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Poster Display session 1

3029 - The molecular landscape of fusion genes in endometrial stromal sarcomas include three nosological entities with different natural history


28 Sep 2019


Poster Display session 1


Tumour Site



Mehdi Brahmi


Annals of Oncology (2019) 30 (suppl_5): v683-v709. 10.1093/annonc/mdz283


M. Brahmi1, T. Franceschi2, I. TREILLEUX3, D. Pissaloux4, I.L. Ray-Coquard5, A. Dufresne5, P. Meeus6, M. Sunyach7, K. Marie8, A. Meurgey2, J. Blay9, F. Tirode10

Author affiliations

  • 1 Medical Oncology, Centre Léon Bérard, 69008 - LYON/FR
  • 2 Pathology, Centre Léon Bérard, 69008 - LYON/FR
  • 3 Pathology, Centre Léon Bérard, 69008 - Lyon/FR
  • 4 Biopathology, Centre Léon Bérard, 69008 - LYON/FR
  • 5 Medical Oncology, Centre Léon Bérard, 69008 - Lyon/FR
  • 6 Surgical Oncology, Centre Léon Bérard, 69008 - Lyon/FR
  • 7 Radiotherapy, Centre Léon Bérard, 69008 - LYON/FR
  • 8 Pathology, Centre Leon Berard, Lyon/FR
  • 9 Medicine, Centre Léon Bérard, 69008 - Lyon/FR
  • 10 Inserm 1052, Cnrs 5286, Cancer Research Center Of Lyon, Centre Léon Bérard, 69008 - LYON/FR


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Abstract 3029


About half of ESS do not harbor a JAZF1 or YWHAE fusion and other rearrangements have already been reported. With the aim to provide a comprehensive description of the molecular landscape of endometrial stromal sarcomas (ESS), we investigated by RNA-sequencing a series of tumors diagnosed as ESS based on the morphology but negative for JAZF1 and/or YWHAE in FISH experiments.


This study was performed between September 2017 and December 2018 as a Centre Léon Bérard monocentric retrospective translational research program on tumor samples from an investigational cohort of 43 ESS patients. For clustering analyses, we used a control cohort composed of 19 patient samples of BCOR-rearranged sarcomas (n = 8), low-grade ESS with JAZF1-SUZ12 fusion (n = 5), high-grade ESS carrying a BCOR internal tandem duplication (n = 1), uterine leiomyoma (n = 2) and uterine leiomyosarcomas (n = 3). RNA sequencing was performed from FFPE material in all cases using TruSeq RNA Access Library Prep Kit (Illumina®).


A chromosomal rearrangement was identified in 74% of the cases (n = 32). We identified biologically homogeneous groups of tumors such as the JAZF1-fused (to PHF1 and SYNGAP1) and the BCOR-rearranged (BCOR-ITD, ZC3H7B-BCOR, CREBBP-BCOR). Using a clustering approach on transcriptomic data, tumors were divided in 3 subgroups: one mainly composed of BCOR-rearranged ESS (n = 7), one mainly composed of JAZF1-fused ESS (n = 14) and one composed of various molecular subtypes (n = 22). This 3 subgroups display significantly different survivals (Log-rank test, p = 0.004). Five cases which harbored a YWAHE-NUTM2B fusions clustered separately: 3 cases in the group of indolent tumors (JAZF1-fused ESS) and 2 cases in the group of aggressive tumors (BCOR-rearranged sarcomas). Of note, those 2 cases harbored also a single nucleotide variant, one on BCOR and one on BCORL1. Results of RNA-seq and clustering analysis have allowed a better classification in 6 cases.


This is the largest series of RNAseq performed in a very rare subtype of tumors: ESS. We report new and recurrent molecular variants of ESS including previously unreported fusions. RNA-sequencing may support the diagnosis of ESS and help a better classification.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

The authors.


InterSARC grants.


All authors have declared no conflicts of interest.

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