NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case report
Abstract Neurotrophic Tyrosine Receptor Kinase (NTRK)-rearranged spindle cell tumors are a category of soft tissue tumors characterized by rearrangements of the NTRK gene family (NTRK1, NTRK2, and NTRK3), which leads to distinct molecular genetics, morphological, and immunophenotypic characteristics...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Springer
2024-12-01
|
| Series: | Journal of Cancer Research and Clinical Oncology |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/s00432-024-06042-4 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1823863243427282944 |
|---|---|
| author | Mi Zhou Huaiyuan Xu Jianxiong Niu Qibing Yang Anqi Wang Hao Wu Xiangqin Wang Meng Yang Jinxin Hu Qinglian Tang Jin Wang |
| author_facet | Mi Zhou Huaiyuan Xu Jianxiong Niu Qibing Yang Anqi Wang Hao Wu Xiangqin Wang Meng Yang Jinxin Hu Qinglian Tang Jin Wang |
| author_sort | Mi Zhou |
| collection | DOAJ |
| description | Abstract Neurotrophic Tyrosine Receptor Kinase (NTRK)-rearranged spindle cell tumors are a category of soft tissue tumors characterized by rearrangements of the NTRK gene family (NTRK1, NTRK2, and NTRK3), which leads to distinct molecular genetics, morphological, and immunophenotypic characteristics. The central feature of these tumors is the fusion of NTRK genes with other genes, resulting in abnormal expression and activation of tropomyosin receptor kinase proteins. In this report, we present the first documented case of an NTRK spindle cell tumor with SPECC1L-NTRK3 fusion located in the thoracic spine. This case underscores the diagnostic and therapeutic importance of next-generation sequencing in identifying tumor-specific genetic alterations and selecting targeted therapies. Following 1 month of entrectinib treatment, the patient experienced considerable tumor shrinkage and symptomatic improvement. For bone-derived NTRK-rearranged spindle cell sarcomas, entrectinib shows promising therapeutic efficacy and should be considered a preferred treatment option. |
| format | Article |
| id | doaj-art-052e912022c24735b8704c47dacdd4fc |
| institution | Kabale University |
| issn | 1432-1335 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Springer |
| record_format | Article |
| series | Journal of Cancer Research and Clinical Oncology |
| spelling | doaj-art-052e912022c24735b8704c47dacdd4fc2025-02-09T12:10:21ZengSpringerJournal of Cancer Research and Clinical Oncology1432-13352024-12-0115111710.1007/s00432-024-06042-4NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case reportMi Zhou0Huaiyuan Xu1Jianxiong Niu2Qibing Yang3Anqi Wang4Hao Wu5Xiangqin Wang6Meng Yang7Jinxin Hu8Qinglian Tang9Jin Wang10Department of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterDepartment of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterDepartment of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterDepartment of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterDepartment of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterDepartment of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterDepartment of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterDepartment of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterDepartment of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterDepartment of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterDepartment of Musculoskeletal Oncology, Sun Yat-Sen University Cancer CenterAbstract Neurotrophic Tyrosine Receptor Kinase (NTRK)-rearranged spindle cell tumors are a category of soft tissue tumors characterized by rearrangements of the NTRK gene family (NTRK1, NTRK2, and NTRK3), which leads to distinct molecular genetics, morphological, and immunophenotypic characteristics. The central feature of these tumors is the fusion of NTRK genes with other genes, resulting in abnormal expression and activation of tropomyosin receptor kinase proteins. In this report, we present the first documented case of an NTRK spindle cell tumor with SPECC1L-NTRK3 fusion located in the thoracic spine. This case underscores the diagnostic and therapeutic importance of next-generation sequencing in identifying tumor-specific genetic alterations and selecting targeted therapies. Following 1 month of entrectinib treatment, the patient experienced considerable tumor shrinkage and symptomatic improvement. For bone-derived NTRK-rearranged spindle cell sarcomas, entrectinib shows promising therapeutic efficacy and should be considered a preferred treatment option.https://doi.org/10.1007/s00432-024-06042-4NTRK-rearranged spindle cell tumorMolecular characteristicsNTRK3Pathological reportSPECC1L |
| spellingShingle | Mi Zhou Huaiyuan Xu Jianxiong Niu Qibing Yang Anqi Wang Hao Wu Xiangqin Wang Meng Yang Jinxin Hu Qinglian Tang Jin Wang NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case report Journal of Cancer Research and Clinical Oncology NTRK-rearranged spindle cell tumor Molecular characteristics NTRK3 Pathological report SPECC1L |
| title | NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case report |
| title_full | NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case report |
| title_fullStr | NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case report |
| title_full_unstemmed | NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case report |
| title_short | NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case report |
| title_sort | ntrk rearranged spindle cell tumor with specc1l ntrk3 fusion in the thoracic spine a case report |
| topic | NTRK-rearranged spindle cell tumor Molecular characteristics NTRK3 Pathological report SPECC1L |
| url | https://doi.org/10.1007/s00432-024-06042-4 |
| work_keys_str_mv | AT mizhou ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport AT huaiyuanxu ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport AT jianxiongniu ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport AT qibingyang ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport AT anqiwang ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport AT haowu ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport AT xiangqinwang ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport AT mengyang ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport AT jinxinhu ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport AT qingliantang ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport AT jinwang ntrkrearrangedspindlecelltumorwithspecc1lntrk3fusioninthethoracicspineacasereport |