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

Kutler, David I., Singh, Bhuvanesh, Satagopan, Jaya, Batish, Sat Dev, Berwick, Marianne, Giampietro, Philip F., Hanenberg, Helmut, Auerbach, Arleen D.·2003·Blood
DOI 10.1182/blood-2002-07-2170
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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 FANCCmutations (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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Crossref · 10.1182/blood-2002-07-2170

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Figure 1 Cumulative incidence of the end points of interest. The overall mortality is estimated by means of the Kaplan-Meier method. Overall survival rate is 1 -overall mortality rate. The cumulative incidence of all the other end points are calculated by treating death as a competing cause of risk.
Figure 1 Cumulative incidence of the end points of interest. The overall mortality is estimated by means of the Kaplan-Meier method. Overall survival rate is 1 -overall mortality rate. The cumulative incidence of all the other end points are calculated by treating death as a competing cause of risk.CC-BY · From the PDF
Figure 2 Overall survival time and cumulative incidence of bone marrow failure for complementation groups FA-A/FA-G and FA-C. (A) Overall survival time estimated by the Kaplan-Meier method for patients in complementation groups A/G and C. (B) Cumulative incidence of bone marrow failure calculated by a competingrisk approach, in which death is treated as a competing cause of risk, for patients in complementation groups A/G and C.
Figure 2 Overall survival time and cumulative incidence of bone marrow failure for complementation groups FA-A/FA-G and FA-C. (A) Overall survival time estimated by the Kaplan-Meier method for patients in complementation groups A/G and C. (B) Cumulative incidence of bone marrow failure calculated by a competingrisk approach, in which death is treated as a competing cause of risk, for patients in complementation groups A/G and C.CC-BY · From the PDF
Image 3
CC-BY · From the PDF
Figure 3 Overall survival time and cumulative incidence of bone marrow failure for exon 1 and intron 4/exon 14 FANCC patients. (A) Overall survival time of exon 1 and intron 4/exon 14 patients calculated by the Kaplan-Meier method. (B) Cumulative incidence of bone marrow failure in exon 1 and intron 4/exon 14 patients, calculated by a competing-risk approach, in which death is treated as a competing cause of risk.
Figure 3 Overall survival time and cumulative incidence of bone marrow failure for exon 1 and intron 4/exon 14 FANCC patients. (A) Overall survival time of exon 1 and intron 4/exon 14 patients calculated by the Kaplan-Meier method. (B) Cumulative incidence of bone marrow failure in exon 1 and intron 4/exon 14 patients, calculated by a competing-risk approach, in which death is treated as a competing cause of risk.CC-BY · From the PDF

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Citations

Cites

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Metadata

Authors
Kutler, D. I., Singh, B., Satagopan, J., Batish, S. D., Berwick, M., Giampietro, P. F., Hanenberg, H., & Auerbach, A. D.
Affiliations
From the Memorial Sloan-Kettering Cancer Center, New York, NY; The Rockefeller University, New York, NY; and the Department of Pediatric Hematology and Oncology, Heinrich Heine University Medical Center, Düsseldorf, Germany.
Venue
Blood
Publisher
American Society of Hematology
Published
2003-02-15
Volume
101
Issue
4
Pages
1249-1256
ISSN
  • 1528-0020
  • 0006-4971
DOI
10.1182/blood-2002-07-2170
Cited by
618
References
3
Language
en

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