Fanconi anemia and the development of leukemia

Blanche P. Alter

Research output: Contribution to journalArticlepeer-review

101 Scopus citations


Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and specific solid tumors. A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by age 7 years; the cancers are AML, brain tumors, and Wilms tumor; several patients have multiple events. Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of marrow failure, 20% of AML, and 30% of solid tumors (usually head and neck or gynecologic squamous cell carcinoma), by age 40, and they too are at risk of multiple adverse events. Hematopoietic stem cell transplant may cure AML and MDS, and preemptive transplant may be appropriate, but its use is a complicated decision.

Original languageEnglish (US)
Pages (from-to)214-221
Number of pages8
JournalBest Practice and Research: Clinical Haematology
Issue number3-4
StatePublished - Sep 1 2014
Externally publishedYes


  • bone marrow failure
  • Fanconi anemia
  • leukemia
  • myelodysplastic syndrome
  • stem cell transplant

ASJC Scopus subject areas

  • Oncology
  • Clinical Biochemistry


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