Case report: STRN3-NTRK3 fusion in uterine sarcoma with spleen metastasis: a new variant in the spectrum of NTRK-rearranged tumors
Neurotrophic tyrosine receptor kinase (NTRK) fusions are infrequent genetic events that can occur in various tumor types. Specifically, NTRK-rearranged sarcoma has been observed in pediatric mesenchymal tumors and, to a lesser extent, in adult mesenchymal tumors like fibrosarcoma. Recently, NTRK-rearranged uterine sarcoma (US) has been identified as a rare entity characterized by constitutive activation or overexpression of the TRK receptor, which plays a role in cell proliferation and differentiation. Since its initial description in 2018, only 46 cases of NTRK-rearranged US have been reported. In this context, herein we describe an exceptional case of an <i>STRN3::NTRK3</i> fused US with histologically confirmed splenic metastasis. Notably, such localization has not been previously associated with pure uterine sarcomas in the literature. The fusion involved <i>STRN3</i> (exon-3) and <i>NTRK3</i> (exon-14) genes and was identified through next-generation sequencing analysis. Recognizing this specific molecular rearrangement is crucial, as it not only enables targeted therapy but also holds diagnostic significance in specific clinical scenarios.
Authors
- Sarah Pafumi
- Carlo Carnaghi (ORCID: https://orcid.org/0000-0002-8286-3728)
- Enrico Cavallo
- Piergiuseppe Colombo (ORCID: https://orcid.org/0000-0002-6161-6138)
- Stefano Marletta (ORCID: https://orcid.org/0000-0001-7881-8767)
- Luqman Adepoju Hassan (ORCID: https://orcid.org/0000-0003-0677-0404)
- Noemi Rudini (ORCID: https://orcid.org/0000-0001-7289-3790)
- Antonio Rizzo
- Sebastiano Mongiovì
- Giuseppina Adriana Buonamassa
- Anita Giulianini
- Salumeh Goudarzi
Institutions
- University of Verona (IT)
- Humanitas University (IT)
- IRCCS Humanitas Research Hospital (IT)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2024-11-08
- DOI
- https://doi.org/10.3389/fmed.2024.1448491
- Citations
- 1
- Primary Topic
- Sarcoma Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.42