Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas

Detalhes bibliográficos
Autor(a) principal: Matos, Maria de Lurdes
Data de Publicação: 2024
Outros Autores: Pinto, Mafalda, Alves, Marta, Canberk, Sule, Gonçalves, Ana, Bugalho, Maria João, Papoila, A.L., Soares, Paula
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/164575
Resumo: Funding Information: This research received funding for SC, in the framework of a Ph.D. grant (SFRH/BD/147650/2019) supported by Portuguese funds through Fundação para a Ciência e a Tecnologia (FCT). This study is part of the project “Institute for Research and Innovation in Health Sciences” (UID/BIM/04293/2019) and the project “The Porto Comprehensive Cancer Center” ref. NORTE-01-0145-FEDER-072678—Consórcio PORTO.CCC—Porto. Comprehensive Cancer Center Raquel Seruca. Publisher Copyright: © 2024 by the authors.
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spelling Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid CarcinomasBRAFdifferentiated thyroid carcinomas (DTCs)geneticsindeterminate nodulespapillary thyroid carcinomas (PTCs)RASTERTultrasound-guided fine needle aspiration cytology (US-FNAC)Clinical BiochemistryFunding Information: This research received funding for SC, in the framework of a Ph.D. grant (SFRH/BD/147650/2019) supported by Portuguese funds through Fundação para a Ciência e a Tecnologia (FCT). This study is part of the project “Institute for Research and Innovation in Health Sciences” (UID/BIM/04293/2019) and the project “The Porto Comprehensive Cancer Center” ref. NORTE-01-0145-FEDER-072678—Consórcio PORTO.CCC—Porto. Comprehensive Cancer Center Raquel Seruca. Publisher Copyright: © 2024 by the authors.Introduction: Molecular tests can contribute to improve the preoperative diagnosis of thyroid nodules. Tests available are expensive and not adapted to different populations. Aim: This study aimed to compare the cyto-histological genetic profile and to evaluate the reliability of molecular tests using ultrasound-guided fine needle aspiration cytology (US-FNAC) in accurately diagnosing differentiated thyroid carcinomas (DTCs) and predicting biologic behavior of papillary thyroid carcinomas (PTCs). Materials and Methods: The series included 259 patients with paired cyto-histological samples totaling 518 samples. The genetic alterations were analyzed via PCR/Sanger sequencing. The association with clinicopathologic features was evaluated in PTCs. Results/Discussion: From the 259 patients included, histologies were 50 (19.3%) benign controls and 209 (80.7%) DTC cases, from which 182 were PTCs; cytologies were 5.8% non-diagnostic, 18.2% benign, 39% indeterminate, and 37.1% malignant. In histology, indeterminate nodules (n = 101) were 22.8% benign and 77.2% malignant. Mutation frequencies in cytology and histology specimens were, respectively, TERTp: 3.7% vs. 7.9%; BRAF: 19.5% vs. 25.1%; and RAS: 11% vs. 17.5%. The overall cyto-histological agreement of the genetic mutations was 94.9%, with Cohen’s k = 0.67, and in indeterminate nodules agreement was 95.7%, k = 0.64. The identified mutations exhibited a discriminative ability in diagnosing DTC with a specificity of 100% for TERTp and BRAF, and of 94% for RAS, albeit with low sensitivity. TERTp and BRAF mutations were associated with aggressive clinicopathological features and tumor progression in PTCs (p < 0.001). The obtained good cyto-histological agreement suggests that molecular analysis via US-FNAC may anticipate the genetic profile and the behavior of thyroid tumors, confirming malignancy and contributing to referring patients to surgery.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNMatos, Maria de LurdesPinto, MafaldaAlves, MartaCanberk, SuleGonçalves, AnaBugalho, Maria JoãoPapoila, A.L.Soares, Paula2024-03-07T00:00:05Z2024-022024-02-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/164575eng2075-4418PURE: 84622533https://doi.org/10.3390/diagnostics14030278info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:53:14Zoai:run.unl.pt:10362/164575Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T04:00:15.826770Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas
title Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas
spellingShingle Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas
Matos, Maria de Lurdes
BRAF
differentiated thyroid carcinomas (DTCs)
genetics
indeterminate nodules
papillary thyroid carcinomas (PTCs)
RAS
TERT
ultrasound-guided fine needle aspiration cytology (US-FNAC)
Clinical Biochemistry
title_short Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas
title_full Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas
title_fullStr Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas
title_full_unstemmed Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas
title_sort Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas
author Matos, Maria de Lurdes
author_facet Matos, Maria de Lurdes
Pinto, Mafalda
Alves, Marta
Canberk, Sule
Gonçalves, Ana
Bugalho, Maria João
Papoila, A.L.
Soares, Paula
author_role author
author2 Pinto, Mafalda
Alves, Marta
Canberk, Sule
Gonçalves, Ana
Bugalho, Maria João
Papoila, A.L.
Soares, Paula
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Matos, Maria de Lurdes
Pinto, Mafalda
Alves, Marta
Canberk, Sule
Gonçalves, Ana
Bugalho, Maria João
Papoila, A.L.
Soares, Paula
dc.subject.por.fl_str_mv BRAF
differentiated thyroid carcinomas (DTCs)
genetics
indeterminate nodules
papillary thyroid carcinomas (PTCs)
RAS
TERT
ultrasound-guided fine needle aspiration cytology (US-FNAC)
Clinical Biochemistry
topic BRAF
differentiated thyroid carcinomas (DTCs)
genetics
indeterminate nodules
papillary thyroid carcinomas (PTCs)
RAS
TERT
ultrasound-guided fine needle aspiration cytology (US-FNAC)
Clinical Biochemistry
description Funding Information: This research received funding for SC, in the framework of a Ph.D. grant (SFRH/BD/147650/2019) supported by Portuguese funds through Fundação para a Ciência e a Tecnologia (FCT). This study is part of the project “Institute for Research and Innovation in Health Sciences” (UID/BIM/04293/2019) and the project “The Porto Comprehensive Cancer Center” ref. NORTE-01-0145-FEDER-072678—Consórcio PORTO.CCC—Porto. Comprehensive Cancer Center Raquel Seruca. Publisher Copyright: © 2024 by the authors.
publishDate 2024
dc.date.none.fl_str_mv 2024-03-07T00:00:05Z
2024-02
2024-02-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/164575
url http://hdl.handle.net/10362/164575
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2075-4418
PURE: 84622533
https://doi.org/10.3390/diagnostics14030278
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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