Feng Lulu, Li Lei, He Yanmei, Jiang Wei
Department of Pathology, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, China.
Front Oncol. 2025 Aug 27;15:1525722. doi: 10.3389/fonc.2025.1525722. eCollection 2025.
NTRK-rearranged spindle cell neoplasm is a rare subtype of soft tissue sarcoma that occasionally arises in the lower female genital tract. Accurate diagnosis is clinically important, as these tumors generally display low-grade malignant behavior and may respond to TRK inhibitor therapy. We report a rare case of cervical NTRK-rearranged spindle cell neoplasm in a 40-year-old woman who presented with abnormal vaginal bleeding. An initial biopsy of the cervical mass suggested a diagnosis of sarcoma. The patient subsequently underwent a total hysterectomy with bilateral salpingo-oophorectomy. Histological examination revealed spindle-shaped tumor cells diffusely infiltrating the cervical stroma in a solid growth pattern. Immunohistochemistry demonstrated diffuse expression of TRK and CD34. Fluorescence hybridization (FISH) detected rearrangement of the gene, and RNA-based next-generation sequencing confirmed a fusion gene. To date, only 61 cases of NTRK-rearranged spindle cell neoplasm in the female genital tract have been reported. Here, we present a new case with a detailed description of the clinical presentation, histopathological and immunophenotypic characteristics, molecular findings, and clinical outcome. Comparative analysis with previously reported cases suggests a possible correlation between fusion type and patient prognosis. Specifically, tumors with fusions tend to present at earlier stages and are associated with more favorable outcomes. These findings highlight the potential value of tailoring clinical management strategies based on fusion type.
NTRK重排的梭形细胞肿瘤是软组织肉瘤的一种罕见亚型，偶发于女性下生殖道。准确诊断在临床上很重要，因为这些肿瘤通常表现出低级别恶性行为，并且可能对TRK抑制剂治疗有反应。我们报告了一例罕见的40岁女性宫颈NTRK重排梭形细胞肿瘤病例，该患者出现异常阴道出血。宫颈肿物的初步活检提示肉瘤诊断。患者随后接受了全子宫切除术及双侧输卵管卵巢切除术。组织学检查显示梭形肿瘤细胞以实性生长模式弥漫性浸润宫颈间质。免疫组化显示TRK和CD34弥漫性表达。荧光原位杂交（FISH）检测到该基因重排，基于RNA的二代测序证实了一个融合基因。迄今为止，仅报道了61例女性生殖道NTRK重排梭形细胞肿瘤病例。在此，我们呈现一例新病例，并详细描述其临床表现、组织病理学和免疫表型特征、分子学发现及临床结局。与既往报道病例的对比分析提示融合类型与患者预后之间可能存在相关性。具体而言，具有融合的肿瘤往往在更早期出现，且预后更良好。这些发现凸显了基于融合类型制定临床管理策略的潜在价值。
