Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome
It is insufficient to distinguish benign tumors from malignant pheochromocytoma using histological analyses of resected tissue alone. We experienced an 18-year-old woman who complained of severe headaches in whom hypertension was revealed. She was suspected of having a malignant tumor based on her c...
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Veröffentlicht in: | Internal Medicine 2013, Vol.52(2), pp.281-284 |
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container_title | Internal Medicine |
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creator | Sugisawa, Chiho Okada, Yosuke Arao, Tadashi Mori, Hiroko Nishida, Keiko Isobe, Kazumasa Takekoshi, Kazuhiro Tanaka, Yoshiya |
description | It is insufficient to distinguish benign tumors from malignant pheochromocytoma using histological analyses of resected tissue alone. We experienced an 18-year-old woman who complained of severe headaches in whom hypertension was revealed. She was suspected of having a malignant tumor based on her clinical characteristics, despite showing no evidence of metastatic lesions. The patient was diagnosed with an aggressive form of hereditary pheochromocytoma-paraganglioma syndrome (HPPS) based on immunohistochemical analyses and genetic testing. The present case indicates that conducting genetic testing, including SDHB mutation analyses, is required to determine the prognosis in patients highly suspected of having HPPS. |
doi_str_mv | 10.2169/internalmedicine.52.8223 |
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We experienced an 18-year-old woman who complained of severe headaches in whom hypertension was revealed. She was suspected of having a malignant tumor based on her clinical characteristics, despite showing no evidence of metastatic lesions. The patient was diagnosed with an aggressive form of hereditary pheochromocytoma-paraganglioma syndrome (HPPS) based on immunohistochemical analyses and genetic testing. The present case indicates that conducting genetic testing, including SDHB mutation analyses, is required to determine the prognosis in patients highly suspected of having HPPS.</description><identifier>ISSN: 0918-2918</identifier><identifier>EISSN: 1349-7235</identifier><identifier>DOI: 10.2169/internalmedicine.52.8223</identifier><identifier>PMID: 23318864</identifier><language>eng</language><publisher>Japan: The Japanese Society of Internal Medicine</publisher><subject>Adolescent ; Female ; Genetic Diseases, Inborn - diagnosis ; Genetic Diseases, Inborn - genetics ; Genetic Diseases, Inborn - surgery ; hereditary pheochromocytoma-paraganglioma syndrome ; Humans ; malignant pheochromocytoma ; Paraganglioma - diagnosis ; Paraganglioma - genetics ; Paraganglioma - surgery ; Pheochromocytoma - diagnosis ; Pheochromocytoma - genetics ; Pheochromocytoma - surgery ; SDHB ; secondary hypertension ; Syndrome</subject><ispartof>Internal Medicine, 2013, Vol.52(2), pp.281-284</ispartof><rights>2013 by The Japanese Society of Internal Medicine</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c546t-40994cc5e4413ad92481d7b2599a8ec8c08fe22d6f119835c5c5f93f04482b093</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,1877,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23318864$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sugisawa, Chiho</creatorcontrib><creatorcontrib>Okada, Yosuke</creatorcontrib><creatorcontrib>Arao, Tadashi</creatorcontrib><creatorcontrib>Mori, Hiroko</creatorcontrib><creatorcontrib>Nishida, Keiko</creatorcontrib><creatorcontrib>Isobe, Kazumasa</creatorcontrib><creatorcontrib>Takekoshi, Kazuhiro</creatorcontrib><creatorcontrib>Tanaka, Yoshiya</creatorcontrib><title>Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome</title><title>Internal Medicine</title><addtitle>Intern. Med.</addtitle><description>It is insufficient to distinguish benign tumors from malignant pheochromocytoma using histological analyses of resected tissue alone. We experienced an 18-year-old woman who complained of severe headaches in whom hypertension was revealed. She was suspected of having a malignant tumor based on her clinical characteristics, despite showing no evidence of metastatic lesions. The patient was diagnosed with an aggressive form of hereditary pheochromocytoma-paraganglioma syndrome (HPPS) based on immunohistochemical analyses and genetic testing. The present case indicates that conducting genetic testing, including SDHB mutation analyses, is required to determine the prognosis in patients highly suspected of having HPPS.