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Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing
Purpose Thyroid carcinoma (TC) is a rare neoplasia of the endocrine system and account for about 2–3% of all human tumors. According to their cell origin and histological features, different histotypes of thyroid carcinoma are described. Genetic alterations involved in the pathogenesis of thyroid ca...
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| Published in: | Endocrine 2023-08, Vol.81 (2), p.206-215 |
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| Main Authors: | , |
| Format: | Article |
| Language: | English |
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| container_end_page | 215 |
| container_issue | 2 |
| container_start_page | 206 |
| container_title | Endocrine |
| container_volume | 81 |
| creator | Elisei, Rossella Romei, Cristina |
| description | Purpose
Thyroid carcinoma (TC) is a rare neoplasia of the endocrine system and account for about 2–3% of all human tumors. According to their cell origin and histological features, different histotypes of thyroid carcinoma are described. Genetic alterations involved in the pathogenesis of thyroid cancer have been described and it has been shown that alterations of the
RET
gene are common events in all TC hystotypes. Aim of this review is to give an overview of the relevance of
RET
alterations in TC and to provide indications, timing and methodologies, for
RET
genetic analysis.
Methods
A revision of the literature has been performed and indications for the experimental approach for the
RET
analysis have been reported.
Conclusions
The analysis of
RET
mutations in TC has a very important clinical relevance for the early diagnosis of the hereditary forms of MTC, for the follow-up of TC patients and for the identification of those cases that can benefit from a specific treatment able to inhibit the effect of mutated
RET
. |
| doi_str_mv | 10.1007/s12020-023-03368-w |
| format | article |
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Thyroid carcinoma (TC) is a rare neoplasia of the endocrine system and account for about 2–3% of all human tumors. According to their cell origin and histological features, different histotypes of thyroid carcinoma are described. Genetic alterations involved in the pathogenesis of thyroid cancer have been described and it has been shown that alterations of the
RET
gene are common events in all TC hystotypes. Aim of this review is to give an overview of the relevance of
RET
alterations in TC and to provide indications, timing and methodologies, for
RET
genetic analysis.
Methods
A revision of the literature has been performed and indications for the experimental approach for the
RET
analysis have been reported.
Conclusions
The analysis of
RET
mutations in TC has a very important clinical relevance for the early diagnosis of the hereditary forms of MTC, for the follow-up of TC patients and for the identification of those cases that can benefit from a specific treatment able to inhibit the effect of mutated
RET
.</description><identifier>ISSN: 1559-0100</identifier><identifier>ISSN: 1355-008X</identifier><identifier>EISSN: 1559-0100</identifier><identifier>DOI: 10.1007/s12020-023-03368-w</identifier><identifier>PMID: 37195581</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Carcinoma, Medullary ; Clinical Relevance ; Diabetes ; Endocrine system ; Endocrinology ; Genetic analysis ; Humanities and Social Sciences ; Humans ; Internal Medicine ; Medicine ; Medicine & Public Health ; multidisciplinary ; Multiple Endocrine Neoplasia Type 2a ; Mutation ; Proto-Oncogene Mas ; Proto-Oncogene Proteins c-ret - genetics ; Ret protein ; Review ; Science ; Thyroid cancer ; Thyroid carcinoma ; Thyroid Neoplasms - diagnosis ; Thyroid Neoplasms - genetics</subject><ispartof>Endocrine, 2023-08, Vol.81 (2), p.206-215</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c375t-8df3786c99c2d20e8473c65e49acc99bcab3742dd2b50af7a12db6d1fa7f78483</citedby><cites>FETCH-LOGICAL-c375t-8df3786c99c2d20e8473c65e49acc99bcab3742dd2b50af7a12db6d1fa7f78483</cites><orcidid>0000-0002-5957-8902</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37195581$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Elisei, Rossella</creatorcontrib><creatorcontrib>Romei, Cristina</creatorcontrib><title>Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing</title><title>Endocrine</title><addtitle>Endocrine</addtitle><addtitle>Endocrine</addtitle><description>Purpose
Thyroid carcinoma (TC) is a rare neoplasia of the endocrine system and account for about 2–3% of all human tumors. According to their cell origin and histological features, different histotypes of thyroid carcinoma are described. Genetic alterations involved in the pathogenesis of thyroid cancer have been described and it has been shown that alterations of the
RET
gene are common events in all TC hystotypes. Aim of this review is to give an overview of the relevance of
RET
alterations in TC and to provide indications, timing and methodologies, for
RET
genetic analysis.
Methods
A revision of the literature has been performed and indications for the experimental approach for the
RET
analysis have been reported.
