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.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Bourdeaut F,Miquel C,Richer W,Grill J,Zerah M,Grison C,Pierron G,Amiel J,Krucker C,Radvanyi F,Brugieres L,Delattre O

doi

10.1002/pbc.24765

subject

Has Abstract

pub_date

2014-02-01 00:00:00

pages

383-6

issue

2

eissn

1545-5009

issn

1545-5017

journal_volume

61

pub_type

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