Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma

Franck Bourdeaut, Catherine Miquel, Wilfrid Richer, Jacques Grill, Michel Zerah, Camille Grison, Gaelle Pierron, Jeanne Amiel, Clementine Krucker, Francois Radvanyi, Laurence Brugieres, Olivier Delattre

    Résultats de recherche: Contribution à un journalArticleRevue par des pairs

    33 Citations (Scopus)

    Résumé

    Medulloblastomas (MB) are classified in four subgroups: the well defined WNT and Sonic Hedgehog (SHH) subgroups, and the less defined groups 3 and 4. They occasionally occur in the context of a cancer predisposition syndrome. While germline APC mutations predispose to WNT MB, germline mutations in SUFU, PTCH1, and TP53 predispose to SHH tumors. We report on a child with a Rubinstein-Taybi syndrome (RTS) due to a germline deletion in CREBBP, who developed a MB. Biological profilings demonstrate that this tumor belongs to the group 3. RTS may therefore be the first predisposition syndrome identified for non-WNT/non-SHH MB.

    langue originaleAnglais
    Pages (de - à)383-386
    Nombre de pages4
    journalPediatric Blood and Cancer
    Volume61
    Numéro de publication2
    Les DOIs
    étatPublié - 1 févr. 2014

    Contient cette citation