Rubinstein-Taybi Syndrome Predisposing to Non-WNT, Non-SHH, Group 3 Medulloblastoma

被引：32

作者：

Bourdeaut, Franck ^{[1
,2
]}

Miquel, Catherine ^{[3
,4
]}

Richer, Wilfrid ^{[1
]}

Grill, Jacques ^{[5
]}

Zerah, Michel ^{[4
,6
]}

Grison, Camille ^{[7
]}

Pierron, Gaelle ^{[7
]}

Amiel, Jeanne ^{[4
,8
]}

Krucker, Clementine ^{[9
]}

Radvanyi, Francois ^{[9
]}

Brugieres, Laurence ^{[5
]}

Delattre, Olivier ^{[1
,7
]}

机构：

[1] Inst Curie, INSERMU830, Lab Genet & Biol Canc, F-75248 Paris 05, France

[2] Inst Curie, Dept Pediat, F-75248 Paris 05, France

[3] Hop St Anne, Serv Neuropathol, F-75674 Paris, France

[4] Univ Paris 05, Paris, France

[5] Inst Gustave Roussy, Dept Pediat, Villejuif, France

[6] Hop Necker Enfants Malad, AP HP, Serv Neurochirurg Pediat, Paris, France

[7] Inst Curie, Unite Genet Somat, F-75248 Paris 05, France

[8] Hop Necker Enfants Malad, AP HP, Serv Genet & Diagnost Handicaps, Paris, France

[9] Inst Curie, CNRS Equipe Oncol Mol UMR144, F-75248 Paris 05, France

来源：

PEDIATRIC BLOOD & CANCER | 2014年 / 61卷 / 02期

关键词：

CREBBP; medulloblastoma; predisposition; Rubinstein-Taybi syndrome; HIGH-FREQUENCY; MUTATIONS;

D O I：

10.1002/pbc.24765

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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. (c) 2013 Wiley Periodicals, Inc.

引用

页码：383 / 386

页数：4

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