Lee S, Jeon YR, Shin C, Kwon SY, Shin S. Pan-TRK positive uterine sarcoma in immunohistochemistry without neurotrophic tyrosine receptor kinase gene fusions: A case report. World J Clin Cases 2025; 13(2): 96876 [DOI: 10.12998/wjcc.v13.i2.96876]
Corresponding Author of This Article
Sojin Shin, MD, PhD, Professor, Department of Obstetrics and Gynecology, Keimyung University School of Medicine, 1035 Dalgubeol-daero, Dalseo-gu, Daegu 42601, South Korea. hope2014@dsmc.or.kr
Research Domain of This Article
Oncology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Seungmee Lee, Yu-Ra Jeon, Changmin Shin, Sojin Shin, Department of Obstetrics and Gynecology, Keimyung University School of Medicine, Daegu 42601, South Korea
Sun-Young Kwon, Department of Pathology and Institute for Cancer Research, Keimyung University School of Medicine, Daegu 42601, South Korea
Author contributions: Lee S and Shin S contributed to the conception and design of the case report; Lee S, Shin C and Kwon SY collected and analyzed the case data; Kwon SY and Shin S provided critical resources and supervision; Lee S, Jeon YR, Kwon SY, and Shin S wrote and edited the manuscript; All authors have read and approved the final manuscript.
Supported by Grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute, funded by the Ministry of Health & Welfare, Republic of Korea, No. RS-2022-KH129889.
Informed consent statement: Written informed consent was obtained from the patient for the publication of this study and accompanying images.
Conflict-of-interest statement: All authors declare that there is no conflict of interest regarding the publication of this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Sojin Shin, MD, PhD, Professor, Department of Obstetrics and Gynecology, Keimyung University School of Medicine, 1035 Dalgubeol-daero, Dalseo-gu, Daegu 42601, South Korea. hope2014@dsmc.or.kr
Received: May 17, 2024 Revised: October 15, 2024 Accepted: October 24, 2024 Published online: January 16, 2025 Processing time: 174 Days and 16.1 Hours
Abstract
BACKGROUND
The classification of uterine sarcomas is based on distinctive morphological and immunophenotypic characteristics, increasingly supported by molecular genetic diagnostics. Data on neurotrophic tyrosine receptor kinase (NTRK) gene fusion-positive uterine sarcoma, potentially aggressive and morphologically similar to fibrosarcoma, are limited due to its recent recognition. Pan-TRK immunohistochemistry (IHC) analysis serves as an effective screening tool with high sensitivity and specificity for NTRK-fusion malignancies.
CASE SUMMARY
We report a case of a malignant mesenchymal tumor originating from the uterine cervix, which was pan-TRK IHC-positive but lacked NTRK gene fusions, accompanied by a brief literature review. A 55-year-old woman presented to the emergency department with abdominal pain and distension, exhibiting significant ascites and multiple solid pelvic masses. Pelvic examination revealed a tumor encompassing the uterine cervix, extending to the vagina and uterine corpus. A punch biopsy of the cervix indicated NTRK sarcoma with positive immunochemical pan-TRK stain. However, subsequent next generation sequencing revealed no NTRK gene fusion, leading to a diagnosis of poorly differentiated, advanced-stage sarcoma.
CONCLUSION
The clinical significance of NTRK gene fusion lies in potential treatment with TRK inhibitors for positive sarcomas. Identifying such rare tumors is crucial due to the potential applicability of tropomyosin receptor kinase inhibitor treatment.
Core Tip: This case report highlights a rare malignant mesenchymal tumor originating from the uterine cervix that was pan-TRK immunohistochemistry-positive but lacked neurotrophic tyrosine receptor kinase (NTRK) gene fusions. Although NTRK-fusion sarcomas are aggressive and may benefit from targeted TRK inhibitor therapy, this case underscores the importance of molecular genetic diagnostics to guide accurate treatment decisions. The report contributes to the limited literature on NTRK-positive uterine sarcomas and emphasizes the potential clinical value of TRK inhibitors in selected cases.
