Long-term outcome in patients with Fanconi anemia who received hematopoietic stem cell transplantation: a retrospective nationwide analysis

Int J Hematol. 2021 Jan;113(1):134-144. doi: 10.1007/s12185-020-02991-x. Epub 2020 Sep 19.


We retrospectively analyzed nationwide records of 163 Fanconi anemia (FA) patients [aplastic anemia (AA), n = 118; myelodysplastic syndrome (MDS), n = 30; acute leukemia, n = 15] who underwent first allogeneic hematopoietic stem cell transplantation (HSCT) between 1987 and 2015 in Japan. An alternative donor was used in 119 (73%) patients, and 160 (98%) patients received a non-T-cell-depleted graft. With an 8.7-year median follow-up, 5-year overall survival (OS) was 81%. The 5-year OS was significantly higher in AA patients than in MDS and acute leukemia patients (89%, 71%, and 44%, respectively). In the MDS/leukemia group, factors associated with poor outcome in univariate analysis were older age at HSCT (≥ 18 years), conditioning regimen without anti-thymocyte or lymphocyte globulin, and grade II-IV acute graft-versus-host disease. After 1 year, of 137 survivors, 15 developed subsequent malignancies, of whom 12 were diagnosed with head and neck (HN)/esophageal cancer. An irradiation regimen and older age were associated with the risk of HN/esophageal cancer. Five of seven deaths were attributed to subsequent malignancies more than 5 years after HSCT. On the basis of the risk factors for HSCT in MDS/leukemia patients and subsequent malignancies, a more effective HSCT approach is required.

Keywords: Acute leukemia; Fanconi anemia; Hematopoietic stem cell transplantation; Myelodysplastic syndrome; Subsequent malignancies after hematopoietic stem cell transplantation.

MeSH terms

  • Acute Disease
  • Adolescent
  • Adult
  • Age Factors
  • Child
  • Child, Preschool
  • Esophageal Neoplasms / etiology
  • Fanconi Anemia / complications
  • Fanconi Anemia / mortality
  • Fanconi Anemia / therapy*
  • Female
  • Follow-Up Studies
  • Head and Neck Neoplasms / etiology
  • Hematopoietic Stem Cell Transplantation* / adverse effects
  • Hematopoietic Stem Cell Transplantation* / mortality
  • Humans
  • Infant
  • Japan
  • Leukemia / etiology
  • Male
  • Middle Aged
  • Myelodysplastic Syndromes / etiology
  • Retrospective Studies
  • Survival Rate
  • Time Factors
  • Transplantation, Homologous
  • Treatment Outcome
  • Young Adult