title: Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study.
abstract: We analyzed data from 388 subjects with Fanconi anemia reported to the International Fanconi Anemia Registry (IFAR). Of those, 332 developed hematologic abnormalities at a median age of 7 years (range, birth to 31 years). Actuarial risk of developing hematopoietic abnormalities was 98% (95% confidence interval, 93% to 99%) by 40 years of age. Common hematologic abnormalities were thrombocytopenia and pancytopenia. These were often associated with decreased bone marrow (BM) cellularity (75% of cases studied). Clonal cytogenetic abnormalities developed in 23 of 68 persons with BM failure who had adequate studies. Actuarial risk of clonal cytogenetic abnormalities during BM failure was 67% (47% to 87%) by 30 years of age. Fifty-nine subjects developed myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Actuarial risk of MDS or AML was 52% (37% to 67%) by 40 years of age. Risk was higher in persons with than in those without a prior clonal cytogenetic abnormality (3% [0% to 9%] v 35% [0% to 79%]; P = .006). One hundred twenty persons died of hematologic causes including BM failure, MDS or AML and treatment related complications. Actuarial risk of death from hematologic causes was 81% (67% to 90%) by 40 years of age.
authors.affiliation: Laboratory for Investigative Dermatology, Rockefeller University, New York, NY.
authors.forename: A
authors.initials: A
authors.lastname: Butturini
authors.forename: R P
authors.initials: RP
authors.lastname: Gale
authors.forename: P C
authors.initials: PC
authors.lastname: Verlander
authors.forename: B
authors.initials: B
authors.lastname: Adler-Brecher
authors.forename: A P
authors.initials: AP
authors.lastname: Gillio
authors.forename: A D
authors.initials: AD
authors.lastname: Auerbach
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003582:Cytogenetics; D005199:Fanconi Anemia / Q000097:blood* / Q000401:mortality / Q000473:pathology; D005260:Female; D006402:Hematologic Diseases / Q000097:blood / Q000453:epidemiology* / Q000401:mortality; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007390:International Agencies; D007938:Leukemia / Q000453:epidemiology; D008297:Male; D009190:Myelodysplastic Syndromes / Q000453:epidemiology; D010198:Pancytopenia / Q000453:epidemiology; D012042:Registries; D012307:Risk Factors; D013921:Thrombocytopenia / Q000453:epidemiology