Unusual case of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma
Background Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together. Methods The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43‐year‐old woman who had been diagnosed with a microprolactinoma one decade before and now pre...
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| Veröffentlicht in: | Head & neck 2014-01, Vol.36 (1), p.E12-E16 |
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| creator | Efstathiadou, Zoe A. Sapranidis, Michail Anagnostis, Panagiotis Kita, Marina D. Rosenthal, Eben L. |
| description | Background
Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together.
Methods
The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43‐year‐old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma.
Results
Germline mutation analysis of phosphatase and tensin homolog (PTEN), succinate dehydrogenase subunit B (SDHB), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit D (SDHD) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the PTEN gene and 1 polymorphic site in exon 1 of the SDHB gene, but absence of known pathogenic mutations.
Conclusion
The coexistence of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma is described for the first time, and could represent a novel genetic syndrome with an as yet unidentified common genetic basis. © 2013 Wiley Periodicals, Inc. Head Neck 36: E12–E16, 2014 |
| doi_str_mv | 10.1002/hed.23420 |
| format | Article |
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Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together.
Methods
The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43‐year‐old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma.
Results
Germline mutation analysis of phosphatase and tensin homolog (PTEN), succinate dehydrogenase subunit B (SDHB), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit D (SDHD) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the PTEN gene and 1 polymorphic site in exon 1 of the SDHB gene, but absence of known pathogenic mutations.
Conclusion
The coexistence of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma is described for the first time, and could represent a novel genetic syndrome with an as yet unidentified common genetic basis. © 2013 Wiley Periodicals, Inc. Head Neck 36: E12–E16, 2014</description><identifier>ISSN: 1043-3074</identifier><identifier>EISSN: 1097-0347</identifier><identifier>DOI: 10.1002/hed.23420</identifier><identifier>PMID: 23804288</identifier><identifier>CODEN: HEANEE</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Biopsy, Needle ; Cowden‐like syndrome ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Germ-Line Mutation ; Hamartoma Syndrome, Multiple - diagnosis ; Hamartoma Syndrome, Multiple - genetics ; Hamartoma Syndrome, Multiple - surgery ; Head and Neck Neoplasms - diagnosis ; Head and Neck Neoplasms - genetics ; Head and Neck Neoplasms - surgery ; Humans ; Immunohistochemistry ; Magnetic Resonance Imaging - methods ; Middle Aged ; Mitochondrial Diseases - diagnosis ; Mitochondrial Diseases - genetics ; Mitochondrial Diseases - surgery ; neck paraganglioma ; Neoplasms, Multiple Primary - diagnosis ; Neoplasms, Multiple Primary - genetics ; Neoplasms, Multiple Primary - surgery ; papillary thyroid cancer ; Paraganglioma - diagnosis ; Paraganglioma - genetics ; Paraganglioma - surgery ; pituitary adenoma ; Pituitary Neoplasms - diagnosis ; Pituitary Neoplasms - genetics ; Pituitary Neoplasms - surgery ; prolactinoma ; Rare Diseases ; Tomography, X-Ray Computed - methods ; Ultrasonography, Doppler</subject><ispartof>Head & neck, 2014-01, Vol.36 (1), p.E12-E16</ispartof><rights>Copyright © 2013 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3130-f61911fa40f30571325423bcf302260b6e421f1c6efee3ca06035916719e7bda3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhed.23420$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhed.23420$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23804288$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Efstathiadou, Zoe A.</creatorcontrib><creatorcontrib>Sapranidis, Michail</creatorcontrib><creatorcontrib>Anagnostis, Panagiotis</creatorcontrib><creatorcontrib>Kita, Marina D.</creatorcontrib><creatorcontrib>Rosenthal, Eben L.</creatorcontrib><title>Unusual case of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma</title><title>Head & neck</title><addtitle>Head Neck</addtitle><description>Background
Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together.
Methods
The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43‐year‐old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma.
Results
Germline mutation analysis of phosphatase and tensin homolog (PTEN), succinate dehydrogenase subunit B (SDHB), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit D (SDHD) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the PTEN gene and 1 polymorphic site in exon 1 of the SDHB gene, but absence of known pathogenic mutations.
