Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor
Neurotrophic tyrosine receptor kinase (NTRK) rearrangements are oncogenic drivers of various types of adult and pediatric tumors, including gliomas. However, NTRK rearrangements are extremely rare in glioneuronal tumors. Here, we report a novel NTRK2 rearrangement in a 24-year-old female with dysemb...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-12-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2022.1064817/full |
| _version_ | 1811214245346410496 |
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| author | Yanming Chen Qing Zhu Ye Wang Xiaoxiao Dai Ping Chen Ailin Chen Sujuan Zhou Sujuan Zhou Chungang Dai Shengbin Zhao Sheng Xiao Qing Lan |
| author_facet | Yanming Chen Qing Zhu Ye Wang Xiaoxiao Dai Ping Chen Ailin Chen Sujuan Zhou Sujuan Zhou Chungang Dai Shengbin Zhao Sheng Xiao Qing Lan |
| author_sort | Yanming Chen |
| collection | DOAJ |
| description | Neurotrophic tyrosine receptor kinase (NTRK) rearrangements are oncogenic drivers of various types of adult and pediatric tumors, including gliomas. However, NTRK rearrangements are extremely rare in glioneuronal tumors. Here, we report a novel NTRK2 rearrangement in a 24-year-old female with dysembryoplastic neuroepithelial tumor (DNT), a circumscribed WHO grade I benign tumor associated with epilepsy. By utilizing targeted RNA next-generation sequencing (NGS), fluorescence in situ hybridization (FISH), reverse transcriptase PCR (RT-PCR), and Sanger sequencing, we verified an in-frame fusion between NTRK2 and the lipoma HMGIC fusion partner-like 3 (LHFPL3). This oncogenic gene rearrangement involves 5’ LHFPL3 and 3’ NTRK2, retaining the entire tyrosine kinase domain of NTRK2 genes. Moreover, the targeted DNA NGS analysis revealed an IDH1 (p.R132H) mutation, a surprising finding in this type of tumor. The pathogenic mechanism of the LHFPL3::NTRK2 in this case likely involves aberrant dimerization and constitutive activation of RTK signaling pathways. |
| first_indexed | 2024-04-12T06:01:15Z |
| format | Article |
| id | doaj.art-16584d7c9f904f249c1dc329500dc2db |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-12T06:01:15Z |
| publishDate | 2022-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-16584d7c9f904f249c1dc329500dc2db2022-12-22T03:45:02ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2022-12-011210.3389/fonc.2022.10648171064817Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumorYanming Chen0Qing Zhu1Ye Wang2Xiaoxiao Dai3Ping Chen4Ailin Chen5Sujuan Zhou6Sujuan Zhou7Chungang Dai8Shengbin Zhao9Sheng Xiao10Qing Lan11Department of Neurosurgery, The Second Affiliated Hospital of Soochow University, Suzhou, ChinaDepartment of Neurosurgery, The Second Affiliated Hospital of Soochow University, Suzhou, ChinaHeath Management Center, The Second Affiliated Hospital of Soochow University, Suzhou, ChinaDepartment of Pathology, The Second Affiliated Hospital of Soochow University, Suzhou, ChinaMolecular Genetics Laboratory, Suzhou Sano Precision Medicine Ltd., Suzhou, ChinaDepartment of Neurosurgery, The Second Affiliated Hospital of Soochow University, Suzhou, ChinaMolecular Genetics Laboratory, Suzhou Sano Precision Medicine Ltd., Suzhou, ChinaPathology and Pathophysiology, Soochow University Medical College, Suzhou, ChinaDepartment of Neurosurgery, The Second Affiliated Hospital of Soochow University, Suzhou, ChinaMolecular Genetics Laboratory, Suzhou Sano Precision Medicine Ltd., Suzhou, ChinaDepartment of Pathology, Brigham and Women’s Hospital, Boston, BS, United StatesDepartment of Neurosurgery, The Second Affiliated Hospital of Soochow University, Suzhou, ChinaNeurotrophic tyrosine receptor kinase (NTRK) rearrangements are oncogenic drivers of various types of adult and pediatric tumors, including gliomas. However, NTRK rearrangements are extremely rare in glioneuronal tumors. Here, we report a novel NTRK2 rearrangement in a 24-year-old female with dysembryoplastic neuroepithelial tumor (DNT), a circumscribed WHO grade I benign tumor associated with epilepsy. By utilizing targeted RNA next-generation sequencing (NGS), fluorescence in situ hybridization (FISH), reverse transcriptase PCR (RT-PCR), and Sanger sequencing, we verified an in-frame fusion between NTRK2 and the lipoma HMGIC fusion partner-like 3 (LHFPL3). This oncogenic gene rearrangement involves 5’ LHFPL3 and 3’ NTRK2, retaining the entire tyrosine kinase domain of NTRK2 genes. Moreover, the targeted DNA NGS analysis revealed an IDH1 (p.R132H) mutation, a surprising finding in this type of tumor. The pathogenic mechanism of the LHFPL3::NTRK2 in this case likely involves aberrant dimerization and constitutive activation of RTK signaling pathways.https://www.frontiersin.org/articles/10.3389/fonc.2022.1064817/fulldysembryoplastic neuroepithelial tumorsNTRK2LHFPL3next-generation sequencingIDH1 |
| spellingShingle | Yanming Chen Qing Zhu Ye Wang Xiaoxiao Dai Ping Chen Ailin Chen Sujuan Zhou Sujuan Zhou Chungang Dai Shengbin Zhao Sheng Xiao Qing Lan Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor Frontiers in Oncology dysembryoplastic neuroepithelial tumors NTRK2 LHFPL3 next-generation sequencing IDH1 |
| title | Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor |
| title_full | Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor |
| title_fullStr | Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor |
| title_full_unstemmed | Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor |
| title_short | Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor |
| title_sort | case report a novel lhfpl3 ntrk2 fusion in dysembryoplastic neuroepithelial tumor |
| topic | dysembryoplastic neuroepithelial tumors NTRK2 LHFPL3 next-generation sequencing IDH1 |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2022.1064817/full |
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