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Anémie de Fanconi

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Épidémiologie des cancers de l’enfant

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Abstrait

L’anémie de Fanconi (AF) est une maladie constitutionnelle rare et hétérogène sur le plan clinique et génétique, à transmission autosomique récessive dans l’immense majorité des cas. Les sujets atteints présentent un syndrome malformatif variable et parfois absent, une pancytopénie d’apparition progressive et une forte prédisposition au cancer (1, 2). La perception de la gravité clinique a longtemps été dominée par le risque d’évolution vers une aplasie médullaire sévère et, plus rarement, vers une leucémie aiguë. Une meilleure prise en charge globale et l’amélioration des résultats de l’allogreffe qui ont permis une survie prolongée des patients, et l’identification par ailleurs de sous-groupes particuliers de patients, authentifiés par la découverte de nouveaux gènes Fanconi, ont permis de mieux décrire le risque spécifique de cancer associé à cette maladie, qui est variable selon le groupe FA en cause, et font maintenant classer l’AF dans le groupe des syndromes familiaux de cancers.

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Authors and Affiliations

  1. Service de pédiatrie à orientation hématologique, Hêpital Saint-Louis, 1, avenue Claude-Vellefaux, 75475, Paris Cedex 10

    Thierry. Leblanc

  2. Service d’hématologie biologique, Hêpital Saint-Louis, 1, avenue Claude-Vellefaux, 75475, Paris Cedex 10

    Jean. Soulier

Authors
  1. Thierry. Leblanc
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  2. Jean. Soulier
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© 2009 Springer-Verlag France

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Leblanc, T., Soulier, J. (2009). Anémie de Fanconi. In: Épidémiologie des cancers de l’enfant. Springer, Paris. https://doi.org/10.1007/978-2-287-78337-1_26

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  • DOI: https://doi.org/10.1007/978-2-287-78337-1_26

  • Publisher Name: Springer, Paris

  • Print ISBN: 978-2-287-78336-4

  • Online ISBN: 978-2-287-78337-1

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