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NTRK3-Rearranged Sarcoma of the Cervix: An Emerging Tumor Entity - Case Report and Review of the Literature
Ruchi Rathore1, Sarita Kumari2, Babita Kataria3
1Department of Pathology, All India Institute of Medical Sciences, NEW DELHI, INDIA.
Abstract:
NTRK-rearranged sarcoma of the cervix was recognized by the World Health Organization in 2020 as an emerging tumor entity under mesenchymal tumors of the lower female genital tract. Defined by characteristic NTRK gene fusions, this rare tumor is therapeutically targetable due to same. We report a case of a 23-year-old woman who presented with abnormal vaginal bleeding and a polypoid cervical mass. Histopathological examination of preliminary biopsy revealed spindle cell sarcoma demonstrating immunopositivity for Pan-TRK, CD34, and S100. Break-apart fluorescence in situ hybridization (FISH) confirmed the presence of an NTRK3 gene rearrangement. This patient represents one of the few reported cases of NTRK3-rearranged cervical sarcoma with lymph node metastasis in a young female. We also extensively review the existing literature and summarize the clinicopathological features, molecular profiles, and treatment implications of this report. Given the availability of effective TRK inhibitors, it is imperative to consider NTRK-rearranged sarcoma in the differential diagnosis of spindle cell sarcomas of the lower genital tract.
Insights
NTRK-rearranged cervical sarcoma, a rare tumor, was identified in a young woman. This World Health Organization-recognized entity is therapeutically targetable with TRK inhibitors, highlighting its importance in differential diagnosis.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- NTRK-rearranged sarcoma of the cervix is an emerging tumor entity recognized by the WHO in 2020.
- This rare mesenchymal tumor of the lower female genital tract is defined by specific NTRK gene fusions.
- The presence of NTRK gene fusions makes these tumors therapeutically targetable.
Purpose of the Study:
- To report a rare case of NTRK3-rearranged cervical sarcoma with lymph node metastasis in a young female.
- To review the clinicopathological features, molecular profiles, and treatment implications of NTRK-rearranged cervical sarcoma.
- To emphasize the importance of considering NTRK-rearranged sarcoma in the differential diagnosis of lower genital tract spindle cell sarcomas.
Main Methods:
- Histopathological examination of a cervical biopsy.
- Immunohistochemistry for Pan-TRK, CD34, and S100.
- Break-apart fluorescence in situ hybridization (FISH) for NTRK gene rearrangement detection.
Main Results:
- A 23-year-old woman presented with abnormal vaginal bleeding and a cervical mass.
- Biopsy revealed spindle cell sarcoma with immunopositivity for Pan-TRK, CD34, and S100.
- FISH confirmed an NTRK3 gene rearrangement, and lymph node metastasis was identified.
Conclusions:
- NTRK-rearranged cervical sarcoma is a rare but important entity in the differential diagnosis of lower genital tract sarcomas.
- Early consideration of this diagnosis is crucial due to the availability of effective TRK inhibitors.
- This case highlights the potential for lymph node metastasis in young females with NTRK3-rearranged cervical sarcoma.
