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Neurotrophic tyrosine receptor kinase (NTRK) fusions are infrequent genetic events that can occur in various tumor types. Specifically, NTRK-rearranged sarcoma has been observed in pediatric mesenchymal tumors and, to a lesser extent, in adult mesenchymal tumors like fibrosarcoma. Recently, NTRK-rearranged uterine sarcoma (US) has been identified as a rare entity characterized by constitutive activation or overexpression of the TRK receptor, which plays a role in cell proliferation and differentiation. Since its initial description in 2018, only 46 cases of NTRK-rearranged US have been reported. In this context, herein we describe an exceptional case of an fused US with histologically confirmed splenic metastasis. Notably, such localization has not been previously associated with pure uterine sarcomas in the literature. The fusion involved (exon-3) and (exon-14) genes and was identified through next-generation sequencing analysis. Recognizing this specific molecular rearrangement is crucial, as it not only enables targeted therapy but also holds diagnostic significance in specific clinical scenarios.
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http://dx.doi.org/10.3389/fmed.2024.1448491 | DOI Listing |
Front Oncol
August 2025
Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Background: Low-grade endometrial stromal sarcoma (LG-ESS) is a rare malignant tumor of the female reproductive system with atypical clinical symptoms and slow progression.
Case: A 44-year-old female with a history of intermittent severe dysmenorrhea, previous laparoscopic myomectomy, and uterine artery embolization (UAE) presented with rapidly enlarging pelvic masses. Imaging revealed uterine masses suggestive of leiomyomas, although an adnexal origin could not be excluded.
Cancer Rep (Hoboken)
September 2025
ENT and Head and Neck Research Center and Department, the Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Objective: To present a case of metastatic endometrial carcinosarcoma (ECS) with a long-term complete response to chemotherapy using a paclitaxel and carboplatin regimen.
Case Report: A 47-year-old premenopausal woman was diagnosed with a large, advanced intrauterine tumor. She underwent a total abdominal hysterectomy with bilateral salpingo-oophorectomy.
Am J Surg Pathol
September 2025
Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
Embryonic-type neuroectodermal tumor (ENT; previously referred to as primitive neuroectodermal tumor, PNET) of the testis and gynecologic tract share morphologic features with small round blue cell tumors, including Ewing sarcoma (ES), yet are biologically, therapeutically, and prognostically distinct. The diagnosis of ENT can be challenging, and it is unclear if there are reliable biomarkers that can be used to confirm this diagnosis. This study characterized 50 ENTs arising from the testis (n=38) and gynecologic tract (n=12; 7 ovary/5 uterus) with 27 biomarkers (AE1/AE3, ATRX, CD99, chromogranin-A, Cyclin D1, Fli-1, GFAP, GLUT-1, IDH1/2, INSM1, MTAP, NANOG, Nestin, neurofilament, NKX2.
View Article and Find Full Text PDFZhonghua Bing Li Xue Za Zhi
September 2025
Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Mediacal College, Beijing 100730, China.
Zhonghua Bing Li Xue Za Zhi
September 2025
Department of Pathology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, China.