Hereditary pheochromocytoma and paraganglioma
Identifieur interne : 001E29 ( Main/Exploration ); précédent : 001E28; suivant : 001E30Hereditary pheochromocytoma and paraganglioma
Auteurs : Peter J. Mazzaglia [États-Unis]Source :
- