Fanconi anemia and leukemia: tracking the genes.
A review of all of the cases of Fanconi anemia (FA) reported to the International Fanconi Anemia Registry (IFAR) indicates that at least 15% manifest acute myelogenous leukemia (AML) or preleukemia. These patients usually have karyotypically abnormal bone marrow clones, but do not exhibit chromosomal translocations involving breakpoints associated with specific oncogenes; leukemia in FA is more likely to be a multi-step process than a single step transformation. The cellular defect in FA results in chromosomal instability, hypersensitivity to DNA damage, and hypermutability for allele-loss mutations. An update of current research to identify the molecular defect in FA is presented. Characterization of the FA genes should further our understanding of the etiology of leukemia.
Auerbach
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AD
The Rockefeller University, New York, New York 10021.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007391:International Cooperation; D007938:Leukemia / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000209:etiology; D011289:Preleukemia / Q000235:genetics; D012042:Registries