Publicação
Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas
| Resumo: | 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. |
|---|---|
| Autores principais: | Matos, Maria de Lurdes |
| Outros Autores: | Pinto, Mafalda; Alves, Marta; Alves, Marta; Canberk, Sule; Canberk, Sule; Gonçalves, Ana; Bugalho, Maria João; Bugalho, Maria João; Papoila, Ana Luísa; Papoila, A.L.; Soares, Paula; Soares, Paula |
| Assunto: | BRAF differentiated thyroid carcinomas (DTCs) genetics indeterminate nodules papillary thyroid carcinomas (PTCs) RAS TERT ultrasound-guided fine needle aspiration cytology (US-FNAC) Clinical Biochemistry |
| Ano: | 2024 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Universidade Nova de Lisboa |
| Idioma: | inglês |
| Origem: | Repositório Institucional da UNL |
| _version_ | 1868415043706552320 |
|---|---|
| author | Matos, Maria de Lurdes |
| author2 | Pinto, Mafalda Alves, Marta Alves, Marta Canberk, Sule Canberk, Sule Gonçalves, Ana Bugalho, Maria João Bugalho, Maria João Papoila, Ana Luísa Papoila, A.L. Soares, Paula Soares, Paula |
| author2_role | author author author author author author author author author author author author |
| author_facet | Matos, Maria de Lurdes Pinto, Mafalda Alves, Marta Alves, Marta Canberk, Sule Canberk, Sule Gonçalves, Ana Bugalho, Maria João Bugalho, Maria João Papoila, Ana Luísa Papoila, A.L. Soares, Paula Soares, Paula |
| author_role | author |
| contributor_name_str_mv | NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) MDPI - Multidisciplinary Digital Publishing Institute RUN |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Matos, Maria de Lurdes\"},{\"Person.name\":\"Pinto, Mafalda\"},{\"Person.name\":\"Alves, Marta\"},{\"Person.name\":\"Alves, Marta\",\"Person.identifier.orcid\":\"0000-0002-7421-8550\"},{\"Person.name\":\"Canberk, Sule\"},{\"Person.name\":\"Canberk, Sule\",\"Person.identifier.orcid\":\"0000-0002-3736-1323\"},{\"Person.name\":\"Gonçalves, Ana\"},{\"Person.name\":\"Bugalho, Maria João\"},{\"Person.name\":\"Bugalho, Maria João\",\"Person.identifier.orcid\":\"0000-0003-0357-7350\"},{\"Person.name\":\"Papoila, Ana Luísa\"},{\"Person.name\":\"Papoila, A.L.\",\"Person.identifier.orcid\":\"0000-0002-2918-8364\"},{\"Person.name\":\"Soares, Paula\"},{\"Person.name\":\"Soares, Paula\",\"Person.identifier.orcid\":\"0000-0001-9607-6998\"}] |
| datacite.contributors.contributor.contributorName.fl_str_mv | NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) MDPI - Multidisciplinary Digital Publishing Institute RUN |
| datacite.creators.creator.creatorName.fl_str_mv | Matos, Maria de Lurdes Pinto, Mafalda Alves, Marta Alves, Marta Canberk, Sule Canberk, Sule Gonçalves, Ana Bugalho, Maria João Bugalho, Maria João Papoila, Ana Luísa Papoila, A.L. Soares, Paula Soares, Paula |
| datacite.date.Accepted.fl_str_mv | 2024-02-01T00:00:00Z |
| datacite.date.available.fl_str_mv | 2024-03-07T00:00:05Z |
| datacite.date.embargoed.fl_str_mv | 2024-03-07T00:00:05Z |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| datacite.subjects.subject.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 |
| datacite.titles.title.fl_str_mv | Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas |
| dc.contributor.none.fl_str_mv | NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) MDPI - Multidisciplinary Digital Publishing Institute RUN |
| dc.creator.none.fl_str_mv | Matos, Maria de Lurdes Pinto, Mafalda Alves, Marta Alves, Marta Canberk, Sule Canberk, Sule Gonçalves, Ana Bugalho, Maria João Bugalho, Maria João Papoila, Ana Luísa Papoila, A.L. Soares, Paula Soares, Paula |
| dc.date.Accepted.fl_str_mv | 2024-02-01T00:00:00Z |
| dc.date.available.fl_str_mv | 2024-03-07T00:00:05Z |
| dc.date.embargoed.fl_str_mv | 2024-03-07T00:00:05Z |
| dc.format.none.fl_str_mv | application/pdf |
| dc.identifier.none.fl_str_mv | http://hdl.handle.net/10362/164575 |
| dc.language.none.fl_str_mv | eng |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| dc.subject.none.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 |
| dc.title.fl_str_mv | Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_6501 |
| description | 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. |
| dirty | 0 |
| eu_rights_str_mv | openAccess |
| format | article |
| fulltext.url.fl_str_mv | https://run.unl.pt/bitstreams/a7e15958-8c83-4943-adfd-1edf9969240d/download |
| id | run_52fa4d35ea23320c94ddf7dedae3ebee |
| identifier.url.fl_str_mv | http://hdl.handle.net/10362/164575 |
| instacron_str | unl |
| institution | Universidade Nova de Lisboa |
| instname_str | Universidade Nova de Lisboa |
| language | eng |
| network_acronym_str | run |
| network_name_str | Repositório Institucional da UNL |
