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Rubinstein–Taybi syndrome predisposing to non‐WNT, non‐SHH, group 3 medulloblastoma
Author(s) -
Bourdeaut Franck,
Miquel Catherine,
Richer Wilfrid,
Grill Jacques,
Zerah Michel,
Grison Camille,
Pierron Gaelle,
Amiel Jeanne,
Krucker Clementine,
Radvanyi Francois,
Brugieres Laurence,
Delattre Olivier
Publication year - 2014
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24765
Subject(s) - medulloblastoma , medicine , rubinstein–taybi syndrome , pediatrics , dermatology , cancer research
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.