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 originale | Anglais |
---|---|
Pages (de - à) | 383-386 |
Nombre de pages | 4 |
journal | Pediatric Blood and Cancer |
Volume | 61 |
Numéro de publication | 2 |
Les DOIs | |
état | Publié - 1 févr. 2014 |