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Case Reports
. 2022 Oct;148(10):2933-2937.
doi: 10.1007/s00432-022-04249-x. Epub 2022 Aug 7.

A novel TMTC2-NTRK3 fusion in undifferentiated high-grade pleomorphic sarcoma

Chujie Bai #  1 , Lu Zhang #  1 , Yaohui Wang  2 , Xia You  3 , Yongzhi Ju  3 , Tingting Sun  3 , Zhengfu Fan  4
Affiliations
Case Reports

A novel TMTC2-NTRK3 fusion in undifferentiated high-grade pleomorphic sarcoma

Chujie Bai et al. J Cancer Res Clin Oncol. 2022 Oct.

Abstract

Undifferentiated high-grade pleomorphic sarcoma (UHPS) is a rare soft tissue sarcoma (STS) originated from mesenchyme. UHPS is mostly advanced, aggressive and has poor prognosis. Patients with UHPS tend to have a lower 5-year survival rate than patients with other types of STS. NTRK fusions are commonly found in rare histological tumor types. Among sarcomas, 90% of infantile fibrosarcomas have NTRK fusions. Many other types of sarcomas have also been studied for NTRK fusions. Targeted therapy with NTRK inhibitors, such as Larotrectinib and Entrectinib, leads to response in most patients with NTRK1/2/3 gene fusion-positive tumors. Herein, we present a 68-years old man with UHPS by pathological diagnosis. Next-generation sequencing (NGS) revealed a novel TMTC2-NTRK3 fusion, which was also detected by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). This report broadens the spectrum of NTRK fusions in UHPS and highlights a new target for treatment.

Keywords: Sarcoma; TMTC2-NTRK3; Undifferentiated high-grade pleomorphic sarcoma (UHPS).

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Conflict of interest statement

The authors declare no competing financial interests.

Figures

Fig. 1
Fig. 1
Histopathological images. A, B Microscopy with HE stain. C, ×40 IHC staining for Ki-67 (60%), vimentin (D, ×100), CD34 (E, ×100), and INI-1 (F, ×100)
Fig. 2
Fig. 2
TMTC2-NTRK3 fusion analysis. A Schematic diagram of detailed fusion site of TMTC2 and NTRK3. B NGS results showed a breakpoint of fusion. C TMTC2-NTRK3 fusion was confirmed by FISH (×1000) and IHC (×400) of the tumor tissue sample. (Left) IHC staining indicated a strong NTRK3 protein expression. (Right) A split signal was observed in situ hybridization image
See this image and copyright information in PMC

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