Three separate and complementary reports recently described the leukemia and solid tumor experience in cohorts of patients with Fanconi anemia (FA). 1-3 Here we examine the similarities and differences of these reports (Table 1) in order to synthesize the most current evidence for physicians and patients. The literature review (LIT) encompasses 1300 cases reported worldwide from 1927 to 2001. 3 The International Fanconi Anemia Registry (IFAR) includes 754 North American patients ascertained between 1982 and 2001. 2 Our North American Survey (NAS) collected cross-sectional data from 145 patients during 2000. 1 These cohorts are not mutually exclusive, and each study has potential biases. LIT cases are susceptible to publication bias, due to preferential reporting of patients with interesting outcomes. IFAR and NAS cases are subject to selection bias, since they studied volunteers. Some of the data were obtained by unverified self-report, although in the latter 2 studies, neoplasm diagnoses were confirmed objectively.

A strength of the IFAR report is the large number of subjects; a limitation of NAS is its small numbers. All of the cohorts have missing data, hindering some comparisons. Also, IFAR does not distinguish myelodysplastic syndromes (MDS) from leukemia patients, nor solid tumor patients vis-a-vis prior transplantation