{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T17:50:59Z","timestamp":1793641859506,"version":"4.5.1"},"reference-count":35,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2020,9,11]],"date-time":"2020-09-11T00:00:00Z","timestamp":1599782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NetSarc\/RREPS\/RESOS (INCA &amp; DGOS) and LYRICAN (INCA-DGOS-INSERM 12563), Association DAM\u2019s, Ensemble contre Le GIST, Eurosarc (FP7-278742), Fondation ARC, Infosarcome, InterSARC (INCA), LabEx DEvweCAN (ANR-10-LABX-0061), Ligue de l\u2019Ain contre le Cancer, Li","award":["NetSarc\/RREPS\/RESOS (INCA & DGOS) and LYRICAN (INCA-DGOS-INSERM 12563), Association DAM\u2019s, Ensemble contre Le GIST, Eurosarc (FP7-278742), Fondation ARC, Infosarcome, InterSARC (INCA), LabEx DEvweCAN (ANR-10-LABX-0061), Ligue de l\u2019Ain contre le Cancer, Li"],"award-info":[{"award-number":["NetSarc\/RREPS\/RESOS (INCA & DGOS) and LYRICAN (INCA-DGOS-INSERM 12563), Association DAM\u2019s, Ensemble contre Le GIST, Eurosarc (FP7-278742), Fondation ARC, Infosarcome, InterSARC (INCA), LabEx DEvweCAN (ANR-10-LABX-0061), Ligue de l\u2019Ain contre le Cancer, Li"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>A series of 42 patient tumors diagnosed as endometrial stromal sarcoma (ESS) based on the morphology but negative for JAZF1 and\/or YWHAE rearrangement in FISH was analyzed by RNA-sequencing. A chromosomal rearrangement was identified in 31 (74%) of the cases and a missense mutation in known oncogenes\/tumor suppressor genes in 11 (26%). Cluster analyses on the expression profiles from this series together with a control cohort composed of five samples of low grade ESS harboring a JAZF1-SUZ12 fusion, one high grade ESS harboring a BCOR-ITD, two uterine tumors resembling ovarian sex cord tumors, two samples each of uterine leiomyoma and leiomyosarcomas and a series of BCOR-rearranged family of tumor (n = 8) indicated that tumors could be gather in three distinct subgroups: one mainly composed of BCOR-rearranged samples that contained seven ESS samples, one mainly composed of JAZF1-fused ESS (n = 15) and the last composed of various molecular subtypes (n = 19). These three subgroups display different gene signatures, different in silico cell cycle scores and very different clinical presentations, natural history and survival (log-rank test, p = 0.004). While YWHAE-NUTM2 fusion genes may be present in both high and low grade ESS, the high-grade presents with additional BCOR or BCORL1 gene mutations. RNAseq brings clinically relevant molecular classification, enabling the reclassification of diseases and the guidance of therapeutic strategy.<\/jats:p>","DOI":"10.3390\/cancers12092604","type":"journal-article","created":{"date-parts":[[2020,9,13]],"date-time":"2020-09-13T21:11:32Z","timestamp":1600031492000},"page":"2604","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Molecular Classification of Endometrial Stromal Sarcomas Using RNA Sequencing Defines Nosological and Prognostic Subgroups with Different Natural History"],"prefix":"10.3390","volume":"12","author":[{"given":"Mehdi","family":"Brahmi","sequence":"first","affiliation":[{"name":"Department of Medical Oncology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"},{"name":"Cancer Research Center of Lyon, Centre L\u00e9on B\u00e9rard, Univ Lyon, Claude Bernard University Lyon 1, INSERM 1052, CNRS 5286, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2053-9102","authenticated-orcid":false,"given":"Tatiana","family":"Franceschi","sequence":"additional","affiliation":[{"name":"Department of Biopathology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Treilleux","sequence":"additional","affiliation":[{"name":"Department of Biopathology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1118-950X","authenticated-orcid":false,"given":"Daniel","family":"Pissaloux","sequence":"additional","affiliation":[{"name":"Cancer Research Center of Lyon, Centre L\u00e9on B\u00e9rard, Univ Lyon, Claude Bernard University Lyon 1, INSERM 1052, CNRS 5286, 69008 Lyon, France"},{"name":"Department of Biopathology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Ray-Coquard","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"},{"name":"Cancer Research Center of Lyon, Centre L\u00e9on B\u00e9rard, Univ Lyon, Claude Bernard University Lyon 1, INSERM 1052, CNRS 5286, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armelle","family":"Dufresne","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9934-5719","authenticated-orcid":false,"given":"Helene","family":"Vanacker","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melodie","family":"Carbonnaux","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Meeus","sequence":"additional","affiliation":[{"name":"Department of Surgery, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Pierre","family":"Sunyach","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amine","family":"Bouhamama","sequence":"additional","affiliation":[{"name":"Department of Radiology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Karanian","sequence":"additional","affiliation":[{"name":"Cancer Research Center of Lyon, Centre L\u00e9on B\u00e9rard, Univ Lyon, Claude Bernard University Lyon 1, INSERM 1052, CNRS 5286, 69008 Lyon, France"},{"name":"Department of Biopathology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Meurgey","sequence":"additional","affiliation":[{"name":"Department of Biopathology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7190-120X","authenticated-orcid":false,"given":"Jean-Yves","family":"Blay","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Centre L\u00e9on B\u00e9rard, 28 rue Laennec, 69008 Lyon, France"},{"name":"Cancer Research Center of Lyon, 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