CASE REPORT article
Front. Oncol.
Sec. Gynecological Oncology
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1525722
This article is part of the Research TopicAdvances in New Biomarkers for the Diagnosis and Therapy of Gynaecological TumoursView all 7 articles
NTRK-rearranged Spindle cell neoplasm of the female genital tract: Case report and literature review
Provisionally accepted
- Department of Pathology, West China Second University Hospital, Sichuan University, Chengdu, China
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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 in situ hybridization (FISH) detected rearrangement of the NTRK1 gene, and RNA-based next-generation sequencing confirmed a TPM3::NTRK1 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 NTRK fusion type and patient prognosis. Specifically, tumors with NTRK1 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.* p-value<0.05; Measurements were expressed as mean ± standard deviation (x̄± s) # Only one case that harbored NTRK2 fusion have been reported as far, so it has not been included in statistical analysis.
Keywords: Cervix, tumor, NTRK, NGS, prognosis
Received: 10 Nov 2024; Accepted: 08 Aug 2025.
Copyright: © 2025 Feng, Li, He and Jiang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Wei Jiang, Department of Pathology, West China Second University Hospital, Sichuan University, Chengdu, China
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