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Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents
•Clinical and molecular data of hot thyroid nodules (HTNs) in children are rare.•We present clinical/molecular data for 33 consecutive (29 benign/4 malignant) HTNs.•59% of HTNs harbored somatic TSHR mutations.•The most commonly observed TSHR mutation was M453T (in 8/29 samples).•The newly found TSHR...
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| Published in: | Molecular and cellular endocrinology 2014-08, Vol.393 (1-2), p.39-45 |
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| container_title | Molecular and cellular endocrinology |
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| creator | Eszlinger, Markus Niedziela, Marek Typlt, Eva Jaeschke, Holger Huth, Sandra Schaarschmidt, Jörg Aigner, Thomas Trejster, Ewa Krohn, Knut Bösenberg, Eileen Paschke, Ralf |
| description | •Clinical and molecular data of hot thyroid nodules (HTNs) in children are rare.•We present clinical/molecular data for 33 consecutive (29 benign/4 malignant) HTNs.•59% of HTNs harbored somatic TSHR mutations.•The most commonly observed TSHR mutation was M453T (in 8/29 samples).•The newly found TSHR mutation A538T did not show constitutive activity in vitro.
Hot thyroid nodules (HTNs) in children are rare. Their reported malignancy rate is higher than in adults. However molecular data are rare. We present clinical and molecular data for 33 consecutive (29 benign and 4 malignant) HTNs.
17/29 Benign HTNs (59%) harbored somatic TSHR mutations. The most commonly observed mutation was M453T (in 8/29 samples). T632I and D633Y mutations were each detected twice. All other TSHR mutations were each found in one sample, including the new A538T mutation. One NRAS mutation was detected in a benign HTN with a M453T mutation. A PAX8/PPARG rearrangement was found in one malignant HTN. A T632I mutation was detected in one hot papillary thyroid carcinoma.
The percentage of TSHR mutation positive HTNs in children and adolescents is within the range observed in adults. Contrary to adults, the M453T mutation is the predominant TSHR mutation in HTNs of children and adolescents. The increased malignancy rate of HTNs of children does not appear to be associated with RAS, BRAF, PAX8/PPARG and RET/PTC mutations. |
| doi_str_mv | 10.1016/j.mce.2014.05.023 |
| format | article |
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Hot thyroid nodules (HTNs) in children are rare. Their reported malignancy rate is higher than in adults. However molecular data are rare. We present clinical and molecular data for 33 consecutive (29 benign and 4 malignant) HTNs.
17/29 Benign HTNs (59%) harbored somatic TSHR mutations. The most commonly observed mutation was M453T (in 8/29 samples). T632I and D633Y mutations were each detected twice. All other TSHR mutations were each found in one sample, including the new A538T mutation. One NRAS mutation was detected in a benign HTN with a M453T mutation. A PAX8/PPARG rearrangement was found in one malignant HTN. A T632I mutation was detected in one hot papillary thyroid carcinoma.
The percentage of TSHR mutation positive HTNs in children and adolescents is within the range observed in adults. Contrary to adults, the M453T mutation is the predominant TSHR mutation in HTNs of children and adolescents. The increased malignancy rate of HTNs of children does not appear to be associated with RAS, BRAF, PAX8/PPARG and RET/PTC mutations.</description><identifier>ISSN: 0303-7207</identifier><identifier>EISSN: 1872-8057</identifier><identifier>DOI: 10.1016/j.mce.2014.05.023</identifier><identifier>PMID: 24915144</identifier><language>eng</language><publisher>Ireland: Elsevier Ireland Ltd</publisher><subject>Adolescent ; Animals ; Cercopithecus aethiops ; Child ; Child, Preschool ; COS Cells ; Female ; Humans ; Hyperthyroidism ; Male ; Mutation - genetics ; Thyroid cancer ; Thyroid nodule ; Thyroid Nodule - classification ; Thyroid Nodule - genetics</subject><ispartof>Molecular and cellular endocrinology, 2014-08, Vol.393 (1-2), p.39-45</ispartof><rights>2014 Elsevier Ireland Ltd</rights><rights>Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c353t-b77be3130fe0c69c85f64deb45bbbb393ecd423f2e06d0f73e4f62a4eb3e66f23</citedby><cites>FETCH-LOGICAL-c353t-b77be3130fe0c69c85f64deb45bbbb393ecd423f2e06d0f73e4f62a4eb3e66f23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,786,790,27957,27958</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24915144$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Eszlinger, Markus</creatorcontrib><creatorcontrib>Niedziela, Marek</creatorcontrib><creatorcontrib>Typlt, Eva</creatorcontrib><creatorcontrib>Jaeschke, Holger</creatorcontrib><creatorcontrib>Huth, Sandra</creatorcontrib><creatorcontrib>Schaarschmidt, Jörg</creatorcontrib><creatorcontrib>Aigner, Thomas</creatorcontrib><creatorcontrib>Trejster, Ewa</creatorcontrib><creatorcontrib>Krohn, Knut</creatorcontrib><creatorcontrib>Bösenberg, Eileen</creatorcontrib><creatorcontrib>Paschke, Ralf</creatorcontrib><title>Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents</title><title>Molecular and cellular endocrinology</title><addtitle>Mol Cell Endocrinol</addtitle><description>•Clinical and molecular data of hot thyroid nodules (HTNs) in children are rare.•We present clinical/molecular data for 33 consecutive (29 benign/4 malignant) HTNs.•59% of HTNs harbored somatic TSHR mutations.•The most commonly observed TSHR mutation was M453T (in 8/29 samples).•The newly found TSHR mutation A538T did not show constitutive activity in vitro.
