Practical Guidance on the Detection of NTRK Fusions in Sarcomas
| Main Author: | |
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| Publication Date: | 2025 |
| Other Authors: | , , , , , , , , , , , , , , , , , , , , |
| Format: | Article |
| Language: | eng |
| Source: | Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) |
| Download full: | http://hdl.handle.net/10362/182103 |
Summary: | Publisher Copyright: © 2025 CELOM. All rights reserved. |
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Practical Guidance on the Detection of NTRK Fusions in SarcomasCurrent Status and Diagnostic ChallengesGene FusionOncogene Proteins, Fusion/geneticsReceptor, trkA/geneticsSarcoma/geneticsMedicine(all)SDG 3 - Good Health and Well-beingPublisher Copyright: © 2025 CELOM. All rights reserved.Sarcomas are a rare and heterogeneous group of mesenchymal malignant tumors and account for approximately 1% of all adult cancers and around 20% of all pediatric solid tumors in Europe. Technology advances have enabled a more accurate and efficient characterization of the molecular mechanisms underlying the pathogenesis of sarcoma subtypes and revealed novel and unexpected therapeutic targets with prognostic/predictive biomarkers, namely the neurotrophic tyrosine receptor kinase (NTRK) gene fusion. The NTRK fusion assessment has recently become a standard part of management for patients with unresectable locally advanced or metastatic cancers and has been identified in various tumor types. In the more prevalent adult and pediatric sarcomas, NTRK fusions are present in 1% and 20%, respectively, and in more than 90% of very rare subsets of tumors. The inhibition of TRK activity with first-generation TRK inhibitors has been found to be effective and well tolerated in adult and pediatric patients, independently of the tumor type. Overall, the therapeutic benefit to those patients compensates for the difficulties of identifying NTRK gene fusions. However, the rarity and diagnostic complexity of NTRK gene fusions raise several questions and challenges for clinicians. To address these issues, an expert panel of medical and pediatric oncologists, radiologists, surgeons, orthopedists, and pathologists reviewed the recent literature and discussed the current status and challenges, proposing a diagnostic algorithm for identifying NTRK fusion sarcomas. The aim of this article is to review the updated information on this issue and to provide the experts’ recommendations and practical guidance on the optimal management of patients with soft tissue sarcomas, infantile fibrosarcoma, gastrointestinal stromal tumors, and osteosarcoma.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)Comprehensive Health Research Centre (CHRC) - pólo NMSRUNFernandes, IsabelMacedo, DanielaGouveia, EmanuelFerreira, AnaLima, JorgeLopez, DoloresMelo-Alvim, CecíliaCarvalho, AliceTavares, PauloRodrigues-Santos, PauloCardoso, PedroMagalhães, ManuelVieira, PaulaBrito, JoaquimMendes, CristinaRodrigues, JoanaNetto, EduardoOliveira, VâniaSousa, CatarinaHenriques Abreu, MiguelPina, FilomenaVasques, Hugo2025-04-10T16:03:12Z2025-042025-04-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10application/pdfhttp://hdl.handle.net/10362/182103eng0870-399XPURE: 114641541https://doi.org/10.20344/amp.21925info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-04-28T01:33:28Zoai:run.unl.pt:10362/182103Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T06:26:02.784715Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse |
| dc.title.none.fl_str_mv |
Practical Guidance on the Detection of NTRK Fusions in Sarcomas Current Status and Diagnostic Challenges |
| title |
Practical Guidance on the Detection of NTRK Fusions in Sarcomas |
| spellingShingle |
Practical Guidance on the Detection of NTRK Fusions in Sarcomas Fernandes, Isabel Gene Fusion Oncogene Proteins, Fusion/genetics Receptor, trkA/genetics Sarcoma/genetics Medicine(all) SDG 3 - Good Health and Well-being |
| title_short |
Practical Guidance on the Detection of NTRK Fusions in Sarcomas |
| title_full |
Practical Guidance on the Detection of NTRK Fusions in Sarcomas |
| title_fullStr |
Practical Guidance on the Detection of NTRK Fusions in Sarcomas |
| title_full_unstemmed |
Practical Guidance on the Detection of NTRK Fusions in Sarcomas |
| title_sort |
Practical Guidance on the Detection of NTRK Fusions in Sarcomas |
| author |
Fernandes, Isabel |
| author_facet |
Fernandes, Isabel Macedo, Daniela Gouveia, Emanuel Ferreira, Ana Lima, Jorge Lopez, Dolores Melo-Alvim, Cecília Carvalho, Alice Tavares, Paulo Rodrigues-Santos, Paulo Cardoso, Pedro Magalhães, Manuel Vieira, Paula Brito, Joaquim Mendes, Cristina Rodrigues, Joana Netto, Eduardo Oliveira, Vânia Sousa, Catarina Henriques Abreu, Miguel Pina, Filomena Vasques, Hugo |
| author_role |
author |
| author2 |
Macedo, Daniela Gouveia, Emanuel Ferreira, Ana Lima, Jorge Lopez, Dolores Melo-Alvim, Cecília Carvalho, Alice Tavares, Paulo Rodrigues-Santos, Paulo Cardoso, Pedro Magalhães, Manuel Vieira, Paula Brito, Joaquim Mendes, Cristina Rodrigues, Joana Netto, Eduardo Oliveira, Vânia Sousa, Catarina Henriques Abreu, Miguel Pina, Filomena Vasques, Hugo |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) Comprehensive Health Research Centre (CHRC) - pólo NMS RUN |
| dc.contributor.author.fl_str_mv |
Fernandes, Isabel Macedo, Daniela Gouveia, Emanuel Ferreira, Ana Lima, Jorge Lopez, Dolores Melo-Alvim, Cecília Carvalho, Alice Tavares, Paulo Rodrigues-Santos, Paulo Cardoso, Pedro Magalhães, Manuel Vieira, Paula Brito, Joaquim Mendes, Cristina Rodrigues, Joana Netto, Eduardo Oliveira, Vânia Sousa, Catarina Henriques Abreu, Miguel Pina, Filomena Vasques, Hugo |
| dc.subject.por.fl_str_mv |
Gene Fusion Oncogene Proteins, Fusion/genetics Receptor, trkA/genetics Sarcoma/genetics Medicine(all) SDG 3 - Good Health and Well-being |
| topic |
Gene Fusion Oncogene Proteins, Fusion/genetics Receptor, trkA/genetics Sarcoma/genetics Medicine(all) SDG 3 - Good Health and Well-being |
| description |
Publisher Copyright: © 2025 CELOM. All rights reserved. |
| publishDate |
2025 |
| dc.date.none.fl_str_mv |
2025-04-10T16:03:12Z 2025-04 2025-04-01T00:00:00Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://hdl.handle.net/10362/182103 |
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http://hdl.handle.net/10362/182103 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
0870-399X PURE: 114641541 https://doi.org/10.20344/amp.21925 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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10 application/pdf |
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RCAAP |
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