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

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. Pediatr Blood Cancer 2014;61:383–386. © 2013 Wiley Periodicals, Inc.