0 avis
Molecular classification of endometrial stromal sarcomas using RNA sequencing defines nosological and prognostic subgroups with different natural history.
Archive ouverte
International audience. A series of 42 patients tumors diagnosed as endometrial stromal sarcomas (ESS) based on 15 the morphology but negative for JAZF1 and/or YWHAE rearrangement in FISH was analyzed by 16 RNA-sequencing. A chromosomal rearrangement was identified in 31 (74%) of the cases and a 17 missense mutation in known oncogenes / tumor suppressor genes in 11 (26%). Cluster analyses on 18 the expression profiles from this series together with a control cohort composed of 5 samples of Low 19 Grade ESS harboring a JAZF1-SUZ12 fusion, 1 High Grade ESS harboring a BCOR-ITD, 2 uterine 20 tumors resembling ovarian sex cord tumors, 2 samples each of uterine leiomyoma and 21 leiomyosarcomas and a series of BCOR-rearranged family of tumor (N=8), indicated that tumors 22 could be gather in three distinct subgroups: one mainly composed of BCOR-rearranged samples 23 that contained 7 ESS samples; one mainly composed of JAZF1-fused ESS (N=15) and the last 24 composed of various molecular subtypes (N=19). These three subgroups display different gene 25 signatures, different in silico cell cycle scores, and very different clinical presentations, natural 26 history and survival (Log-rank test, P=0.004). While YWHAE-NUTM2 fusion genes may be present 27 in both high and low grade ESS, the high-grade presenting with an additional BCOR or BCORL1 28 gene mutations. RNAseq brings clinically relevant molecular classification, enabling to reclassify 29 diseases and to guide therapeutic strategy. 30
Consulter en ligne
Suggestions
Du même auteur
