Preemptive Bone Marrow Transplantation for FANCD1/BRCA2

Nicholas E. Khan, Philip S. Rosenberg, Harold P. Lehmann, Blanche P. Alter

Research output: Contribution to journalArticle


Children with biallelic mutations in FANCD1/BRCA2 are at uniquely high risks of leukemia and solid tumors. Preemptive bone marrow transplantation (PE-BMT) has been proposed to avoid the development of leukemia, but empirical study of PE-BMT is unlikely because of the rarity of these children and the unknown benefit of PE-BMT. We used survival analysis to estimate the risks of leukemia and the expected survival if leukemia could be eliminated by curative PE-BMT. We used the results in a decision analysis model to explore the plausibility of PE-BMT for children with variable ages at diagnosis and risks of transplantation-related mortality. For example, PE-BMT at 1 year of age with a 10% risk of transplantation-related mortality increased the mean survival by 1.7 years. The greatest benefit was for patients diagnosed between 1 and 3 years of age, after which the benefit of PE-BMT decreased with age at diagnosis, and the risk of death from solid tumors constituted a relatively greater burden of mortality. Our methods may be used to model survival for other hematologic disorders with limited empirical data and a pressing need for clinical guidance.

Original languageEnglish (US)
Pages (from-to)1796-1801
Number of pages6
JournalBiology of Blood and Marrow Transplantation
Issue number10
StatePublished - Oct 1 2015


  • BRCA2
  • Decision analysis
  • Fanconi anemia
  • Markov model
  • Preemptive transplantation

ASJC Scopus subject areas

  • Hematology
  • Transplantation

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