Pavel Dundr, Jan Hojný, Jiří Dvořák, Nikola Hájková, Romana Vránková, Eva Krkavcová, Alberto Berjon, Magdalena Bizoń, Marcin Bobiński, Jiří Bouda, Quang Hiep Bui, Mihai Emil Căpîlna, Francesca Ciccarone, Miroslava Flídrová, Ana Fröbe, Karolina Grabowska, Michael J Halaška, Jitka Hausnerová, Marcin Jedryka, Jan Laco, Vladimír Kalist, Jaroslav Klát, Georgina Kolníková, Mariusz Książek, Radim Marek, Radoslav Matěj, Michal Michal, Květoslava Michalová, Munachiso Ndukwe, Kristýna Němejcová, Daniel Petróczy, Tetiana Piatnytska, Robert Póka, Tymoteusz Poprawski, Janusz Ryś, Włodzimierz Sawicki, Archil Sharashenidze, Simona Stolnicu, Ivana Stružinská, Zuzana Špůrková, Nataliya Volodko, Ignacio Zapardiel, Michal Zikán, Vladimít Židlík, David Cibula, Renata Poncová, Michaela Kendall Bártů
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引用次数: 0
Abstract
The Rare Gynecologic Sarcoma (REGYS) study is a project involving 23 institutions from 10 countries focusing on myxoid leiomyosarcoma and non-smooth 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 clinicopathological outcomes. A total of 379 cases were included, with available results for NGS RNA in 338/379 cases and NGS DNA in 335/379 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 re-classification, the final diagnoses were 147 cases of LG-ESS, 69 cases of HG-ESS, 58 cases of UUS, 3 cases of LG-ESS with high-grade transformation, 7 cases of PEComa, 9 cases of UTROSCT, 8 cases of tumors with a KAT6B/A::KANSL1 fusion, two 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.
期刊介绍：
Laboratory Investigation is an international journal owned by the United States and Canadian Academy of Pathology. Laboratory Investigation offers prompt publication of high-quality original research in all biomedical disciplines relating to the understanding of human disease and the application of new methods to the diagnosis of disease. Both human and experimental studies are welcome.
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