly (P < 0.05) associated with an increased rate of acute GVHD. Our study demonstrates that the Italian FA patients undergoing SCT from an HLA-matched related donor have a very good outcome. These patients, when compared with others of different ethnic origin who underwent allogeneic bone marrow transplantation, showed a less severe non-haematological phenotype, raising the possibility that this milder phenotype may have, at least in part, contributed to the outcome. Our data may provide a useful tool for further studies aiming to correlate genotype with phenotype.

Publication types

  • Comparative Study
  • Multicenter Study

MeSH terms

  • Adolescent
  • Bone Marrow Transplantation
  • Child
  • Child, Preschool
  • Congenital Abnormalities / ethnology
  • Congenital Abnormalities / surgery
  • Fanconi Anemia / complications
  • Fanconi Anemia / ethnology
  • Fanconi Anemia / surgery*
  • Female
  • Genotype
  • Graft vs Host Disease
  • Growth Disorders / complications
  • Growth Disorders / ethnology
  • Growth Disorders / surgery
  • Hematopoietic Stem Cell Transplantation / methods*
  • Histocompatibility Testing
  • Humans
  • Italy / epidemiology
  • Male
  • Phenotype
  • Pigmentation Disorders / complications
  • Pigmentation Disorders / ethnology
  • Pigmentation Disorders / surgery
  • Retrospective Studies
  • Transplantation Conditioning / methods*
  • Transplantation, Homologous
  • Treatment Outcome