Analysis of BRAF Point Mutation and RET/PTC Rearrangement Refines the Fine-Needle Aspiration Diagnosis of Papillary Thyroid Carcinoma
Point mutations in BRAF are genetic hallmarks of papillary thyroid carcinoma (PTC). In this retrospective study, we examined thyroid aspirates and corresponding paraffin-embedded surgical samples for the presence of BRAF mutations. Altogether, we examined 96 cases, including 69 PTCs, 19 follicular a...
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| Veröffentlicht in: | The journal of clinical endocrinology and metabolism 2004-10, Vol.89 (10), p.5175-5180 |
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| creator | Salvatore, Giuliana Giannini, Riccardo Faviana, Pinuccia Caleo, Alessia Migliaccio, Ilenia Fagin, James A. Nikiforov, Yuri E. Troncone, Giancarlo Palombini, Lucio Basolo, Fulvio Santoro, Massimo |
| description | Point mutations in BRAF are genetic hallmarks of papillary thyroid carcinoma (PTC). In this retrospective study, we examined thyroid aspirates and corresponding paraffin-embedded surgical samples for the presence of BRAF mutations. Altogether, we examined 96 cases, including 69 PTCs, 19 follicular adenomas, and eight nontoxic nodular goiters for BRAF; 60 of these samples were also examined for RET/PTC rearrangements. The results were correlated with the cytological diagnosis and the final histopathology. The BRAF mutation (V599E) was detected in 38% of the samples that were PTC on histopathology; RET/PTC was found in 18% of the PTC cases. In all the cases, the presence of the genetic alteration was confirmed in the surgically resected tumor. The identification of BRAF mutation and RET/PTC refined the diagnosis of PTC in five of 15 samples that were considered either indeterminate or insufficient at cytology. No mutation was found in aspirates of follicular adenomas and nontoxic nodular goiters. These results indicate that BRAF mutation and RET/PTC rearrangements are molecular markers of PTC that can be applied to FNA in adjunct to traditional cytology. |
| doi_str_mv | 10.1210/jc.2003-032221 |
| format | Article |
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In this retrospective study, we examined thyroid aspirates and corresponding paraffin-embedded surgical samples for the presence of BRAF mutations. Altogether, we examined 96 cases, including 69 PTCs, 19 follicular adenomas, and eight nontoxic nodular goiters for BRAF; 60 of these samples were also examined for RET/PTC rearrangements. The results were correlated with the cytological diagnosis and the final histopathology. The BRAF mutation (V599E) was detected in 38% of the samples that were PTC on histopathology; RET/PTC was found in 18% of the PTC cases. In all the cases, the presence of the genetic alteration was confirmed in the surgically resected tumor. The identification of BRAF mutation and RET/PTC refined the diagnosis of PTC in five of 15 samples that were considered either indeterminate or insufficient at cytology. No mutation was found in aspirates of follicular adenomas and nontoxic nodular goiters. These results indicate that BRAF mutation and RET/PTC rearrangements are molecular markers of PTC that can be applied to FNA in adjunct to traditional cytology.</description><identifier>ISSN: 0021-972X</identifier><identifier>EISSN: 1945-7197</identifier><identifier>DOI: 10.1210/jc.2003-032221</identifier><identifier>PMID: 15472223</identifier><identifier>CODEN: JCEMAZ</identifier><language>eng</language><publisher>Bethesda, MD: Endocrine Society</publisher><subject>Adenoma - genetics ; Adenoma - pathology ; Adult ; Biological and medical sciences ; Biomarkers, Tumor - genetics ; Biopsy, Fine-Needle ; Carcinoma, Papillary - genetics ; Carcinoma, Papillary - pathology ; Endocrinopathies ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Rearrangement ; Humans ; Male ; Medical sciences ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Oncogene Proteins - genetics ; Oncogene Proteins, Fusion ; Point Mutation ; Protein-Tyrosine Kinases ; Proto-Oncogene Proteins B-raf - genetics ; Retrospective Studies ; Thyroid Neoplasms - genetics ; Thyroid Neoplasms - pathology ; Thyroid. Thyroid axis (diseases) ; Vertebrates: endocrinology</subject><ispartof>The journal of clinical endocrinology and metabolism, 2004-10, Vol.89 (10), p.5175-5180</ispartof><rights>Copyright © 2004 by The Endocrine Society</rights><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5183-623c0e8e0b034612a6a6c0226887d024d935a8cfd8742952debc86d7338c76073</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16180159$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15472223$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Salvatore, Giuliana</creatorcontrib><creatorcontrib>Giannini, Riccardo</creatorcontrib><creatorcontrib>Faviana, Pinuccia</creatorcontrib><creatorcontrib>Caleo, Alessia</creatorcontrib><creatorcontrib>Migliaccio, Ilenia</creatorcontrib><creatorcontrib>Fagin, James A.