</description><subject>Adolescent</subject><subject>Female</subject><subject>Genetic Diseases, Inborn - diagnosis</subject><subject>Genetic Diseases, Inborn - genetics</subject><subject>Genetic Diseases, Inborn - surgery</subject><subject>hereditary pheochromocytoma-paraganglioma syndrome</subject><subject>Humans</subject><subject>malignant pheochromocytoma</subject><subject>Paraganglioma - diagnosis</subject><subject>Paraganglioma - genetics</subject><subject>Paraganglioma - surgery</subject><subject>Pheochromocytoma - diagnosis</subject><subject>Pheochromocytoma - genetics</subject><subject>Pheochromocytoma - surgery</subject><subject>SDHB</subject><subject>secondary hypertension</subject><subject>Syndrome</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMFKAzEQhoMotlZfQXr0sjWZJLvJUUStIiqo55BmZ9uV3WxNtkLf3pTWHkSQgRmG-eYf5idkzOgEWK4va99j8LZpsaxd7XEiYaIA-AEZMi50VgCXh2RINVMZpDQgJzF-UMpVoeGYDIBzplQuhuTqYfWFvm4w63zEfjzFkDR7G9bjlwV2bhG6tnPrvmtttrTBzq2fN3Xqxq9rX6YhnpKjyjYRz3Z1RN5vb96up9nj89399dVj5qTI-0xQrYVzEoVg3JYahGJlMQOptVXolKOqQoAyrxjTikuXotK8okIomFHNR-Riq7sM3ecKY2_aOjpsGuuxW0XDBNO8AMXU_ygUXMocZJFQtUVd6GIMWJllqNv0vmHUbLw2v702EszG67R6vruymqXhfvHH3AQ8bYGP2Ns57gEb-to1-KcybNLuwh50CxsMev4NH1icsg</recordid><startdate>20130101</startdate><enddate>20130101</enddate><creator>Sugisawa, Chiho</creator><creator>Okada, Yosuke</creator><creator>Arao, Tadashi</creator><creator>Mori, Hiroko</creator><creator>Nishida, Keiko</creator><creator>Isobe, Kazumasa</creator><creator>Takekoshi, Kazuhiro</creator><creator>Tanaka, Yoshiya</creator><general>The Japanese Society of Internal Medicine</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><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20130101</creationdate><title>Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome</title><author>Sugisawa, Chiho ; Okada, Yosuke ; Arao, Tadashi ; Mori, Hiroko ; Nishida, Keiko ; Isobe, Kazumasa ; Takekoshi, Kazuhiro ; Tanaka, Yoshiya</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c546t-40994cc5e4413ad92481d7b2599a8ec8c08fe22d6f119835c5c5f93f04482b093</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Female</topic><topic>Genetic Diseases, Inborn - diagnosis</topic><topic>Genetic Diseases, Inborn - genetics</topic><topic>Genetic Diseases, Inborn - surgery</topic><topic>hereditary pheochromocytoma-paraganglioma syndrome</topic><topic>Humans</topic><topic>malignant pheochromocytoma</topic><topic>Paraganglioma - diagnosis</topic><topic>Paraganglioma - genetics</topic><topic>Paraganglioma - surgery</topic><topic>Pheochromocytoma - diagnosis</topic><topic>Pheochromocytoma - genetics</topic><topic>Pheochromocytoma - surgery</topic><topic>SDHB</topic><topic>secondary hypertension</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sugisawa, Chiho</creatorcontrib><creatorcontrib>Okada, Yosuke</creatorcontrib><creatorcontrib>Arao, Tadashi</creatorcontrib><creatorcontrib>Mori, Hiroko</creatorcontrib><creatorcontrib>Nishida, Keiko</creatorcontrib><creatorcontrib>Isobe, Kazumasa</creatorcontrib><creatorcontrib>Takekoshi, Kazuhiro</creatorcontrib><creatorcontrib>Tanaka, Yoshiya</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><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sugisawa, Chiho</au><au>Okada, Yosuke</au><au>Arao, Tadashi</au><au>Mori, Hiroko</au><au>Nishida, Keiko</au><au>Isobe, Kazumasa</au><au>Takekoshi, Kazuhiro</au><au>Tanaka, Yoshiya</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. Med.</addtitle><date>2013-01-01</date><risdate>2013</risdate><volume>52</volume><issue>2</issue><spage>281</spage><epage>284</epage><pages>281-284</pages><issn>0918-2918</issn><eissn>1349-7235</eissn><abstract>It is insufficient to distinguish benign tumors from malignant pheochromocytoma using histological analyses of resected tissue alone. We experienced an 18-year-old woman who complained of severe headaches in whom hypertension was revealed. She was suspected of having a malignant tumor based on her clinical characteristics, despite showing no evidence of metastatic lesions. The patient was diagnosed with an aggressive form of hereditary pheochromocytoma-paraganglioma syndrome (HPPS) based on immunohistochemical analyses and genetic testing. The present case indicates that conducting genetic testing, including SDHB mutation analyses, is required to determine the prognosis in patients highly suspected of having HPPS.</abstract><cop>Japan</cop><pub>The Japanese Society of Internal Medicine</pub><pmid>23318864</pmid><doi>10.2169/internalmedicine.52.8223</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Adolescent Female Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic Diseases, Inborn - surgery hereditary pheochromocytoma-paraganglioma syndrome Humans malignant pheochromocytoma Paraganglioma - diagnosis Paraganglioma - genetics Paraganglioma - surgery Pheochromocytoma - diagnosis Pheochromocytoma - genetics Pheochromocytoma - surgery SDHB secondary hypertension Syndrome |
title | Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome |
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