Conclusion
The coexistence of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma is described for the first time, and could represent a novel genetic syndrome with an as yet unidentified common genetic basis. © 2013 Wiley Periodicals, Inc. Head Neck 36: E12–E16, 2014</description><subject>Biopsy, Needle</subject><subject>Cowden‐like syndrome</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing</subject><subject>Germ-Line Mutation</subject><subject>Hamartoma Syndrome, Multiple - diagnosis</subject><subject>Hamartoma Syndrome, Multiple - genetics</subject><subject>Hamartoma Syndrome, Multiple - surgery</subject><subject>Head and Neck Neoplasms - diagnosis</subject><subject>Head and Neck Neoplasms - genetics</subject><subject>Head and Neck Neoplasms - surgery</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Magnetic Resonance Imaging - methods</subject><subject>Middle Aged</subject><subject>Mitochondrial Diseases - diagnosis</subject><subject>Mitochondrial Diseases - genetics</subject><subject>Mitochondrial Diseases - surgery</subject><subject>neck paraganglioma</subject><subject>Neoplasms, Multiple Primary - diagnosis</subject><subject>Neoplasms, Multiple Primary - genetics</subject><subject>Neoplasms, Multiple Primary - surgery</subject><subject>papillary thyroid cancer</subject><subject>Paraganglioma - diagnosis</subject><subject>Paraganglioma - genetics</subject><subject>Paraganglioma - surgery</subject><subject>pituitary adenoma</subject><subject>Pituitary Neoplasms - diagnosis</subject><subject>Pituitary Neoplasms - genetics</subject><subject>Pituitary Neoplasms - surgery</subject><subject>prolactinoma</subject><subject>Rare Diseases</subject><subject>Tomography, X-Ray Computed - methods</subject><subject>Ultrasonography, Doppler</subject><issn>1043-3074</issn><issn>1097-0347</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10N9KwzAUBvAgipvTC19AAt4orNvJn6XdpczphIEI7rqk7ens1ja1WRm78xF8Rp_EzM4bwaskh18-ko-QSwYDBsCHb5gMuJAcjkiXwdj3QEj_eL-XwhPgyw45s3YFAEJJfko6XAQgeRB0ycuibGyjcxpri9SkdGK2CZZfH595tkZqd2VSmwL7tMR4TStd66Uul3lmCt2nukxolW2abKPrHdXunhufk5NU5xYvDmuPLB6mr5OZN39-fJrczb1YMAFeqtiYsVRLSAWMfCb4SHIRxe7EuYJIoeQsZbHCFFHEGhSI0Zgpn43RjxIteuSmza1q896g3YRFZmPMc12iaWzIpPJBCakCR6__0JVp6tK9bq8U4zIIhFO3rYprY22NaVjVWeF-FjII9z2Hrufwp2dnrw6JTVS46a_8LdaBYQu2WY67_5PC2fS-jfwGOfCFoA</recordid><startdate>201401</startdate><enddate>201401</enddate><creator>Efstathiadou, Zoe A.</creator><creator>Sapranidis, Michail</creator><creator>Anagnostis, Panagiotis</creator><creator>Kita, Marina D.</creator><creator>Rosenthal, Eben L.</creator><general>Wiley Subscription Services, Inc</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>7QP</scope><scope>7TK</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>201401</creationdate><title>Unusual case of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma</title><author>Efstathiadou, Zoe A. ; Sapranidis, Michail ; Anagnostis, Panagiotis ; Kita, Marina D. ; Rosenthal, Eben L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3130-f61911fa40f30571325423bcf302260b6e421f1c6efee3ca06035916719e7bda3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Biopsy, Needle</topic><topic>Cowden‐like syndrome</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing</topic><topic>Germ-Line Mutation</topic><topic>Hamartoma Syndrome, Multiple - diagnosis</topic><topic>Hamartoma Syndrome, Multiple - genetics</topic><topic>Hamartoma Syndrome, Multiple - surgery</topic><topic>Head and Neck Neoplasms - diagnosis</topic><topic>Head and Neck Neoplasms - genetics</topic><topic>Head and Neck Neoplasms - surgery</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>Magnetic Resonance Imaging - methods</topic><topic>Middle Aged</topic><topic>Mitochondrial Diseases - diagnosis</topic><topic>Mitochondrial