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Épidémiologie des cancers de l’enfant pp 203–212Cite as

Voie Ras-MAPK et anomalies du développement: syndromes de Noonan, Costello, cardio-facio-cutané et LEOPARD

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Abstrait

L’étude du rôle des gènes de la voie Ras-MAPK dans le développement et l’oncogenèse est menée depuis de nombreuses années. L’activation de la voie Ras-MAPK associée à des mutations somatiques de gènes codant ses effecteurs joue un rôle majeur dans le développement de nombreux cancers chez l’homme (1). Ce n’est que très récemment que des mutations germinales de gènes codant des protéines de la voie Ras-MAPK ont été identifiées dans plusieurs syndromes héréditaires (2). Cette découverte était inattendue compte tenu du rôle majeur joué par la voie Ras-MAPK dans le développement et l’oncogenèse et a permis l’identification d’un mécanisme unificateur, la dérégulation de la voie Ras-MAPK, à l’origine des syndromes neuro-cardio-facio-cutanés (NCFC) qui regroupent : le syndrome de Noonan, le syndrome LEOPARD, le syndrome cardio-facio-cutané, le syndrome de Costello et la neurofibromatose de type 1 (NF1). Dans la suite, l’abréviation NCFC exclura la NF1 dont le phénotype diffère notablement de celui des autres syndromes, traitée au chapitre « Neurofibromatose de type 1 et tumeurs chez l’enfant ».

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Authors and Affiliations

  1. Laboratoire de biochimie et génétique moléculaire, Hôpital Beaujon, 100, boulevard du Général-Leclerc, 92118, Clichy Cedex

    Nadine Hanna, Béatrice Parfait & Michel Vidaud

  2. Département de génétique médicale, Hôpital de la Timone-Enfants, 264, rue Saint-Pierre, 13385, Marseille Cedex 5

    Nicole Philip

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  1. Nadine Hanna
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  2. Béatrice Parfait
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  3. Nicole Philip
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  4. Michel Vidaud
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Hanna, N., Parfait, B., Philip, N., Vidaud, M. (2009). Voie Ras-MAPK et anomalies du développement: syndromes de Noonan, Costello, cardio-facio-cutané et LEOPARD. In: Épidémiologie des cancers de l’enfant. Springer, Paris. https://doi.org/10.1007/978-2-287-78337-1_23

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  • DOI: https://doi.org/10.1007/978-2-287-78337-1_23

  • Publisher Name: Springer, Paris

  • Print ISBN: 978-2-287-78336-4

  • Online ISBN: 978-2-287-78337-1

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