Zhang Xiao-Ying, Jiang Han-Wen, Wen Xiao-Bo, Yu Qian, Li Ying, Wang Hao, Han Jing, Yang Shi-Cong
Department of Pathology, The Affiliated Panyu Central Hospital of Guangzhou Medical University.
Shenzhen Clinical Medical College, Guangzhou University of Chinese Medicine.
Int J Gynecol Pathol. 2025 Jul 1;44(4):374-383. doi: 10.1097/PGP.0000000000001078. Epub 2024 Dec 26.
The incidence of neurotrophic tyrosine kinase receptor ( NTRK ) fusion uterine sarcoma is extremely low, and reports have been mostly focused on cases localized to the cervix. So far, only 4 cases have been reported of the uterine corpus. In this study, we reported a case of NTRK fusion corpus sarcoma. This study aimed to expand the morphologic spectrum of this tumor, which showed adenosarcoma-like features not previously described. The tumor was confined to the uterine corpus, polypoid growth, comprised predominantly of a fascicular proliferation of spindle cells, entrapping benign endometrial glands, and exhibited a pseudo-biphasic growth pattern. The tumor showed coexpression of S-100, CD34, and pan-Trk by immunohistochemistry, DNA-sequencing identified TPR-NTRK1 gene fusion and AKT1(E17K) mutation. Four cases of NTRK fusion corpus sarcoma were reviewed. The clinicopathologic features, immunohistochemical phenotype, molecular testing, and prognosis of 5 cases including this one were summarized and analyzed. Most cases exhibited an infiltrative growth pattern and showed mild or moderate cytologic atypia. The potential for these tumors to be misclassified as uterine adenosarcoma or other uterine mesenchymal tumors. The diagnosis relies on pan-Trk, S-100, CD34 immunohistochemistry, and molecular testing. Surgical resection is the mainstay of treatment for most patients. Distinguishing these tumors from morphologic mimics is significant because patients with advanced-stage disease may be treated with TRK inhibitors.
神经营养性酪氨酸激酶受体（NTRK）融合子宫肉瘤的发病率极低，且报道大多集中于局限于宫颈的病例。迄今为止，子宫体部仅报道过4例。在本研究中，我们报告了1例NTRK融合性子宫体肉瘤。本研究旨在拓展该肿瘤的形态学谱，其呈现出此前未描述过的腺肉瘤样特征。肿瘤局限于子宫体部，呈息肉样生长，主要由梭形细胞束状增生构成，包绕良性子宫内膜腺体，并呈现假双相生长模式。免疫组化显示肿瘤S-100、CD34和泛Trk共表达，DNA测序鉴定出TPR-NTRK1基因融合及AKT1（E17K）突变。回顾了4例NTRK融合性子宫体肉瘤。总结并分析了包括本例在内的5例病例的临床病理特征、免疫组化表型、分子检测及预后。大多数病例呈浸润性生长模式，细胞学异型性为轻度或中度。这些肿瘤有可能被误诊为子宫腺肉瘤或其他子宫间叶性肿瘤。诊断依赖于泛Trk、S-100、CD34免疫组化及分子检测。手术切除是大多数患者的主要治疗方式。将这些肿瘤与形态学相似的肿瘤区分开来具有重要意义，因为晚期疾病患者可能接受TRK抑制剂治疗。
