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

Franck Bourdeaut; Catherine Miquel; Wilfrid Richer; Jacques Grill; Michel Zerah; Camille Grison; Gaelle Pierron; Jeanne Amiel; Clementine Krucker; Francois Radvanyi; Laurence Brugieres; Olivier Delattre

doi:10.1002/pbc.24765

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

Franck Bourdeaut, Catherine Miquel, Wilfrid Richer, Jacques Grill, Michel Zerah, Camille Grison, Gaelle Pierron, Jeanne Amiel, Clementine Krucker, Francois Radvanyi, Laurence Brugieres, Olivier Delattre

Research output: Contribution to journal › Article › peer-review

33 Citations (Scopus)

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.

Original language	English
Pages (from-to)	383-386
Number of pages	4
Journal	Pediatric Blood and Cancer
Volume	61
Issue number	2
DOIs	https://doi.org/10.1002/pbc.24765
Publication status	Published - 1 Feb 2014

Keywords

CREBBP
Medulloblastoma
Predisposition
Rubinstein-Taybi syndrome

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10.1002/pbc.24765

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title = "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.",

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T1 - Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma

AU - Bourdeaut, Franck

AU - Miquel, Catherine

AU - Richer, Wilfrid

AU - Grill, Jacques

AU - Zerah, Michel

AU - Grison, Camille

AU - Pierron, Gaelle

AU - Amiel, Jeanne

AU - Krucker, Clementine

AU - Radvanyi, Francois

AU - Brugieres, Laurence

AU - Delattre, Olivier

PY - 2014/2/1

Y1 - 2014/2/1

N2 - 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.

AB - 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.

KW - CREBBP

KW - Medulloblastoma

KW - Predisposition

KW - Rubinstein-Taybi syndrome

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DO - 10.1002/pbc.24765

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JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 2

ER -

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

Abstract

Keywords

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