The genetics of phaeochromocytoma: using clinical features to guide genetic testing
Phaeochromocytoma is a rare, usually benign, tumour predominantly managed by endocrinologists. Over the last decade, major advances have been made in understanding the molecular genetic basis of adrenal and extra-adrenal phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and ext...
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Veröffentlicht in: | European journal of endocrinology 2012-02, Vol.166 (2), p.151-158 |
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description | Phaeochromocytoma is a rare, usually benign, tumour predominantly managed by endocrinologists. Over the last decade, major advances have been made in understanding the molecular genetic basis of adrenal and extra-adrenal phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and extra-adrenal functional paraganglioma (eFPGL)). In contrast to the previously held belief that only 10% of cases had a genetic component, currently about one-third of all aPCA/eFPGL cases are thought to be attributable to germline mutations in at least nine genes (NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, MAX and VHL). Recognition of inherited cases of aPCA/eFPGL is critical for optimal patient management. Thus, the identification of a germline mutation can predict risks of malignancy, recurrent disease, associated non-chromaffin tumours and risks to other family members. Mutation carriers should be offered specific surveillance programmes (according to the relevant gene). In this review, we will describe the genetics of aPCA/eFPGL and strategies for genetic testing. |
doi_str_mv | 10.1530/EJE-11-0497 |
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Over the last decade, major advances have been made in understanding the molecular genetic basis of adrenal and extra-adrenal phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and extra-adrenal functional paraganglioma (eFPGL)). In contrast to the previously held belief that only 10% of cases had a genetic component, currently about one-third of all aPCA/eFPGL cases are thought to be attributable to germline mutations in at least nine genes (NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, MAX and VHL). Recognition of inherited cases of aPCA/eFPGL is critical for optimal patient management. Thus, the identification of a germline mutation can predict risks of malignancy, recurrent disease, associated non-chromaffin tumours and risks to other family members. Mutation carriers should be offered specific surveillance programmes (according to the relevant gene). In this review, we will describe the genetics of aPCA/eFPGL and strategies for genetic testing.</description><identifier>ISSN: 0804-4643</identifier><identifier>EISSN: 1479-683X</identifier><identifier>DOI: 10.1530/EJE-11-0497</identifier><identifier>PMID: 21896620</identifier><language>eng</language><publisher>Bristol: BioScientifica</publisher><subject>Adrenal Gland Neoplasms - diagnosis ; Adrenal Gland Neoplasms - genetics ; Adrenals. Adrenal axis. Renin-angiotensin system (diseases) ; Biological and medical sciences ; Endocrinopathies ; Fundamental and applied biological sciences. Psychology ; Genes, Neurofibromatosis 1 - physiology ; Genetic Predisposition to Disease ; Genetic Testing - methods ; Germ-Line Mutation ; Humans ; Medical sciences ; Molecular Diagnostic Techniques ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Paraganglioma - genetics ; Pheochromocytoma - diagnosis ; Pheochromocytoma - genetics ; Practice Guidelines as Topic ; Prevention and actions ; Proto-Oncogene Proteins c-ret - genetics ; Proto-Oncogene Proteins c-ret - physiology ; Public health. Hygiene ; Public health. Hygiene-occupational medicine ; Vertebrates: endocrinology ; Von Hippel-Lindau Tumor Suppressor Protein - genetics ; Von Hippel-Lindau Tumor Suppressor Protein - physiology</subject><ispartof>European journal of endocrinology, 2012-02, Vol.166 (2), p.151-158</ispartof><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25579314$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21896620$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>JAFRI, Mariam</creatorcontrib><creatorcontrib>MAHER, Eamonn R</creatorcontrib><title>The genetics of phaeochromocytoma: using clinical features to guide genetic testing</title><title>European journal of endocrinology</title><addtitle>Eur J Endocrinol</addtitle><description>Phaeochromocytoma is a rare, usually benign, tumour predominantly managed by endocrinologists. Over the last decade, major advances have been made in understanding the molecular genetic basis of adrenal and extra-adrenal phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and extra-adrenal functional paraganglioma (eFPGL)). In contrast to the previously held belief that only 10% of cases had a genetic component, currently about one-third of all aPCA/eFPGL cases are thought to be attributable to germline mutations in at least nine genes (NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, MAX and VHL). Recognition of inherited cases of aPCA/eFPGL is critical for optimal patient management. Thus, the identification of a germline mutation can predict risks of malignancy, recurrent disease, associated non-chromaffin tumours and risks to other family members. Mutation carriers should be offered specific surveillance programmes (according to the relevant gene). In this review, we will describe the genetics of aPCA/eFPGL and strategies for genetic testing.