title: Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma.
abstract: 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.
authors.affiliation: INSERMU830, Laboratoire de génétique et biologie des cancers, Institut Curie, Paris, France; Département de pédiatrie, Institut Curie, Paris, France.
authors.forename: Franck
authors.initials: F
authors.lastname: Bourdeaut
authors.forename: Catherine
authors.initials: C
authors.lastname: Miquel
authors.forename: Wilfrid
authors.initials: W
authors.lastname: Richer
authors.forename: Jacques
authors.initials: J
authors.lastname: Grill
authors.forename: Michel
authors.initials: M
authors.lastname: Zerah
authors.forename: Camille
authors.initials: C
authors.lastname: Grison
authors.forename: Gaelle
authors.initials: G
authors.lastname: Pierron
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
authors.forename: Clementine
authors.initials: C
authors.lastname: Krucker
authors.forename: Francois
authors.initials: F
authors.lastname: Radvanyi
authors.forename: Laurence
authors.initials: L
authors.lastname: Brugieres
authors.forename: Olivier
authors.initials: O
authors.lastname: Delattre
mesh_terms: D050882:CREB-Binding Protein / Q000235:genetics*; D002528:Cerebellar Neoplasms / Q000209:etiology* / Q000473:pathology; D055028:Comparative Genomic Hybridization; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D053823:Hedgehog Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008527:Medulloblastoma / Q000209:etiology* / Q000473:pathology; D011379:Prognosis; D012415:Rubinstein-Taybi Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D017384:Sequence Deletion; D051153:Wnt Proteins / Q000235:genetics
chemical_list: D053823:Hedgehog Proteins; C509239:SHH protein, human; D051153:Wnt Proteins; D050882:CREB-Binding Protein; C494363:CREBBP protein, human
keywords: CREBBP; Rubinstein-Taybi syndrome; medulloblastoma; predisposition