PMID- 35933643 OWN - NLM STAT- MEDLINE DCOM- 20220915 LR - 20220923 IS - 1432-1335 (Electronic) IS - 0171-5216 (Linking) VI - 148 IP - 10 DP - 2022 Oct TI - A novel TMTC2-NTRK3 fusion in undifferentiated high-grade pleomorphic sarcoma. PG - 2933-2937 LID - 10.1007/s00432-022-04249-x [doi] AB - 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. CI - (c) 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. FAU - Bai, Chujie AU - Bai C AD - Department of Bone and Soft Tissue Tumor, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, 100143, China. FAU - Zhang, Lu AU - Zhang L AD - Department of Bone and Soft Tissue Tumor, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, 100143, China. FAU - Wang, Yaohui AU - Wang Y AD - Department of Trauma, The Beijing Water Conservancy Hospital, Beijing, China. FAU - You, Xia AU - You X AD - The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, 210023, China. FAU - Ju, Yongzhi AU - Ju Y AD - The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, 210023, China. FAU - Sun, Tingting AU - Sun T AD - The State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd, Nanjing, 210023, China. FAU - Fan, Zhengfu AU - Fan Z AD - Department of Bone and Soft Tissue Tumor, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, 100143, China. fanzhengfu05@163.com. LA - eng PT - Case Reports PT - Letter DEP - 20220807 PL - Germany TA - J Cancer Res Clin Oncol JT - Journal of cancer research and clinical oncology JID - 7902060 RN - 0 (Biomarkers, Tumor) RN - 0 (Carrier Proteins) RN - 0 (Membrane Proteins) RN - 0 (NTRK3 protein, human) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (TMTC2 protein, human) RN - EC 2.7.10.1 (Receptor, trkC) SB - IM MH - Aged MH - Biomarkers, Tumor/genetics MH - *Bone Neoplasms MH - Carrier Proteins/genetics MH - Humans MH - Immunohistochemistry MH - In Situ Hybridization, Fluorescence MH - Male MH - Membrane Proteins/genetics MH - Oncogene Proteins, Fusion/genetics MH - Receptor, trkC/genetics MH - *Sarcoma/genetics/pathology MH - *Soft Tissue Neoplasms/drug therapy/genetics OTO - NOTNLM OT - Sarcoma OT - TMTC2-NTRK3 OT - Undifferentiated high-grade pleomorphic sarcoma (UHPS) EDAT- 2022/08/08 06:00 MHDA- 2022/09/16 06:00 CRDT- 2022/08/07 13:58 PHST- 2022/05/09 00:00 [received] PHST- 2022/08/02 00:00 [accepted] PHST- 2022/08/08 06:00 [pubmed] PHST- 2022/09/16 06:00 [medline] PHST- 2022/08/07 13:58 [entrez] AID - 10.1007/s00432-022-04249-x [pii] AID - 10.1007/s00432-022-04249-x [doi] PST - ppublish SO - J Cancer Res Clin Oncol. 2022 Oct;148(10):2933-2937. doi: 10.1007/s00432-022-04249-x. Epub 2022 Aug 7.