The Rare Gynecologic Sarcoma study involved 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 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 LG-ESS 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.

1st Department of Gynecologic Oncology and Gynecology Medical University of Lublin Lublin Poland

1st Obstetrics and Gynecology Clinic G E Palade University of Medicine Pharmacy Science and Technology Târgu Mureș Romania

Caucasus Medical Center Tbilisi Georgia

Danylo Halytsky Lviv National Medical University Lviv Ukraine

Department of Clinical and Molecular Pathology and Medical Genetics University Hospital and University of Ostrava Ostrava Czech Republic

Department of Gynecologic Oncology Khmelnytskyi Regional Antitumor Center Khmelnytskyi Citi Ukraine

Department of Gynecologic Oncology Pomeranian Hospitals Gdynia Oncology Center Gdynia Poland

Department of Gynecology and Obstetrics Bata Regional Hospital in Zlin Zlin Czech Republic

Department of Gynecology and Obstetrics Charles University 1st Faculty of Medicine and University Hospital Bulovka Prague Czech Republic

Department of Gynecology and Obstetrics Medical Faculty Pilsen Charles University and Charles University Hospital Pilsen Pilsen Czech Republic

Department of Obstetric and Gynecology University Hospital and University of Ostrava Ostrava Czech Republic

Department of Obstetrics and Gynecology Department of Oncology and Radiotherapy Charles University Faculty of Medicine in Hradec Kralove and University Hospital Hradec Kralove Hradec Kralove Czech Republic

Department of Obstetrics and Gynecology University Hospital Kralovske Vinohrady and 3rd Medical Faculty Charles University Prague Czech Republic

Department of Obstetrics and Gynecology University Hospital Palacky University Olomouc Olomouc Czech Republic

Department of Obstetrics and Gynecology University of Debrecen Debrecen Hungary

Department of Obstetrics Gynecology and Gynecological Oncology Medical University of Warsaw Warsaw Poland

Department of Obstetrics Gynecology and Gynecological Oncology Medical University of Warsaw Warsaw Poland; LUX MED Oncology Hospital Warsaw Poland

Department of Oncology and Nuclear Medicine University Hospital Centre Sestre Milosrdnice University of Zagreb School of Dental Medicine Zagreb Croatia

Department of Pathology 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

Department of Pathology 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic; Department of Pathology Charles University 3rd Faculty of Medicine University Hospital Kralovske Vinohrady Prague Czech Republic; Department of Pathology and Molecular Medicine 3rd Faculty of Medicine Charles University Thomayer University Hospital Prague Czech Republic; Caucasus Medical Center Tbilisi Georgia; Department of Pathology G E Palade University of Medicine Pharmacy Science and Technology Târgu Mureș Romania

Department of Pathology Charles University Faculty of Medicine in Plzeň Bioptical Laboratory Ltd Plzeň Czech Republic

Department of Pathology G E Palade University of Medicine Pharmacy Science and Technology Târgu Mureș Romania

Department of Pathology National Oncology Institute Bratislava Slovakia

Department of Pathology University Hospital Brno and Faculty of Medicine Masaryk University Brno Czech Republic

Department of Pathology University Hospital Bulovka Prague Czech Republic

Department of Tumor Pathology Maria Sklodowska Curie National Research Institute of Oncology Krakow Branch Krakow Poland

Dipartimento Scienze della Salute della Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy

Gynecologic Oncology Centre Department of Gynaecology Obstetrics and Neonatology 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

Gynecologic Oncology Unit La Paz University Hospital Madrid Spain

Oncological Gynecology Department Lower Silesian Oncology Pulmonology and Hematology Center Wroclaw Poland

Oncology Department Wroclaw Medical University Wroclaw Poland; Oncological Gynecology Department Lower Silesian Oncology Pulmonology and Hematology Center Wroclaw Poland

Pathology Department La Paz University Hospital Madrid Spain

The Fingerland Department of Pathology Charles University Faculty of Medicine in Hradec Králové and University Hospital Hradec Králové Hradec Králové Czech Republic

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