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.

• Klíčová slova
• endometrial stromal sarcoma, next-generation sequencing, undifferentiated uterine sarcoma, uterine tumor,
• Publikační typ
• časopisecké články MeSH

Low-grade endometrial stromal sarcoma (LG-ESS) can present diagnostic challenges, due to its overlapping morphological features with other uterine mesenchymal tumors. Misdiagnosis rates remain significant, and immunohistochemical data for LG-ESS are limited to small series and inconsistent antibody panels. This study aimed to refine the IHC profile of LG-ESS by analyzing a large, molecularly confirmed series of 147 cases using a panel of 24 antibodies, including newer markers like transgelin and smoothelin. CD10 and IFITM1, key endometrial stromal markers, were expressed in 86% (92% of those extensively) and 69% (60% of those extensively) of cases, with fusion-positive tumors showing significantly higher expression. Smooth muscle markers (α-SMA, desmin, h-caldesmon, calponin, transgelin) were variably expressed, predominantly in focal or low-intensity patterns, with α-SMA reaching the highest frequency of expression (44%). However, the intensity of smooth muscle marker expression was usually very low. Smoothelin was rarely expressed. Hormone receptors were frequently positive, with PR showing a higher frequency (92% vs. 83%) and intensity than ER. Markers like S-100, HMB45, and CD117 were largely negative; all tumors were p53 wild-type, with preserved SMARCB1/SMARCA4 expression and ALK and ROS1 negativity. This work represents the largest molecularly validated IHC study on LG-ESS, providing a robust diagnostic profile for routine pathology. By addressing key diagnostic limitations and examining newer markers, our study supports a more standardized approach to diagnosing LG-ESS and underscores the value of immunohistochemical panels, particularly in fusion-negative tumors where diagnosis relies on morphological and immunohistochemical interpretation. These findings contribute critical data for improving diagnostic accuracy.

• Klíčová slova
• Endometrial stromal markers, Immunohistochemistry, LG-ESS, Low-grade endometrial stromal sarcoma, Smoothelin,
• Publikační typ
• časopisecké články MeSH

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare tumor of uncertain lineage and low malignant potential. Most tumors behave in a benign manner, but a subset of UTROSCT exhibit an aggressive clinical course with recurrences and metastases. The recurrent molecular alterations in UTROSCT mostly represent gene fusions involving NCOA1-3. We performed a comprehensive clinicopathological, morphologic, immunohistochemical, and molecular analysis on a cohort of 35 UTROSCT. The tumors exhibited various architectural patterns (diffuse, corded/trabecular, tubular, sertoliform, fascicular, whorled, nested, microfollicular, and pseudoglandular), often in combination. The immunohistochemical analysis confirmed the polyphenotypic immunoprofile, often with coexpression of sex cord-stromal, smooth muscle, and epithelial markers, as well as hormone receptors. Next-generation sequencing RNA analysis revealed recurrent NCOA1-3 gene fusions in 22/32 analyzed cases (69%), including ESR1::NCOA3 (11/22), GREB1::NCOA2 (7/22), ESR1::NCOA2 (3/22), and GREB1::NCOA1 (1/22). Tumor mutation burden was low in all cases. The fusion-positive cases exhibited statistically significant association with whorled architecture, conversely necrosis was associated with fusion-negative status. We did not find a significant relationship between any architectural pattern and GREB1 alterations, but the NCOA2-altered tumors were associated with pseudoglandular architecture. The GREB1-altered cases occurred in older patients and tended to be more often intramural masses compared with ESR1-altered cases. On the contrary, the ESR1-altered cases presented more often like submucosal or polypoid tumors. Two tumors exhibited aggressive behavior with recurrent disease. Both of these cases harbored a GREB1::NCOA2 fusion. Unsupervised hierarchical cluster analysis of our cohort revealed 2 main clusters. The tumors with GREB1 or NCOA2 fusion cluster together, suggesting that there are underlying molecular differences between these cases and cases with ESR1::NCOA3 fusion or without fusion. Our findings contribute to the growing knowledge about a rare neoplasm with currently uncertain biological behavior.

