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J Pathol. 2018 May;245(1):29-40. doi: 10.1002/path.5053. Epub 2018 Mar 30.

Transcriptomic definition of molecular subgroups of small round cell sarcomas.

Author information

1
INSERM U830, Laboratory of Genetics and Biology of Cancer, Paris, France.
2
Institut Curie, Paris Sciences et Lettres, Paris, France.
3
Institut Curie, Unité de Génétique Somatique, Paris, France.
4
Institut Bergonié, Department of Pathology, Bordeaux, France.
5
Université Bordeaux 2, Bordeaux, France.
6
Centre Leon Bérard, Department of Pathology, Lyon, France.
7
Service de Pathologie, Hôpital René-Huguenin, Institut Curie, Saint-Cloud, France.
8
Département de Biologie des Tumeurs, Institut Curie, Service d'Anatomie Pathologique, Paris, France.
9
Service d'Anatomie Pathologique, Hôpital Necker Enfants Malades, Paris, France.
10
Université Paris Descartes, Paris, France.
11
Service d'Anatomie Pathologique, Hôpital Cochin, Paris, France.
12
Service d'Anatomie et de Cytologie Pathologiques, Hôpital Foch, Suresnes, France.
13
Ligue Contre le Cancer, Equipe Labellisée.
14
Univ Lyon, Université Claude Bernard Lyon 1, INSERM 1052, CNRS 5286, Cancer Research Center of Lyon, Centre Léon Bérard, Lyon, 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. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

KEYWORDS:

BCOR-rearranged; CIC-fused; EWSR1-PATZ1; FET-TFCP2; FUS-NFATC2; RNAseq; VGLL2-NCOA2; fusion genes; sarcoma

PMID:
29431183
DOI:
10.1002/path.5053

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