Succinate Dehydrogenase D Variants Do Not Constitute a Risk Factor for Developing C Cell Hyperplasia or Sporadic Medullary Thyroid Carcinoma
Medullary thyroid carcinoma (MTC) is a tumor that arises from parafollicular cells of the thyroid gland. MTC can occur sporadically (75%) or as part of inherited cancer syndromes (25%). In most cases, hereditary MTC evolves from preneoplastic C cell hyperplasia (CCH), so early detection of this path...
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| Veröffentlicht in: | The journal of clinical endocrinology and metabolism 2005-04, Vol.90 (4), p.2127-2130 |
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| creator | Cascon, Alberto Cebrian, Arancha Pollan, Marina Ruiz-Llorente, Sergio Montero-Conde, Cristina Leton, Rocio Gutierrez, Ruth Lesueur, Fabienne Milne, Roger L. Gonzalez-Albarran, Olga Lucas-Morante, Tomas Benitez, Javier Ponder, Bruce A. J. Robledo, Mercedes |
| description | Medullary thyroid carcinoma (MTC) is a tumor that arises from parafollicular cells of the thyroid gland. MTC can occur sporadically (75%) or as part of inherited cancer syndromes (25%). In most cases, hereditary MTC evolves from preneoplastic C cell hyperplasia (CCH), so early detection of this pathology would evidently be critical. A recent study reports that alterations in succinate dehydrogenase (SDH) D are responsible for familial non-RET CCH. First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease. Then, we investigated whether the H50R variant could be a risk factor in the sporadic development of MTC in both Spanish and English patients. We found no evidence that the presence of the H50R is strongly associated with the risk of sporadic MTC, although we did observe an association with age at diagnosis of MTC in Spanish H50R carriers that we did not find in English patients. Finally, we looked for evidence of CCH or any other thyroid disease in a panel of germ-line SDH (B or D) mutation carriers and found none. We conclude that SDHD variants do not constitute a risk factor for developing CCH or sporadic MTC. |
| doi_str_mv | 10.1210/jc.2004-2059 |
| format | Article |
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J. ; Robledo, Mercedes</creator><creatorcontrib>Cascon, Alberto ; Cebrian, Arancha ; Pollan, Marina ; Ruiz-Llorente, Sergio ; Montero-Conde, Cristina ; Leton, Rocio ; Gutierrez, Ruth ; Lesueur, Fabienne ; Milne, Roger L. ; Gonzalez-Albarran, Olga ; Lucas-Morante, Tomas ; Benitez, Javier ; Ponder, Bruce A. J. ; Robledo, Mercedes</creatorcontrib><description>Medullary thyroid carcinoma (MTC) is a tumor that arises from parafollicular cells of the thyroid gland. MTC can occur sporadically (75%) or as part of inherited cancer syndromes (25%). In most cases, hereditary MTC evolves from preneoplastic C cell hyperplasia (CCH), so early detection of this pathology would evidently be critical. A recent study reports that alterations in succinate dehydrogenase (SDH) D are responsible for familial non-RET CCH. First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease. Then, we investigated whether the H50R variant could be a risk factor in the sporadic development of MTC in both Spanish and English patients. We found no evidence that the presence of the H50R is strongly associated with the risk of sporadic MTC, although we did observe an association with age at diagnosis of MTC in Spanish H50R carriers that we did not find in English patients. Finally, we looked for evidence of CCH or any other thyroid disease in a panel of germ-line SDH (B or D) mutation carriers and found none. We conclude that SDHD variants do not constitute a risk factor for developing CCH or sporadic MTC.</description><identifier>ISSN: 0021-972X</identifier><identifier>EISSN: 1945-7197</identifier><identifier>DOI: 10.1210/jc.2004-2059</identifier><identifier>PMID: 15623805</identifier><identifier>CODEN: JCEMAZ</identifier><language>eng</language><publisher>Bethesda, MD: Endocrine Society</publisher><subject>Adolescent ; Adult ; Aged ; Biological and medical sciences ; Carcinoma, Medullary - etiology ; Carcinoma, Medullary - genetics ; Child ; Endocrinopathies ; Fundamental and applied biological sciences. Psychology ; Humans ; Hyperplasia ; Medical sciences ; Middle Aged ; Mutation ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Precancerous Conditions - etiology ; Precancerous Conditions - genetics ; Risk Factors ; Succinate Dehydrogenase - genetics ; Thyroid Gland - pathology ; Thyroid Neoplasms - etiology ; Thyroid Neoplasms - genetics ; Thyroid. 