Decoding the Molecular Landscape of 262 Uterine Sarcomas: RNA-Seq Clustering of Endometrial Stromal Sarcomas, Uterine Tumors Resembling Ovarian Sex Cord Tumors, and Undifferentiated Uterine Sarcomas With Prognostic Insights
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00179906%3A_____%2F25%3A10498451" target="_blank" >RIV/00179906:_____/25:10498451 - isvavai.cz</a>
Alternative codes found
RIV/27661989:_____/25:10002995 RIV/00216224:14110/25:00141740 RIV/00216208:11110/25:10498451 RIV/00216208:11120/25:43928474 and 10 more
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=lDWHtfrjQJ" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=lDWHtfrjQJ</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.labinv.2025.104198" target="_blank" >10.1016/j.labinv.2025.104198</a>
Alternative languages
Result language
angličtina
Original language name
Decoding the Molecular Landscape of 262 Uterine Sarcomas: RNA-Seq Clustering of Endometrial Stromal Sarcomas, Uterine Tumors Resembling Ovarian Sex Cord Tumors, and Undifferentiated Uterine Sarcomas With Prognostic Insights
Original language description
Low-grade endometrial stromal sarcomas (LG-ESS), high-grade endometrial stromal sarcomas (HG-ESS), undifferentiated uterine sarcomas (UUS), and uterine tumors resembling ovarian sex cord tumors (UTROSCT) are distinct non-smooth muscle cell neoplasms with varying clinical outcomes often exhibiting overlapping characteristics. Diagnosis can be supported by identifying characteristic recurrent translocations, which may be absent in some cases, complicating the distinction of equivocal cases. Additionally, cases with overlapping features of LG and HG characteristics are recognized. To address these challenges, we analyzed RNA-Seq profiles of 262 cases. Our results revealed that LG-ESS, with and without recurrent fusions, clustered into two partially overlapping expression profiles associated with distinct overall and relapse-free survival outcomes, with the cluster containing a majority of fusion-negative tumors demonstrating better prognoses. UTROSCT expression profiles closely resembled those of both LG-ESS subgroups, with NCOA3 fusion-positive cases clustering in groups with better survival outcomes. Furthermore, a distinct cluster for HG-ESS with BCOR and YWHAE fusions was identified, differentiating these tumors from HG-ESS without fusions. ONECUT3 emerged as a potential specific marker for this HG-ESS-fusion entity. A significant expression overlap was observed between monomorphic HG-ESS without fusions and pleomorphic UUS. These samples separated further into two mixed clusters distinguished by differences in immune activity, which significantly influenced overall survival and relapse-free survival outcomes. Unsupervised clustering of UUS revealed subgroups resembling either HG-ESS or muscle-cell differentiated tumors, suggesting that UUS may include poorly differentiated distinct entities, such as leiomyosarcoma, and that the distinction from HG-ESS may, in some cases, be arbitrary. Our transcriptome analysis highlights several entities with distinct survival characteristics, providing a foundation for further characterization of these rare, often difficult-to-classify, tumors.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30214 - Obstetrics and gynaecology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Laboratory Investigation
ISSN
0023-6837
e-ISSN
1530-0307
Volume of the periodical
105
Issue of the periodical within the volume
9
Country of publishing house
US - UNITED STATES
Number of pages
14
Pages from-to
104198
UT code for WoS article
001517898700001
EID of the result in the Scopus database
2-s2.0-105008247620