Cancer in Fanconi anemia, 1927-2001

Blanche P. Alter

Research output: Contribution to journalArticlepeer-review

322 Scopus citations


BACKGROUND. Fanconi anemia (FA) is an autosomal recessive disease associated with an abnormal response to DNA damage. Although FA is well known for the association of aplastic anemia and characteristic birth defects, leukemia and solid tumors also occur at a high rate in this group of patients. A review of all reported cases is informative with regard to the specific types of cancer, the ages at which they occur, and the cumulative probability of their development. METHODS. Medline and bibliographies of publications were searched for articles containing "Fanconi's anemia" or "aplastic anemia" and all cases of FA from 1927 through 2001 were included in the database. Cancer cases were identified within these reports. Descriptive statistical analyses were performed using Stata7 software. RESULTS. One thousand three hundred cases of FA were identified. Nine percent had leukemia (primarily acute myeloid leukemia), 7% had myelodysplastic syndrome, 5% had solid tumors, and 3% had liver tumors. Patients with cancer were older than the cancer-free patients at the time of diagnosis of FA. The median age for cancer (including leukemia) was 16, compared with 68 in the general population. The most frequent solid tumors were aerodigestive and gynecological carcinomas. In approximately 25% of patients with cancer, the malignancy preceded the diagnosis of FA. CONCLUSIONS. If the competing risks of aplastic anemia and leukemia could be removed, the estimated cumulative probability of development of a solid tumor in FA patients is 76% by the age of 45 years. Carcinogenic pathways and cancer prevention, surveillance, and treatment can be studied to advantage in this genetic model of human cancer.

Original languageEnglish (US)
Pages (from-to)425-440
Number of pages16
Issue number2
StatePublished - Jan 15 2003
Externally publishedYes


  • Aplastic anemia
  • Bone marrow transplant
  • Cancer
  • Fanconi anemia
  • Leukemia
  • Liver tumor
  • Malignancy
  • Myelodysplastic syndrome

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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