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. 2003 Feb 15;101(4):1249-56.
doi: 10.1182/blood-2002-07-2170. Epub 2002 Sep 26.

A 20-year perspective on the International Fanconi Anemia Registry (IFAR)

David I Kutler  1 , Bhuvanesh Singh, Jaya Satagopan, Sat Dev Batish, Marianne Berwick, Philip F Giampietro, Helmut Hanenberg, Arleen D Auerbach
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Free article

A 20-year perspective on the International Fanconi Anemia Registry (IFAR)

David I Kutler et al. Blood. .
Free article

Abstract

Fanconi anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensitivity to DNA cross-linking agents and cancer predisposition. Recent evidence for the interactions of ataxia-telangiectasia mutated protein ATM and breast cancer susceptibility proteins BRCA1 and BRCA2 (identified as FANCD1) with other known FA proteins suggests that FA proteins have a significant role in DNA repair/recombination and cell cycle control. The International Fanconi Anemia Registry (IFAR), a prospectively collected database of FA patients, allows us the unique opportunity to analyze the natural history of this rare, clinically heterogeneous disorder in a large number of patients. Of the 754 subjects in this study, 601 (80%) experienced the onset of bone marrow failure (BMF), and 173 (23%) had a total of 199 neoplasms. Of these neoplasms, 120 (60%) were hematologic and 79 (40%) were nonhematologic. The risk of developing BMF and hematologic and nonhematologic neoplasms increased with advancing age with a 90%, 33%, and 28% cumulative incidence, respectively, by 40 years of age. Univariate analysis revealed a significantly earlier onset of BMF and poorer survival for complementation group C compared with groups A and G; however, there was no significant difference in the time to hematologic or nonhematologic neoplasm development between these groups. Multivariate analysis of overall survival time shows that FANCC mutations (P =.007) and hematopoietic stem cell transplantation (P = <.0001) define a poor-risk subgroup. The results of this study of patients registered in the IFAR over a 20-year period provide information that will enable better prediction of outcome and aid clinicians with decisions regarding major therapeutic modalities.

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Comment in

  • Cancer in Fanconi anemia.
    Alter BP, Greene MH, Velazquez I, Rosenberg PS. Alter BP, et al. Blood. 2003 Mar 1;101(5):2072. doi: 10.1182/blood-2002-11-3597. Blood. 2003. PMID: 12584146 No abstract available.

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