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J.</creatorcontrib><creatorcontrib>Robledo, Mercedes</creatorcontrib><title>Succinate Dehydrogenase D Variants Do Not Constitute a Risk Factor for Developing C Cell Hyperplasia or Sporadic Medullary Thyroid Carcinoma</title><title>The journal of clinical endocrinology and metabolism</title><addtitle>J Clin Endocrinol Metab</addtitle><description>Medullary thyroid carcinoma (MTC) is a tumor that arises from parafollicular cells of the thyroid gland. MTC can occur sporadically (75%) or as part of inherited cancer syndromes (25%). In most cases, hereditary MTC evolves from preneoplastic C cell hyperplasia (CCH), so early detection of this pathology would evidently be critical. A recent study reports that alterations in succinate dehydrogenase (SDH) D are responsible for familial non-RET CCH. First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease. Then, we investigated whether the H50R variant could be a risk factor in the sporadic development of MTC in both Spanish and English patients. We found no evidence that the presence of the H50R is strongly associated with the risk of sporadic MTC, although we did observe an association with age at diagnosis of MTC in Spanish H50R carriers that we did not find in English patients. Finally, we looked for evidence of CCH or any other thyroid disease in a panel of germ-line SDH (B or D) mutation carriers and found none. We conclude that SDHD variants do not constitute a risk factor for developing CCH or sporadic MTC.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Carcinoma, Medullary - etiology</subject><subject>Carcinoma, Medullary - genetics</subject><subject>Child</subject><subject>Endocrinopathies</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Humans</subject><subject>Hyperplasia</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Precancerous Conditions - etiology</subject><subject>Precancerous Conditions - genetics</subject><subject>Risk Factors</subject><subject>Succinate Dehydrogenase - genetics</subject><subject>Thyroid Gland - pathology</subject><subject>Thyroid Neoplasms - etiology</subject><subject>Thyroid Neoplasms - genetics</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>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpt0EFrFDEUwPEgil1bb54lFz05NclMkslRZlsrVAXbirfhTeZNm3U2GZOZwn4HP7RZdqEXDyEEfrw8_oS84eycC84-buy5YKwqBJPmGVlxU8lCc6OfkxVjghdGi18n5FVKG8Z4VcnyJTnhUomyZnJF_t4s1joPM9I1Puz6GO7RQ8ov-hOiAz8nug70W5hpE3ya3bxkCvSHS7_pJdg5RDrks8ZHHMPk_D1taIPjSK92E8ZphOSAZnAzhQi9s_Qr9ss4QtzR24ddDK6nDcS8QtjCGXkxwJjw9fE-JXeXF7fNVXH9_fOX5tN1YYUp56ISdan5IGvTyQ4Z60oEHCoolRE2N-lR9spKUQ7C1lZLbpSy2Bmth8qYypSn5P1h7hTDnwXT3G5dsnlp8BiW1CqtOdOiyvDDAdoYUoo4tFN027x7y1m7r99ubLuv3-7rZ_72OHfpttg_4WPuDN4dASQL4xDBW5eenFK1FkpnVx4c-j7Y6DxOEVNqN2GJPpf5__f_ACF1ntg</recordid><startdate>20050401</startdate><enddate>20050401</enddate><creator>Cascon, Alberto</creator><creator>Cebrian, Arancha</creator><creator>Pollan, Marina</creator><creator>Ruiz-Llorente, Sergio</creator><creator>Montero-Conde, Cristina</creator><creator>Leton, Rocio</creator><creator>Gutierrez, Ruth</creator><creator>Lesueur, Fabienne</creator><creator>Milne, Roger L.</creator><creator>Gonzalez-Albarran, Olga</creator><creator>Lucas-Morante, Tomas</creator><creator>Benitez, Javier</creator><creator>Ponder, Bruce A. 