The Rare Gynecologic Sarcoma Study: Molecular and
Clinicopathologic Results of A Project on 379 Uterine Sarcomas

J 2025

The Rare Gynecologic Sarcoma Study: Molecular and Clinicopathologic Results of A Project on 379 Uterine Sarcomas

DUNDR, Pavel; Jan HOJNY; Jiri DVORAK; Nikola HAJKOVA; Romana VRANKOVA et. al.

Základní údaje

Originální název

The Rare Gynecologic Sarcoma Study: Molecular and Clinicopathologic Results of A Project on 379 Uterine Sarcomas

Autoři

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 (203 Česká republika, domácí); 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 a Michaela Kendall BARTU

Vydání

Laboratory Investigation, NEW YORK, ELSEVIER, 2025, 0023-6837

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30109 Pathology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 4.200 v roce 2024

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1016/j.labinv.2025.104092

UT WoS

001437533100001

EID Scopus

2-s2.0-85218492725

Klíčová slova anglicky

endometrial stromal sarcoma; next-generation sequencing; undifferentiated uterine sarcoma; uterine tumor

Štítky

14110230, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 2. 4. 2025 08:54, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

LM2023033, projekt VaV

Název: Síť českých biobank

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, BBMRI.cz - Síť českých biobank

Citovat

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 a 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, roč. 105, č. 5, s. 1-14. ISSN 0023-6837. Dostupné z: https://doi.org/10.1016/j.labinv.2025.104092.

@article{2488478,
   author = {Dundr, Pavel and Hojny, Jan and Dvorak, Jiri and Hajkova, Nikola and Vrankova, Romana and Krkavcova, Eva and Berjon, Alberto and Bizon, Magdalena and Bobinski, Marcin and Bouda, Jiri and Bui, Quang Hiep and Capilna, Mihai Emil and Ciccarone, Francesca and Flidrova, Miroslava and Frobe, Ana and Grabowska, Karolina and Halaska, Michael J and Hausnerová, Jitka and Jedryka, Marcin and Laco, Jan and Kalist, Vladimir and Klat, Jaroslav and Kolnikova, Georgina and Ksiazek, Mariusz and Marek, Radim and Matej, Radoslav and Michal, Michal and Michalova, Kvetoslava and Ndukwe, Munachiso and Nemejcova, Kristyna and Petroczy, Daniel and Piatnytska, Tetiana and Poka, Robert and Poprawski, Tymoteusz and Rys, Janusz and Sawicki, Wlodzimierz and Sharashenidze, Archil and Stolnicu, Simona and Struzinska, Ivana and Spurkova, Zuzana and Volodko, Nataliya and Zapardiel, Ignacio and Zikan, Michal and Zidlik, Vladimit and Cibula, David and Poncova, Renata and Bartu, Michaela Kendall},
   article_location = {NEW YORK},
   article_number = {5},
   doi = {https://doi.org/10.1016/j.labinv.2025.104092},
   keywords = {endometrial stromal sarcoma; next-generation sequencing; undifferentiated uterine sarcoma; uterine tumor},
   language = {eng},
   issn = {0023-6837},
   journal = {Laboratory Investigation},
   title = {The Rare Gynecologic Sarcoma Study: Molecular and Clinicopathologic Results of A Project on 379 Uterine Sarcomas},
   url = {https://www.sciencedirect.com/science/article/abs/pii/S0023683725000029?via%3Dihub},
   volume = {105},
   year = {2025}
}

TY  - JOUR
ID  - 2488478
AU  - Dundr, Pavel - Hojny, Jan - Dvorak, Jiri - Hajkova, Nikola - Vrankova, Romana - Krkavcova, Eva - Berjon, Alberto - Bizon, Magdalena - Bobinski, Marcin - Bouda, Jiri - Bui, Quang Hiep - Capilna, Mihai Emil - Ciccarone, Francesca - Flidrova, Miroslava - Frobe, Ana - Grabowska, Karolina - Halaska, Michael J - Hausnerová, Jitka - Jedryka, Marcin - Laco, Jan - Kalist, Vladimir - Klat, Jaroslav - Kolnikova, Georgina - Ksiazek, Mariusz - Marek, Radim - Matej, Radoslav - Michal, Michal - Michalova, Kvetoslava - Ndukwe, Munachiso - Nemejcova, Kristyna - Petroczy, Daniel - Piatnytska, Tetiana - Poka, Robert - Poprawski, Tymoteusz - Rys, Janusz - Sawicki, Wlodzimierz - Sharashenidze, Archil - Stolnicu, Simona - Struzinska, Ivana - Spurkova, Zuzana - Volodko, Nataliya - Zapardiel, Ignacio - Zikan, Michal - Zidlik, Vladimit - Cibula, David - Poncova, Renata - Bartu, Michaela Kendall
PY  - 2025
TI  - The Rare Gynecologic Sarcoma Study: Molecular and Clinicopathologic Results of A Project on 379 Uterine Sarcomas
JF  - Laboratory Investigation
VL  - 105
IS  - 5
SP  - 1-14
EP  - 1-14
PB  - ELSEVIER
SN  - 00236837
KW  - endometrial stromal sarcoma
KW  - next-generation sequencing
KW  - undifferentiated uterine sarcoma
KW  - uterine tumor
UR  - https://www.sciencedirect.com/science/article/abs/pii/S0023683725000029?via%3Dihub
N2  - 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.
ER  -

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 a Michaela Kendall BARTU. The Rare Gynecologic Sarcoma Study: Molecular and Clinicopathologic Results of A Project on 379 Uterine Sarcomas. \textit{Laboratory Investigation}. NEW YORK: ELSEVIER, 2025, roč.~105, č.~5, s.~1-14. ISSN~0023-6837. Dostupné z: https://doi.org/10.1016/j.labinv.2025.104092.

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