Article
Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma.
Pediatric blood & cancer - 1 Feb 2014
Bourdeaut Franck, Miquel Catherine, Richer Wilfrid, Grill Jacques, Zerah Michel, Grison Camille, Pierron Gaelle, Amiel Jeanne, Krucker Clementine, Radvanyi Francois, Brugieres Laurence, Delattre Olivier
Abstract excerpt
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...
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