| oai_identifier_str | oai:run.unl.pt:10362/164575 |
| organization_str_mv | urn:organizationAcronym:unl |
| person_str_mv | Matos, Maria de Lurdes Pinto, Mafalda Alves, Marta Alves, Marta Alves, Marta https://www.ciencia-id.pt/851A-750C-73C2 851A-750C-73C2 http://orcid.org/0000-0002-7421-8550 0000-0002-7421-8550 Canberk, Sule Canberk, Sule Canberk, Sule https://www.ciencia-id.pt/2F1A-4173-9A5B 2F1A-4173-9A5B http://orcid.org/0000-0002-3736-1323 0000-0002-3736-1323 Gonçalves, Ana Bugalho, Maria João Bugalho, Maria João Bugalho, Maria João https://www.ciencia-id.pt/D51C-30D5-71FC D51C-30D5-71FC http://orcid.org/0000-0003-0357-7350 0000-0003-0357-7350 Papoila, Ana Luísa Papoila, A.L. Papoila, A.L. https://www.ciencia-id.pt/251C-0273-1068 251C-0273-1068 http://orcid.org/0000-0002-2918-8364 0000-0002-2918-8364 Soares, Paula Soares, Paula Soares, Paula https://www.ciencia-id.pt/571D-96F7-0457 571D-96F7-0457 http://orcid.org/0000-0001-9607-6998 0000-0001-9607-6998 |
| publishDate | 2024 |
| reponame_str | Repositório Institucional da UNL |
| repository_id_str | urn:repositoryAcronym:run |
| service_str_mv | urn:repositoryAcronym:run |
| spelling | engenIntroduction: 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.application/pdfenComparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid CarcinomasMatos, Maria de LurdesPinto, MafaldaAlves, MartaPersonalAlves, MartaDSpacehttp://dspace.org/items/f09bebb2-3725-45e4-af7d-3cac4bc2b06bDSpacehttp://dspace.org/items/f09bebb2-3725-45e4-af7d-3cac4bc2b06bAlvesMartaCiência IDhttps://www.ciencia-id.pt851A-750C-73C2ORCIDhttp://orcid.org0000-0002-7421-8550Researcher IDhttps://www.researcherid.comP-2486-2016Scopus Author IDhttps://www.scopus.com55762063400Canberk, SulePersonalCanberk, SuleDSpacehttp://dspace.org/items/a7fc6cc3-dd33-4fe0-ad50-1af47aa6628dDSpacehttp://dspace.org/items/a7fc6cc3-dd33-4fe0-ad50-1af47aa6628dcanberksuleCiência IDhttps://www.ciencia-id.pt2F1A-4173-9A5BORCIDhttp://orcid.org0000-0002-3736-1323Scopus Author IDhttps://www.scopus.com15842998100Gonçalves, AnaBugalho, Maria JoãoPersonalBugalho, Maria JoãoDSpacehttp://dspace.org/items/939c1772-e72e-4641-b0fa-e375aff67bc1DSpacehttp://dspace.org/items/939c1772-e72e-4641-b0fa-e375aff67bc1BugalhoMaria JoãoCiência IDhttps://www.ciencia-id.ptD51C-30D5-71FCORCIDhttp://orcid.org0000-0003-0357-7350Scopus Author IDhttps://www.scopus.com35582359500Papoila, Ana LuísaPersonalPapoila, A.L.DSpacehttp://dspace.org/items/5ce1bd05-e7a4-4bd0-9527-f511c0889095DSpacehttp://dspace.org/items/5ce1bd05-e7a4-4bd0-9527-f511c0889095PapoilaAna LuisaCiência IDhttps://www.ciencia-id.pt251C-0273-1068ORCIDhttp://orcid.org0000-0002-2918-8364Researcher IDhttps://www.researcherid.comS-2515-2016Scopus Author IDhttps://www.scopus.com6507532321Soares, PaulaPersonalSoares, PaulaDSpacehttp://dspace.org/items/a98dc4f7-a5f2-448b-8221-43cea1ae11dbDSpacehttp://dspace.org/items/a98dc4f7-a5f2-448b-8221-43cea1ae11dbSoaresPaulaCiência IDhttps://www.ciencia-id.pt571D-96F7-0457ORCIDhttp://orcid.org0000-0001-9607-6998Researcher IDhttps://www.researcherid.comB-6054-2008Scopus Author IDhttps://www.scopus.com35478020200Scopus Author IDhttps://www.scopus.com57195213812NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)MDPI - Multidisciplinary Digital Publishing InstituteHostingInstitutionOrganizationalRUNe-mailmailto:run@unl.ptrun@unl.ptISSNIsPartOf2075-4418URNIsPartOfPURE: 84622533URNIsPartOfPURE UUID: afed6a04-a136-4b3d-aa90-418b00aedd98URNIsPartOfScopus: 85184683629DOIIsPartOf10.3390/diagnostics140302782024-03-07T00:00:05Z2024-022024-02-01T00:00:00ZHandlehttp://hdl.handle.net/10362/164575http://purl.org/coar/access_right/c_abf2open accessBRAFdifferentiated thyroid carcinomas (DTCs)geneticsindeterminate nodulespapillary thyroid carcinomas (PTCs)RASTERTultrasound-guided fine needle aspiration cytology (US-FNAC)Clinical Biochemistry302248 bytesliteraturehttp://purl.org/coar/resource_type/c_6501journal articlehttp://purl.org/coar/access_right/c_abf2application/pdffulltexthttps://run.unl.pt/bitstreams/a7e15958-8c83-4943-adfd-1edf9969240d/download |
| 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 |
| status | SINGLETON |
| subject.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 |
| title | 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_short | 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 |
| 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 |
| topic_facet | BRAF differentiated thyroid carcinomas (DTCs) genetics indeterminate nodules papillary thyroid carcinomas (PTCs) RAS TERT ultrasound-guided fine needle aspiration cytology (US-FNAC) Clinical Biochemistry |
| url | http://hdl.handle.net/10362/164575 |
| visible | 1 |