</description><subject>Adrenal Gland Neoplasms - diagnosis</subject><subject>Adrenal Gland Neoplasms - genetics</subject><subject>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</subject><subject>Biological and medical sciences</subject><subject>Endocrinopathies</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes, Neurofibromatosis 1 - physiology</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing - methods</subject><subject>Germ-Line Mutation</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Molecular Diagnostic Techniques</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Paraganglioma - genetics</subject><subject>Pheochromocytoma - diagnosis</subject><subject>Pheochromocytoma - genetics</subject><subject>Practice Guidelines as Topic</subject><subject>Prevention and actions</subject><subject>Proto-Oncogene Proteins c-ret - genetics</subject><subject>Proto-Oncogene Proteins c-ret - physiology</subject><subject>Public health. Hygiene</subject><subject>Public health. Hygiene-occupational medicine</subject><subject>Vertebrates: endocrinology</subject><subject>Von Hippel-Lindau Tumor Suppressor Protein - genetics</subject><subject>Von Hippel-Lindau Tumor Suppressor Protein - physiology</subject><issn>0804-4643</issn><issn>1479-683X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpF0D1PwzAQBmALgaAUJnbkBTEZzh9xYjZUlS9VYqBIbJFzcVqjJA5xMvTfE4kC093wvHe6I-SCww1PJNwuX5aMcwbKpAdkxlVqmM7kxyGZQQaKKa3kCTmN8ROATz0ckxPBM6O1gBl5W28d3bjWDR4jDRXtttYF3PahCbgbQmPv6Bh9u6FY-9ajrWnl7DD2LtIh0M3oy788HVwcJnpGjipbR3e-r3Py_rBcL57Y6vXxeXG_Yp1QMLAClS5VYWRSyTS1QmjjTAaCWyjQFgIlluCU4S7NEoO24qgAS2sReJUIJefk-mdu14evcdqdNz6iq2vbujDG3PCUa6E1TPJyL8eicWXe9b6x_S7__cMErvbAxunGqrct-vjvkiQ1kiv5DULebGE</recordid><startdate>20120201</startdate><enddate>20120201</enddate><creator>JAFRI, Mariam</creator><creator>MAHER, Eamonn R</creator><general>BioScientifica</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20120201</creationdate><title>The genetics of phaeochromocytoma: using clinical features to guide genetic testing</title><author>JAFRI, Mariam ; MAHER, Eamonn R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p240t-bc46d4b935f377a2269e98021a0bcab2c3cd0e491e7859caf1c40cdaac01f5243</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adrenal Gland Neoplasms - diagnosis</topic><topic>Adrenal Gland Neoplasms - genetics</topic><topic>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</topic><topic>Biological and medical sciences</topic><topic>Endocrinopathies</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genes, Neurofibromatosis 1 - physiology</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing - methods</topic><topic>Germ-Line Mutation</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Molecular Diagnostic Techniques</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Paraganglioma - genetics</topic><topic>Pheochromocytoma - diagnosis</topic><topic>Pheochromocytoma - genetics</topic><topic>Practice Guidelines as Topic</topic><topic>Prevention and actions</topic><topic>Proto-Oncogene Proteins c-ret - genetics</topic><topic>Proto-Oncogene Proteins c-ret - physiology</topic><topic>Public health. Hygiene</topic><topic>Public health. Hygiene-occupational medicine</topic><topic>Vertebrates: endocrinology</topic><topic>Von Hippel-Lindau Tumor Suppressor Protein - genetics</topic><topic>Von Hippel-Lindau Tumor Suppressor Protein - physiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>JAFRI, Mariam</creatorcontrib><creatorcontrib>MAHER, Eamonn R</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>MEDLINE - Academic</collection><jtitle>European journal of endocrinology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>JAFRI, Mariam</au><au>MAHER, Eamonn R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The genetics of phaeochromocytoma: using clinical features to guide genetic testing</atitle><jtitle>European journal of endocrinology</jtitle><addtitle>Eur J Endocrinol</addtitle><date>2012-02-01</date><risdate>2012</risdate><volume>166</volume><issue>2</issue><spage>151</spage><epage>158</epage><pages>151-158</pages><issn>0804-4643</issn><eissn>1479-683X</eissn><abstract>Phaeochromocytoma is a rare, usually benign, tumour predominantly managed by endocrinologists. Over the last decade, major advances have been made in understanding the molecular genetic basis of adrenal and extra-adrenal phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and extra-adrenal functional paraganglioma (eFPGL)). In contrast to the previously held belief that only 10% of cases had a genetic component, currently about one-third of all aPCA/eFPGL cases are thought to be attributable to germline mutations in at least nine genes (NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, MAX and VHL). Recognition of inherited cases of aPCA/eFPGL is critical for optimal patient management. Thus, the identification of a germline mutation can predict risks of malignancy, recurrent disease, associated non-chromaffin tumours and risks to other family members. Mutation carriers should be offered specific surveillance programmes (according to the relevant gene). In this review, we will describe the genetics of aPCA/eFPGL and strategies for genetic testing.</abstract><cop>Bristol</cop><pub>BioScientifica</pub><pmid>21896620</pmid><doi>10.1530/EJE-11-0497</doi><tpages>8</tpages></addata></record> |
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subjects | Adrenal Gland Neoplasms - diagnosis Adrenal Gland Neoplasms - genetics Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Biological and medical sciences Endocrinopathies Fundamental and applied biological sciences. Psychology Genes, Neurofibromatosis 1 - physiology Genetic Predisposition to Disease Genetic Testing - methods Germ-Line Mutation Humans Medical sciences Molecular Diagnostic Techniques Non tumoral diseases. Target tissue resistance. Benign neoplasms Paraganglioma - genetics Pheochromocytoma - diagnosis Pheochromocytoma - genetics Practice Guidelines as Topic Prevention and actions Proto-Oncogene Proteins c-ret - genetics Proto-Oncogene Proteins c-ret - physiology Public health. Hygiene Public health. Hygiene-occupational medicine Vertebrates: endocrinology Von Hippel-Lindau Tumor Suppressor Protein - genetics Von Hippel-Lindau Tumor Suppressor Protein - physiology |
title | The genetics of phaeochromocytoma: using clinical features to guide genetic testing |
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