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

Institutions

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
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Case report: STRN3-NTRK3 fusion in uterine sarcoma with spleen metastasis: a new variant in the spectrum of NTRK-rearranged tumors

Sarah Pafumi, Carlo Carnaghi, Enrico Cavallo, Piergiuseppe Colombo et al.
1 citations
Frontiers in Medicine
Sarcoma Diagnosis and Treatment
0.42
article

Case report: STRN3-NTRK3 fusion in uterine sarcoma with spleen metastasis: a new variant in the spectrum of NTRK-rearranged tumors

Sarah Pafumi, Carlo Carnaghi, Enrico Cavallo, Piergiuseppe Colombo, Stefano Marletta, Luqman Adepoju Hassan, Noemi Rudini, Antonio Rizzo, Sebastiano Mongiovì, Giuseppina Adriana Buonamassa, Anita Giulianini, Salumeh Goudarzi
article en
1 citations

Abstract

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.

Frontiers in MedicineVol. 11
University of Verona (IT), Humanitas University (IT), IRCCS Humanitas Research Hospital (IT)
Good health and well-being
Openalex Percentile: Top 31%
Sarcoma Diagnosis and Treatment
0.42
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

Case report: STRN3-NTRK3 fusion in uterine sarcoma with spleen metastasis: a new variant in the spectrum of NTRK-rearranged tumors — Sarah Pafumi, Carlo Carnaghi, et al. · Frontiers in Medicine (2024) | TGRS Research Map | TGRS