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Journal articles
Transcriptomic definition of molecular subgroups of small round cell sarcomas
Sarah Watson
1, 2
Virginie Perrin
1, 2
Delphine Guillemot
3
Stephanie Reynaud
3
Jean-Michel Coindre
4, 5
Marie Karanian
6
Jean-Marc Guinebretière
7, 2
Paul Fréneaux
2
Francois Le Loarer
4, 5
Megane Bouvet
3
Louise Galmiche-Rolland
8, 9
Frédérique Larousserie
10
Elisabeth Longchampt
11
Dominique Ranchère-Vince
6
Gaëlle Pierron
3
Olivier Delattre
1, 3, 12, *
Franck Tirode
13, 1, 2, *
*
Corresponding author
Sarah Watson 1, 2
Mail :
Author
Virginie Perrin 1, 2
Author
Delphine Guillemot 3
Author
Stephanie Reynaud 3
Mail :
Author Employer institution : Université de Pau et des Pays de l'Adour IdHAL : stephanie-reynaud ORCID : https://orcid.org/0000-0001-9048-0842
Jean-Michel Coindre 4, 5
Author
Marie Karanian 6
Author
Jean-Marc Guinebretière 7, 2
Author
Paul Fréneaux 2
Author
Francois Le Loarer 4, 5
Author
Megane Bouvet 3
Author
Louise Galmiche-Rolland 8, 9
Author
Frédérique Larousserie 10
Author
Elisabeth Longchampt 11
Author
Dominique Ranchère-Vince 6
Author
Gaëlle Pierron 3
Author
Olivier Delattre 1, 3, 12
Mail :
Correspondent author
Franck Tirode 13, 1, 2
Mail :
Correspondent author
1
U830 - Unité de génétique et biologie des cancers (Institut Curie
26, rue d'Ulm section de recherche
75248 Paris cedex 05 - France)
- UPD5 - Université Paris Descartes - Paris 5 : UMR_S 830 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
- Institut Curie [Paris] ( 26 rue d'Ulm - 75248 Paris - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U830 (101, rue de Tolbiac, 75013 Paris - France)
2
Institut Curie [Paris] ( 26 rue d'Ulm - 75248 Paris - France)
3
Unité de Génétique Somatique (Paris - France)
- Institut Curie [Paris] ( 26 rue d'Ulm - 75248 Paris - France)
4
Institut Bergonié [Bordeaux] (229, cours de l'Argonne - 33076 Bordeaux - France)
- UNICANCER (101, rue de Tolbiac, 75654 Paris Cedex 13 - France)
5
UB - Université de Bordeaux (35, place Pey Berland - 33076 Bordeaux - France)
6
Centre Léon Bérard [Lyon] (28, rue Laennec 69373 LYON Cedex 08 - France)
7
Hôpital René HUGUENIN (Saint-Cloud) ( 35, rue Dailly 92210 Saint-Cloud - France)
8
Service de pathologie [CHU Necker] (France)
- APHP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- CHU Necker - Enfants Malades [AP-HP] (149 Rue de Sèvres 75015 Paris - France)
9
UPD5 - Université Paris Descartes - Paris 5 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
10
CHU Cochin [AP-HP] (27 Rue du Faubourg Saint-Jacques 75014 Paris - France)
11
Hôpital Foch [Suresnes] (40 Rue Worth 92150 Suresnes - France)
12
Equipe labellisée Ligue contre le Cancer (France)
13
UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon (28, rue Laennec - 69373 Lyon - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1052 (101, rue de Tolbiac, 75013 Paris - France)
- CNRS - Centre National de la Recherche Scientifique : UMR5286 (France)
- UCBL - Université Claude Bernard Lyon 1 (43, boulevard du 11 novembre 1918, 69622 Villeurbanne cedex - France)
- Université de Lyon (92 rue Pasteur - CS 30122, 69361 Lyon Cedex 07 - France)
- Centre Léon Bérard [Lyon] (28, rue Laennec 69373 LYON Cedex 08 - France)
Abstract : Sarcoma represents a highly heterogeneous group of tumours. We report here the first unbiased and systematic search for gene fusions combined with unsupervised expression analysis of a series of 184 small round cell sarcomas. Fusion genes were detected in 59% of samples, with half of them being observed recurrently. We identified biologically homogeneous groups of tumours such as the CIC-fused (to DUX4, FOXO4 or NUTM1) and BCOR-rearranged (BCOR-CCNB3, BCOR-MAML3, ZC3H7B-BCOR, and BCOR internal duplication) tumour groups. VGLL2-fused tumours represented a more biologically and pathologically heterogeneous group. This study also refined the characteristics of some entities such as EWSR1-PATZ1 spindle cell sarcoma or FUS-NFATC2 bone tumours that are different from EWSR1-NFATC2 tumours and transcriptionally resemble CIC-fused tumour entities. We also describe a completely novel group of epithelioid and spindle-cell rhabdomyosarcomas characterized by EWSR1- or FUS-TFCP2 fusions. Finally, expression data identified some potentially new therapeutic targets or pathways.
Document type :
Journal articles
Complete list of metadatas
https://www.hal.inserm.fr/inserm-02440510
Contributor : Franck Tirode <>
Submitted on : Wednesday, January 15, 2020 - 11:17:05 AM
Last modification on : Wednesday, June 10, 2020 - 7:22:07 PM
Document(s) archivé(s) le : Thursday, April 16, 2020 - 2:05:08 PM
Contributor : Franck Tirode <>
Submitted on : Wednesday, January 15, 2020 - 11:17:05 AM
Last modification on : Wednesday, June 10, 2020 - 7:22:07 PM
Document(s) archivé(s) le : Thursday, April 16, 2020 - 2:05:08 PM
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Identifiers
- HAL Id : inserm-02440510, version 1
- DOI : 10.1002/path.5053
- PUBMED : 29431183
Collections
BERGONIE | CURIE | FNCLCC | UNIV-LYON1 | UNIV-PARIS5 | PSL | CRCL | USPC | CNRS | UDL
Citation
Sarah Watson, Virginie Perrin, Delphine Guillemot, Stephanie Reynaud, Jean-Michel Coindre, et al.. Transcriptomic definition of molecular subgroups of small round cell sarcomas. The Journal of pathology and bacteriology, John Wiley & Sons, 2018, 245 (1), pp.29-40. ⟨10.1002/path.5053⟩. ⟨inserm-02440510⟩
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