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J. ; Robledo, Mercedes</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c293t-428371f589b5be00b3eaef4a3692c121de5d6c523f2c8c751966ceb977f499493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Carcinoma, Medullary - etiology</topic><topic>Carcinoma, Medullary - genetics</topic><topic>Child</topic><topic>Endocrinopathies</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Humans</topic><topic>Hyperplasia</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Precancerous Conditions - etiology</topic><topic>Precancerous Conditions - genetics</topic><topic>Risk Factors</topic><topic>Succinate Dehydrogenase - genetics</topic><topic>Thyroid Gland - pathology</topic><topic>Thyroid Neoplasms - etiology</topic><topic>Thyroid Neoplasms - genetics</topic><topic>Thyroid. Thyroid axis (diseases)</topic><topic>Vertebrates: endocrinology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cascon, Alberto</creatorcontrib><creatorcontrib>Cebrian, Arancha</creatorcontrib><creatorcontrib>Pollan, Marina</creatorcontrib><creatorcontrib>Ruiz-Llorente, Sergio</creatorcontrib><creatorcontrib>Montero-Conde, Cristina</creatorcontrib><creatorcontrib>Leton, Rocio</creatorcontrib><creatorcontrib>Gutierrez, Ruth</creatorcontrib><creatorcontrib>Lesueur, Fabienne</creatorcontrib><creatorcontrib>Milne, Roger L.</creatorcontrib><creatorcontrib>Gonzalez-Albarran, Olga</creatorcontrib><creatorcontrib>Lucas-Morante, Tomas</creatorcontrib><creatorcontrib>Benitez, Javier</creatorcontrib><creatorcontrib>Ponder, Bruce A. J.</creatorcontrib><creatorcontrib>Robledo, Mercedes</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>Cascon, Alberto</au><au>Cebrian, Arancha</au><au>Pollan, Marina</au><au>Ruiz-Llorente, Sergio</au><au>Montero-Conde, Cristina</au><au>Leton, Rocio</au><au>Gutierrez, Ruth</au><au>Lesueur, Fabienne</au><au>Milne, Roger L.</au><au>Gonzalez-Albarran, Olga</au><au>Lucas-Morante, Tomas</au><au>Benitez, Javier</au><au>Ponder, Bruce A. J.</au><au>Robledo, Mercedes</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Succinate Dehydrogenase D Variants Do Not Constitute a Risk Factor for Developing C Cell Hyperplasia or Sporadic Medullary Thyroid Carcinoma</atitle><jtitle>The journal of clinical endocrinology and metabolism</jtitle><addtitle>J Clin Endocrinol Metab</addtitle><date>2005-04-01</date><risdate>2005</risdate><volume>90</volume><issue>4</issue><spage>2127</spage><epage>2130</epage><pages>2127-2130</pages><issn>0021-972X</issn><eissn>1945-7197</eissn><coden>JCEMAZ</coden><abstract>Medullary thyroid carcinoma (MTC) is a tumor that arises from parafollicular cells of the thyroid gland. MTC can occur sporadically (75%) or as part of inherited cancer syndromes (25%). In most cases, hereditary MTC evolves from preneoplastic C cell hyperplasia (CCH), so early detection of this pathology would evidently be critical. A recent study reports that alterations in succinate dehydrogenase (SDH) D are responsible for familial non-RET CCH. First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease. Then, we investigated whether the H50R variant could be a risk factor in the sporadic development of MTC in both Spanish and English patients. We found no evidence that the presence of the H50R is strongly associated with the risk of sporadic MTC, although we did observe an association with age at diagnosis of MTC in Spanish H50R carriers that we did not find in English patients. Finally, we looked for evidence of CCH or any other thyroid disease in a panel of germ-line SDH (B or D) mutation carriers and found none. We conclude that SDHD variants do not constitute a risk factor for developing CCH or sporadic MTC.</abstract><cop>Bethesda, MD</cop><pub>Endocrine Society</pub><pmid>15623805</pmid><doi>10.1210/jc.2004-2059</doi><tpages>4</tpages></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford University Press Journals All Titles (1996-Current) |
| subjects | Adolescent Adult Aged Biological and medical sciences Carcinoma, Medullary - etiology Carcinoma, Medullary - genetics Child Endocrinopathies Fundamental and applied biological sciences. Psychology Humans Hyperplasia Medical sciences Middle Aged Mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Precancerous Conditions - etiology Precancerous Conditions - genetics Risk Factors Succinate Dehydrogenase - genetics Thyroid Gland - pathology Thyroid Neoplasms - etiology Thyroid Neoplasms - genetics Thyroid. Thyroid axis (diseases) Vertebrates: endocrinology |
| title | Succinate Dehydrogenase D Variants Do Not Constitute a Risk Factor for Developing C Cell Hyperplasia or Sporadic Medullary Thyroid Carcinoma |
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