• Klíčová slova
• ESR1, GREB1, NCOA1-3, UTROSCT, expression profiling, immunohistochemistry, molecular testing, uterine tumor resembling ovarian sex cord tumors,
• MeSH
• dospělí MeSH
• gonadální stromální nádory * genetika   patologie   MeSH
• imunohistochemie * MeSH
• koaktivátor 2 jaderných receptorů genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• nádorové biomarkery * genetika   analýza   MeSH
• nádory dělohy * genetika   patologie   MeSH
• nádory vaječníků genetika   patologie   MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• koaktivátor 2 jaderných receptorů MeSH
• nádorové biomarkery * MeSH
• NCOA2 protein, human MeSH Prohlížeč

(1) The surgical method of choice for the treatment of endometrial cancer is minimally invasive surgery. In cases of high-risk endometrial cancer, completed paraaortic and pelvic lymphadenectomy are indicated. The aim of this study was to analyze the types of docking during robotic surgery assisted with the da Vinci X system while performing paraaortic and pelvic lymphadenectomy. (2) Methods: A total of 25 patients with high-risk endometrial cancer, with a mean age of 60.07 ± 10.67 (range 34.69-83.23) years, and with a mean body mass index (BMI) of 28.4 ± 5.62 (range 18-41.5) kg/m2, were included in this study. The analyzed population was divided into groups that underwent single or dual docking during surgery. (3) Results: No statistical significance was observed between single and dual docking during paraaortic and pelvic lymphadenectomy and between the type of docking and the duration of the operation. However, there was a statistically significant correlation between the duration of the operation and previous surgery (p < 0.005). The number of removed lymph nodes was statistically associated with BMI (p < 0.005): 15.87 ± 6.83 and 24.5 ± 8.7 for paraaortic and pelvic lymph nodes, respectively, in cases of single docking, and 18.05 ± 7.92 and 24.88 ± 11.75 for paraaortic and pelvic lymph nodes, respectively, in cases of dual docking. (4) Conclusions: The robot-assisted approach is a good surgical method for lymphadenectomy for obese patients, and, despite the type of docking, there are no differences in the quality of surgery.

• Klíčová slova
• dual docking, endometrial cancer, paraaortic lymphadenectomy, robotic surgery, single docking,
• Publikační typ
• časopisecké články MeSH

In Poland, robotic surgery is nowadays perceived as a new method of surgical treatment in endometrial cancer patients. We aim to present the first Polish group of endometrial cancer patients treated using robotic surgery. The analysis was based on 79 patients with mean age of 59.72 ± 11.709 (range 27-83) years and endometrial cancer scheduled for surgical treatment. Mean BMI was 31.38 ± 8.78 (range 19.03-65.97) kg/m2. The data were collected based on a questionnaire consisting of 19 questions concerning the patient's perception of robotic surgery before the procedure. Patients with a family history of neoplastic diseases indicate precision of movements as the most important reason for choosing robotic surgery (p = 0.0035). Patients after surgery procedures in the past named shorter hospitalization as a major benefit (p = 0.0037). Patients who chose robotic surgery for financial reasons stressed the cosmetic effect as a priority (p = 0.0319). Shorter length of hospital stay, less blood loss, enlarged view, and good visualization were statistically significant reasons for choosing robotic surgery (p < 0.05). Women who consider work, good material status, and well-being as the most important aspects of their lives cited the cosmetic effect as a benefit of robotic surgery (p = 0.0029 vs. p = 0.0074 vs. p = 0.01745, respectively). In the follow-up after operations, no patients regretted choosing robotic surgery. Good visualization, precise movements, less blood loss, and cosmetic effects are the most frequent reasons for choosing robotic surgery. Even patients after other types of surgery in the past decided on robot-assisted radical hysterectomy because of the clear benefits of this approach.

• Klíčová slova
• Endometrial cancer, Miniinvasive surgery, Patient’s preferences, Robotic surgery,
• MeSH
• dospělí MeSH
• hysterektomie metody   MeSH
• laparoskopie * metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory endometria * chirurgie   MeSH
• retrospektivní studie MeSH
• roboticky asistované výkony * metody   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Polsko MeSH