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

DOI PDF 被引用文献14件
  • David I. Kutler
    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.
  • Bhuvanesh Singh
    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.
  • Jaya Satagopan
    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.
  • Sat Dev Batish
    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.
  • Marianne Berwick
    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.
  • Philip F. Giampietro
    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.
  • Helmut Hanenberg
    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.
  • Arleen D. Auerbach
    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.

書誌事項

公開日
2003-02-15
DOI
  • 10.1182/blood-2002-07-2170
公開者
American Society of Hematology

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説明

<jats:p>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.</jats:p>

収録刊行物

  • Blood

    Blood 101 (4), 1249-1256, 2003-02-15

    American Society of Hematology

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