</creatorcontrib><creatorcontrib>Nikiforov, Yuri E.</creatorcontrib><creatorcontrib>Troncone, Giancarlo</creatorcontrib><creatorcontrib>Palombini, Lucio</creatorcontrib><creatorcontrib>Basolo, Fulvio</creatorcontrib><creatorcontrib>Santoro, Massimo</creatorcontrib><title>Analysis of BRAF Point Mutation and RET/PTC Rearrangement Refines the Fine-Needle Aspiration Diagnosis of Papillary Thyroid Carcinoma</title><title>The journal of clinical endocrinology and metabolism</title><addtitle>J Clin Endocrinol Metab</addtitle><description>Point mutations in BRAF are genetic hallmarks of papillary thyroid carcinoma (PTC). In this retrospective study, we examined thyroid aspirates and corresponding paraffin-embedded surgical samples for the presence of BRAF mutations. Altogether, we examined 96 cases, including 69 PTCs, 19 follicular adenomas, and eight nontoxic nodular goiters for BRAF; 60 of these samples were also examined for RET/PTC rearrangements. The results were correlated with the cytological diagnosis and the final histopathology. The BRAF mutation (V599E) was detected in 38% of the samples that were PTC on histopathology; RET/PTC was found in 18% of the PTC cases. In all the cases, the presence of the genetic alteration was confirmed in the surgically resected tumor. The identification of BRAF mutation and RET/PTC refined the diagnosis of PTC in five of 15 samples that were considered either indeterminate or insufficient at cytology. No mutation was found in aspirates of follicular adenomas and nontoxic nodular goiters. These results indicate that BRAF mutation and RET/PTC rearrangements are molecular markers of PTC that can be applied to FNA in adjunct to traditional cytology.</description><subject>Adenoma - genetics</subject><subject>Adenoma - pathology</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Biomarkers, Tumor - genetics</subject><subject>Biopsy, Fine-Needle</subject><subject>Carcinoma, Papillary - genetics</subject><subject>Carcinoma, Papillary - pathology</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Rearrangement</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Oncogene Proteins - genetics</subject><subject>Oncogene Proteins, Fusion</subject><subject>Point Mutation</subject><subject>Protein-Tyrosine Kinases</subject><subject>Proto-Oncogene Proteins B-raf - genetics</subject><subject>Retrospective Studies</subject><subject>Thyroid Neoplasms - genetics</subject><subject>Thyroid Neoplasms - pathology</subject><subject>Thyroid. Thyroid axis (diseases)</subject><subject>Vertebrates: endocrinology</subject><issn>0021-972X</issn><issn>1945-7197</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kc2O0zAUhSMEYsrAliXyBnbp-CdxnGUpUxhpgKoqEjvLtW-mLokd7ESjPgDvjatEmtVYsmxL3zk-OjfL3hO8JJTgm5NeUoxZjhmllLzIFqQuyrwidfUyW2BMSV5X9PdV9ibGE8akKEr2OrsiZVElni2yfyun2nO0EfkGfd6tNmjrrRvQ93FQg_UOKWfQ7nZ_s92v0Q5UCMo9QAcJ2UFjHUQ0HAFt0i3_AWBaQKvY2zCJv1j14PzsvlW9bVsVzmh_PAdvDVqroK3znXqbvWpUG-HdfF5nvza3-_W3_P7n17v16j7XJREs55RpDALwAbOCE6q44hpTyoWoDKaFqVmphG6MqApal9TAQQtuKsaErjiu2HX2afLtg_87QhxkZ6OGlMqBH6PkPKlSrQlcTqAOPsYAjeyD7VJ2SbC8FC9PWl6Kl1PxSfBhdh4PHZgnfG46AR9nQEWt2ib1qG184jgRmJR14oqJe_TtACH-acdHCPIIqh2OEqdV8Erk6e-CXF552vxiX04ycMbrkMbRB4hRnvwY0oTjc7n_A-hNqyk</recordid><startdate>200410</startdate><enddate>200410</enddate><creator>Salvatore, Giuliana</creator><creator>Giannini, Riccardo</creator><creator>Faviana, Pinuccia</creator><creator>Caleo, Alessia</creator><creator>Migliaccio, Ilenia</creator><creator>Fagin, James A.</creator><creator>Nikiforov, Yuri E.</creator><creator>Troncone, Giancarlo</creator><creator>Palombini, Lucio</creator><creator>Basolo, Fulvio</creator><creator>Santoro, Massimo</creator><general>Endocrine Society</general><general>Copyright by The Endocrine Society</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200410</creationdate><title>Analysis of BRAF Point Mutation and RET/PTC Rearrangement Refines the Fine-Needle Aspiration Diagnosis of Papillary Thyroid Carcinoma</title><author>Salvatore, Giuliana ; Giannini, Riccardo ; Faviana, Pinuccia ; Caleo, Alessia ; Migliaccio, Ilenia ; Fagin, James A. ; Nikiforov, Yuri E. ; Troncone, Giancarlo ; Palombini, Lucio ; Basolo, Fulvio ; Santoro, Massimo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5183-623c0e8e0b034612a6a6c0226887d024d935a8cfd8742952debc86d7338c76073</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adenoma - genetics</topic><topic>Adenoma - pathology</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Biomarkers, Tumor - genetics</topic><topic>Biopsy, Fine-Needle</topic><topic>Carcinoma, Papillary - genetics</topic><topic>Carcinoma, Papillary - pathology</topic><topic>Endocrinopathies</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Rearrangement</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Oncogene Proteins - genetics</topic><topic>Oncogene Proteins, Fusion</topic><topic>Point Mutation</topic><topic>Protein-Tyrosine Kinases</topic><topic>Proto-Oncogene Proteins B-raf - genetics</topic><topic>Retrospective Studies</topic><topic>Thyroid Neoplasms - genetics</topic><topic>Thyroid Neoplasms - pathology</topic><topic>Thyroid. Thyroid axis (diseases)</topic><topic>Vertebrates: endocrinology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Salvatore, Giuliana</creatorcontrib><creatorcontrib>Giannini, Riccardo</creatorcontrib><creatorcontrib>Faviana, Pinuccia</creatorcontrib><creatorcontrib>Caleo, Alessia</creatorcontrib><creatorcontrib>Migliaccio, Ilenia</creatorcontrib><creatorcontrib>Fagin, James A.</creatorcontrib><creatorcontrib>Nikiforov, Yuri E.</creatorcontrib><creatorcontrib>Troncone, Giancarlo</creatorcontrib><creatorcontrib>Palombini, Lucio</creatorcontrib><creatorcontrib>Basolo, Fulvio</creatorcontrib><creatorcontrib>Santoro, Massimo</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The journal of clinical endocrinology and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Salvatore, Giuliana</au><au>Giannini, Riccardo</au><au>Faviana, Pinuccia</au><au>Caleo, Alessia</au><au>Migliaccio, Ilenia</au><au>Fagin, James A.</au><au>Nikiforov, Yuri E.</au><au>Troncone, Giancarlo</au><au>Palombini, Lucio</au><au>Basolo, Fulvio</au><au>Santoro, Massimo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of BRAF Point Mutation and RET/PTC Rearrangement Refines the Fine-Needle Aspiration Diagnosis of Papillary Thyroid Carcinoma</atitle><jtitle>The journal of clinical endocrinology and metabolism</jtitle><addtitle>J Clin Endocrinol Metab</addtitle><date>2004-10</date><risdate>2004</risdate><volume>89</volume><issue>10</issue><spage>5175</spage><epage>5180</epage><pages>5175-5180</pages><issn>0021-972X</issn><eissn>1945-7197</eissn><coden>JCEMAZ</coden><abstract>Point mutations in BRAF are genetic hallmarks of papillary thyroid carcinoma (PTC). In this retrospective study, we examined thyroid aspirates and corresponding paraffin-embedded surgical samples for the presence of BRAF mutations. Altogether, we examined 96 cases, including 69 PTCs, 19 follicular adenomas, and eight nontoxic nodular goiters for BRAF; 60 of these samples were also examined for RET/PTC rearrangements. The results were correlated with the cytological diagnosis and the final histopathology. The BRAF mutation (V599E) was detected in 38% of the samples that were PTC on histopathology; RET/PTC was found in 18% of the PTC cases. In all the cases, the presence of the genetic alteration was confirmed in the surgically resected tumor. The identification of BRAF mutation and RET/PTC refined the diagnosis of PTC in five of 15 samples that were considered either indeterminate or insufficient at cytology. No mutation was found in aspirates of follicular adenomas and nontoxic nodular goiters. These results indicate that BRAF mutation and RET/PTC rearrangements are molecular markers of PTC that can be applied to FNA in adjunct to traditional cytology.</abstract><cop>Bethesda, MD</cop><pub>Endocrine Society</pub><pmid>15472223</pmid><doi>10.1210/jc.2003-032221</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adenoma - genetics Adenoma - pathology Adult Biological and medical sciences Biomarkers, Tumor - genetics Biopsy, Fine-Needle Carcinoma, Papillary - genetics Carcinoma, Papillary - pathology Endocrinopathies Female Fundamental and applied biological sciences. Psychology Gene Rearrangement Humans Male Medical sciences Non tumoral diseases. Target tissue resistance. Benign neoplasms Oncogene Proteins - genetics Oncogene Proteins, Fusion Point Mutation Protein-Tyrosine Kinases Proto-Oncogene Proteins B-raf - genetics Retrospective Studies Thyroid Neoplasms - genetics Thyroid Neoplasms - pathology Thyroid. Thyroid axis (diseases) Vertebrates: endocrinology |
| title | Analysis of BRAF Point Mutation and RET/PTC Rearrangement Refines the Fine-Needle Aspiration Diagnosis of Papillary Thyroid Carcinoma |
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