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Abstract

Title: Cancer in Fanconi's anemia: A North American pilot survey.
Author: Alter BP, Rosenberg PS
Journal: Blood 98(11):783A
Year: 2001
Month: None

Abstract: Patients with Fanconi's Anemia (FA) have a high risk of leukemia and solid tumors. The objective of this study was to identify the types of cancers for which FA patients are at risk, quantitify those risks, and determine associated risk factors. Among > 1200 FA cases in the medica1literature, 103 had leukemia; 59 had non-hepatic solid tumors, and 34 had liver tumors; 17% had at least one cancer. Since literature reports are subject to pUblication bias, a cross-sectional prevalence survey was conducted in US and Canadian families who belong to the Fanconi Anemia Research Fund and Fanconi Canada, respectively. 145/318 questionnaires were returned, a 46% response rate. Sixteen percent of patients (26 cancers in 23 individuals) had a history of cancer (including leukemia and excluding myelodysplastic syndrome). Cancer diagnoses were confirmed using medical records, pathology reports, or death certificates. There were 9 cases of leukemia, 6 head and neck cancers, 2 each esophageal and liver, 3 vulvar, and I each of cervical cancer, osteosarcoma, soft tissue sarcoma, and brain cancer, The cumulative probability of developing a specific complication was determined with the method of Kaplan and Meier. The risk of leukemia reached a plateau of20% at 25 years of age, and the probability of non-hepatic solid tumors was 75% by age 45 without a plateau. The Connecticut Cancer RegistrY was used to determine the relative risk of cancer in FA compared to the general population. The cancer-specific observed/expected ratios after adjusunent for age and sex were significantly and substantially elevated: 774 for acute myeloid leukemia, 675 for head and neck cancer, 2115 for esophageal cancer, 377 for liver tumors, and 4031 for vulvar cancer. Patients who developed solid tumors had a later diagnosis of FA than those who did not develop tumors (median age 8 vs 5 years, p<O.01 ). The data are consistent with the interpretation that patients with the more severe FA phenotype develop early aplastic anemia, and may not survive long enough to experience the later complications of leukemia and solid tumors. FA patients have a very high risk of cancer, and can serve as a model for investigation ofmechanism~ of carcinogenesis in humans. These families also comprise a group at high-risk of cancer who may be~efit from focused cancer screening and prevention programs.