| Citation |
DUNDR, Pavel, Jan HOJNY, Jiri DVORAK, Nikola HAJKOVA, Romana
VRANKOVA, Eva KRKAVCOVA, Alberto BERJON, Magdalena BIZON,
Marcin BOBINSKI, Jiri BOUDA, Quang Hiep BUI, Mihai Emil
CAPILNA, Francesca CICCARONE, Miroslava FLIDROVA, Ana FROBE,
Karolina GRABOWSKA, Michael J HALASKA, Jitka HAUSNEROVÁ, Marcin
JEDRYKA, Jan LACO, Vladimir KALIST, Jaroslav KLAT, Georgina
KOLNIKOVA, Mariusz KSIAZEK, Radim MAREK, Radoslav MATEJ, Michal
MICHAL, Kvetoslava MICHALOVA, Munachiso NDUKWE, Kristyna
NEMEJCOVA, Daniel PETROCZY, Tetiana PIATNYTSKA, Robert POKA,
Tymoteusz POPRAWSKI, Janusz RYS, Wlodzimierz SAWICKI, Archil
SHARASHENIDZE, Simona STOLNICU, Ivana STRUZINSKA, Zuzana
SPURKOVA, Nataliya VOLODKO, Ignacio ZAPARDIEL, Michal ZIKAN,
Vladimit ZIDLIK, David CIBULA, Renata PONCOVA and Michaela
Kendall BARTU. The Rare Gynecologic Sarcoma Study: Molecular
and Clinicopathologic Results of A Project on 379 Uterine
Sarcomas. Laboratory Investigation. NEW YORK: ELSEVIER, 2025,
vol. 105, No 5, p. 1-14. ISSN 0023-6837. Available from:
https://dx.doi.org/10.1016/j.labinv.2025.104092. |
| Description |
The Rare Gynecologic Sarcoma study involved 23 institutions from 10 countries focusing on myxoid leiomyosarcoma and nonesmooth muscle uterine sarcomas. Here, we present the main results of the study, including the comparison between the original and final diagnosis, the frequency and type of molecular aberrations, and the clinicopathologic outcomes. A total of 379 cases were included, with available results for next-generation sequencing (NGS) RNA in 338 of 379 cases and NGS DNA in 335 of 379 cases. According to the original diagnoses, the study included 204 cases of low-grade endometrial stromal sarcoma (LG-ESS), 75 cases of high-grade endometrial stromal sarcoma (HG-ESS), 74 cases of undifferentiated uterine sarcoma (UUS), 17 cases of myxoid leiomyosarcoma, and 9 cases of unclassifiable sarcoma. The results of our second reading showed that 29% (110/379) of all the tumors had been originally misdiagnosed. After the reclassification, the final diagnoses were 147 cases of LG-ESS, 69 cases of HG-ESS, 58 cases of UUS, 3 cases of LGESS with high-grade transformation, 7 cases of perivascular epithelioid cell tumor, 9 cases of uterine tumor resembling ovarian sex cord tumor, 8 cases of tumors with a KAT6B/A::KANSL1 fusion, 2 cases of tumors with an NTRK fusion, 29 cases of undifferentiated carcinoma, and 47 tumors with smooth muscle differentiation. The molecular testing showed that LG-ESS harbor a recurrent fusion in 75.9% and HG-ESS in 43.7% of cases. The results of our study emphasize the diagnostic, prognostic, and predictive significance of molecular testing in mesenchymal uterine tumors. (c) 2025 United States & Canadian Academy of Pathology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
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