Conclusions
The analysis of
RET
mutations in TC has a very important clinical relevance for the early diagnosis of the hereditary forms of MTC, for the follow-up of TC patients and for the identification of those cases that can benefit from a specific treatment able to inhibit the effect of mutated
RET
.</description><subject>Carcinoma, Medullary</subject><subject>Clinical Relevance</subject><subject>Diabetes</subject><subject>Endocrine system</subject><subject>Endocrinology</subject><subject>Genetic analysis</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>multidisciplinary</subject><subject>Multiple Endocrine Neoplasia Type 2a</subject><subject>Mutation</subject><subject>Proto-Oncogene Mas</subject><subject>Proto-Oncogene Proteins c-ret - genetics</subject><subject>Ret protein</subject><subject>Review</subject><subject>Science</subject><subject>Thyroid cancer</subject><subject>Thyroid carcinoma</subject><subject>Thyroid Neoplasms - diagnosis</subject><subject>Thyroid Neoplasms - genetics</subject><issn>1559-0100</issn><issn>1355-008X</issn><issn>1559-0100</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><recordid>eNp9kMtKAzEUhoMoXqov4EICblw4msvMJONOxBsUBKkLVyGTZNroTFKTqaVvb2rrBRdCIOGc7_wnfAAcYnSGEWLnERNEUIYIzRClJc_mG2AXF0WVodTf_PXeAXsxviBECCnZNtihDFdFwfEueB56_2rdGDY-wMfrEZRtb4LsrXcRWgf7ySJ4q6GSTplwAVVrnVWyhcG05n1ZPIWd6Sde-9aPF1A6DXvbpcR9sNXINpqD9T0ATzfXo6u7bPhwe391OcwUZUWfcd1QxktVVYpoggzPGVVlYfJKqlSslawpy4nWpC6QbJjERNelxo1kDeM5pwNwssqdBv82M7EXnY3KtK10xs-iIBzn6dBqiR7_QV_8LLj0u0SRimPMqzxRZEWp4GMMphHTYDsZFgIjsRQvVuJFEi8-xYt5GjpaR8_qzujvkS_TCaArIKaWG5vws_uf2A-DhY6d</recordid><startdate>20230801</startdate><enddate>20230801</enddate><creator>Elisei, Rossella</creator><creator>Romei, Cristina</creator><general>Springer US</general><general>Springer Nature B.V</general><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><orcidid>https://orcid.org/0000-0002-5957-8902</orcidid></search><sort><creationdate>20230801</creationdate><title>Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing</title><author>Elisei, Rossella ; Romei, Cristina</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c375t-8df3786c99c2d20e8473c65e49acc99bcab3742dd2b50af7a12db6d1fa7f78483</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Carcinoma, Medullary</topic><topic>Clinical Relevance</topic><topic>Diabetes</topic><topic>Endocrine system</topic><topic>Endocrinology</topic><topic>Genetic analysis</topic><topic>Humanities and Social Sciences</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>multidisciplinary</topic><topic>Multiple Endocrine Neoplasia Type 2a</topic><topic>Mutation</topic><topic>Proto-Oncogene Mas</topic><topic>Proto-Oncogene Proteins c-ret - genetics</topic><topic>Ret protein</topic><topic>Review</topic><topic>Science</topic><topic>Thyroid cancer</topic><topic>Thyroid carcinoma</topic><topic>Thyroid Neoplasms - diagnosis</topic><topic>Thyroid Neoplasms - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Elisei, Rossella</creatorcontrib><creatorcontrib>Romei, Cristina</creatorcontrib><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>Endocrine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Elisei, Rossella</au><au>Romei, Cristina</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing</atitle><jtitle>Endocrine</jtitle><stitle>Endocrine</stitle><addtitle>Endocrine</addtitle><date>2023-08-01</date><risdate>2023</risdate><volume>81</volume><issue>2</issue><spage>206</spage><epage>215</epage><pages>206-215</pages><issn>1559-0100</issn><issn>1355-008X</issn><eissn>1559-0100</eissn><abstract>Purpose
Thyroid carcinoma (TC) is a rare neoplasia of the endocrine system and account for about 2–3% of all human tumors. According to their cell origin and histological features, different histotypes of thyroid carcinoma are described. Genetic alterations involved in the pathogenesis of thyroid cancer have been described and it has been shown that alterations of the
RET
gene are common events in all TC hystotypes. Aim of this review is to give an overview of the relevance of
RET
alterations in TC and to provide indications, timing and methodologies, for
RET
genetic analysis.
Methods
A revision of the literature has been performed and indications for the experimental approach for the
RET
analysis have been reported.
Conclusions
The analysis of
RET
mutations in TC has a very important clinical relevance for the early diagnosis of the hereditary forms of MTC, for the follow-up of TC patients and for the identification of those cases that can benefit from a specific treatment able to inhibit the effect of mutated
RET
.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>37195581</pmid><doi>10.1007/s12020-023-03368-w</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0002-5957-8902</orcidid></addata></record> |
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| subjects | Carcinoma, Medullary Clinical Relevance Diabetes Endocrine system Endocrinology Genetic analysis Humanities and Social Sciences Humans Internal Medicine Medicine Medicine & Public Health multidisciplinary Multiple Endocrine Neoplasia Type 2a Mutation Proto-Oncogene Mas Proto-Oncogene Proteins c-ret - genetics Ret protein Review Science Thyroid cancer Thyroid carcinoma Thyroid Neoplasms - diagnosis Thyroid Neoplasms - genetics |
| title | Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing |
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