Diseases - genetics</topic><topic>Mitochondrial Diseases - surgery</topic><topic>neck paraganglioma</topic><topic>Neoplasms, Multiple Primary - diagnosis</topic><topic>Neoplasms, Multiple Primary - genetics</topic><topic>Neoplasms, Multiple Primary - surgery</topic><topic>papillary thyroid cancer</topic><topic>Paraganglioma - diagnosis</topic><topic>Paraganglioma - genetics</topic><topic>Paraganglioma - surgery</topic><topic>pituitary adenoma</topic><topic>Pituitary Neoplasms - diagnosis</topic><topic>Pituitary Neoplasms - genetics</topic><topic>Pituitary Neoplasms - surgery</topic><topic>prolactinoma</topic><topic>Rare Diseases</topic><topic>Tomography, X-Ray Computed - methods</topic><topic>Ultrasonography, Doppler</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Efstathiadou, Zoe A.</creatorcontrib><creatorcontrib>Sapranidis, Michail</creatorcontrib><creatorcontrib>Anagnostis, Panagiotis</creatorcontrib><creatorcontrib>Kita, Marina D.</creatorcontrib><creatorcontrib>Rosenthal, Eben L.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Head & neck</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Efstathiadou, Zoe A.</au><au>Sapranidis, Michail</au><au>Anagnostis, Panagiotis</au><au>Kita, Marina D.</au><au>Rosenthal, Eben L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Unusual case of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma</atitle><jtitle>Head & neck</jtitle><addtitle>Head Neck</addtitle><date>2014-01</date><risdate>2014</risdate><volume>36</volume><issue>1</issue><spage>E12</spage><epage>E16</epage><pages>E12-E16</pages><issn>1043-3074</issn><eissn>1097-0347</eissn><coden>HEANEE</coden><abstract>Background
Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together.
Methods
The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43‐year‐old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma.
Results
Germline mutation analysis of phosphatase and tensin homolog (PTEN), succinate dehydrogenase subunit B (SDHB), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit D (SDHD) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the PTEN gene and 1 polymorphic site in exon 1 of the SDHB gene, but absence of known pathogenic mutations.
Conclusion
The coexistence of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma is described for the first time, and could represent a novel genetic syndrome with an as yet unidentified common genetic basis. © 2013 Wiley Periodicals, Inc. Head Neck 36: E12–E16, 2014</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>23804288</pmid><doi>10.1002/hed.23420</doi><tpages>5</tpages></addata></record> |
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| subjects | Biopsy, Needle Cowden‐like syndrome Female Genetic Predisposition to Disease Genetic Testing Germ-Line Mutation Hamartoma Syndrome, Multiple - diagnosis Hamartoma Syndrome, Multiple - genetics Hamartoma Syndrome, Multiple - surgery Head and Neck Neoplasms - diagnosis Head and Neck Neoplasms - genetics Head and Neck Neoplasms - surgery Humans Immunohistochemistry Magnetic Resonance Imaging - methods Middle Aged Mitochondrial Diseases - diagnosis Mitochondrial Diseases - genetics Mitochondrial Diseases - surgery neck paraganglioma Neoplasms, Multiple Primary - diagnosis Neoplasms, Multiple Primary - genetics Neoplasms, Multiple Primary - surgery papillary thyroid cancer Paraganglioma - diagnosis Paraganglioma - genetics Paraganglioma - surgery pituitary adenoma Pituitary Neoplasms - diagnosis Pituitary Neoplasms - genetics Pituitary Neoplasms - surgery prolactinoma Rare Diseases Tomography, X-Ray Computed - methods Ultrasonography, Doppler |
| title | Unusual case of Cowden‐like syndrome, neck paraganglioma, and pituitary adenoma |
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