Hot thyroid nodules (HTNs) in children are rare. Their reported malignancy rate is higher than in adults. However molecular data are rare. We present clinical and molecular data for 33 consecutive (29 benign and 4 malignant) HTNs.
17/29 Benign HTNs (59%) harbored somatic TSHR mutations. The most commonly observed mutation was M453T (in 8/29 samples). T632I and D633Y mutations were each detected twice. All other TSHR mutations were each found in one sample, including the new A538T mutation. One NRAS mutation was detected in a benign HTN with a M453T mutation. A PAX8/PPARG rearrangement was found in one malignant HTN. A T632I mutation was detected in one hot papillary thyroid carcinoma.
The percentage of TSHR mutation positive HTNs in children and adolescents is within the range observed in adults. Contrary to adults, the M453T mutation is the predominant TSHR mutation in HTNs of children and adolescents. The increased malignancy rate of HTNs of children does not appear to be associated with RAS, BRAF, PAX8/PPARG and RET/PTC mutations.</description><subject>Adolescent</subject><subject>Animals</subject><subject>Cercopithecus aethiops</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>COS Cells</subject><subject>Female</subject><subject>Humans</subject><subject>Hyperthyroidism</subject><subject>Male</subject><subject>Mutation - genetics</subject><subject>Thyroid cancer</subject><subject>Thyroid nodule</subject><subject>Thyroid Nodule - classification</subject><subject>Thyroid Nodule - genetics</subject><issn>0303-7207</issn><issn>1872-8057</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNp9kE1P3DAQhq2qVdlCfwCXysdeko6_kqw4VQjaSkgcCjcky7EnrFeJTW0HiX-P6UKPncuMrGdeeR5CThm0DFj3bd8uFlsOTLagWuDiHdmwoefNAKp_TzYgQDQ9h_6IfMp5DwC94sNHcsTllikm5Ybc_Y6LKd7SZS21x5CpD1QIOmLw94Ga4Ohi5jqaUOguFlp2Tyl6R0N064x_cbvzs0t4oI2L9dliKPmEfJjMnPHzaz8mt5cXN-c_m6vrH7_Ov181VihRmrHvRxRMwIRgu60d1NRJh6NUYy2xFWid5GLiCJ2DqRcop44biaPArpu4OCZfD7kPKf5ZMRe9-PqDeTYB45o1U_VskHIYKsoOqE0x54STfkh-MelJM9AvUvVeV6n6RaoGpavUuvPlNX4dF3T_Nt4sVuDsAGA98tFj0tl6DBadT2iLdtH_J_4ZRoGIXg</recordid><startdate>20140805</startdate><enddate>20140805</enddate><creator>Eszlinger, Markus</creator><creator>Niedziela, Marek</creator><creator>Typlt, Eva</creator><creator>Jaeschke, Holger</creator><creator>Huth, Sandra</creator><creator>Schaarschmidt, Jörg</creator><creator>Aigner, Thomas</creator><creator>Trejster, Ewa</creator><creator>Krohn, Knut</creator><creator>Bösenberg, Eileen</creator><creator>Paschke, Ralf</creator><general>Elsevier Ireland Ltd</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></search><sort><creationdate>20140805</creationdate><title>Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents</title><author>Eszlinger, Markus ; Niedziela, Marek ; Typlt, Eva ; Jaeschke, Holger ; Huth, Sandra ; Schaarschmidt, Jörg ; Aigner, Thomas ; Trejster, Ewa ; Krohn, Knut ; Bösenberg, Eileen ; Paschke, Ralf</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c353t-b77be3130fe0c69c85f64deb45bbbb393ecd423f2e06d0f73e4f62a4eb3e66f23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Animals</topic><topic>Cercopithecus aethiops</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>COS Cells</topic><topic>Female</topic><topic>Humans</topic><topic>Hyperthyroidism</topic><topic>Male</topic><topic>Mutation - genetics</topic><topic>Thyroid cancer</topic><topic>Thyroid nodule</topic><topic>Thyroid Nodule - classification</topic><topic>Thyroid Nodule - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Eszlinger, Markus</creatorcontrib><creatorcontrib>Niedziela, Marek</creatorcontrib><creatorcontrib>Typlt, Eva</creatorcontrib><creatorcontrib>Jaeschke, Holger</creatorcontrib><creatorcontrib>Huth, Sandra</creatorcontrib><creatorcontrib>Schaarschmidt, Jörg</creatorcontrib><creatorcontrib>Aigner, Thomas</creatorcontrib><creatorcontrib>Trejster, Ewa</creatorcontrib><creatorcontrib>Krohn, Knut</creatorcontrib><creatorcontrib>Bösenberg, Eileen</creatorcontrib><creatorcontrib>Paschke, Ralf</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>Molecular and cellular endocrinology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Eszlinger, Markus</au><au>Niedziela, Marek</au><au>Typlt, Eva</au><au>Jaeschke, Holger</au><au>Huth, Sandra</au><au>Schaarschmidt, Jörg</au><au>Aigner, Thomas</au><au>Trejster, Ewa</au><au>Krohn, Knut</au><au>Bösenberg, Eileen</au><au>Paschke, Ralf</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents</atitle><jtitle>Molecular and cellular endocrinology</jtitle><addtitle>Mol Cell Endocrinol</addtitle><date>2014-08-05</date><risdate>2014</risdate><volume>393</volume><issue>1-2</issue><spage>39</spage><epage>45</epage><pages>39-45</pages><issn>0303-7207</issn><eissn>1872-8057</eissn><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>•Clinical and molecular data of hot thyroid nodules (HTNs) in children are rare.•We present clinical/molecular data for 33 consecutive (29 benign/4 malignant) HTNs.•59% of HTNs harbored somatic TSHR mutations.•The most commonly observed TSHR mutation was M453T (in 8/29 samples).•The newly found TSHR mutation A538T did not show constitutive activity in vitro.
Hot thyroid nodules (HTNs) in children are rare. Their reported malignancy rate is higher than in adults. However molecular data are rare. We present clinical and molecular data for 33 consecutive (29 benign and 4 malignant) HTNs.
17/29 Benign HTNs (59%) harbored somatic TSHR mutations. The most commonly observed mutation was M453T (in 8/29 samples). T632I and D633Y mutations were each detected twice. All other TSHR mutations were each found in one sample, including the new A538T mutation. One NRAS mutation was detected in a benign HTN with a M453T mutation. A PAX8/PPARG rearrangement was found in one malignant HTN. A T632I mutation was detected in one hot papillary thyroid carcinoma.
The percentage of TSHR mutation positive HTNs in children and adolescents is within the range observed in adults. Contrary to adults, the M453T mutation is the predominant TSHR mutation in HTNs of children and adolescents. The increased malignancy rate of HTNs of children does not appear to be associated with RAS, BRAF, PAX8/PPARG and RET/PTC mutations.</abstract><cop>Ireland</cop><pub>Elsevier Ireland Ltd</pub><pmid>24915144</pmid><doi>10.1016/j.mce.2014.05.023</doi><tpages>7</tpages></addata></record> |
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| ispartof | Molecular and cellular endocrinology, 2014-08, Vol.393 (1-2), p.39-45 |
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| language | eng |
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| source | ScienceDirect Freedom Collection 2022-2024 |
| subjects | Adolescent Animals Cercopithecus aethiops Child Child, Preschool COS Cells Female Humans Hyperthyroidism Male Mutation - genetics Thyroid cancer Thyroid nodule Thyroid Nodule - classification Thyroid Nodule - genetics |
| title | Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents |
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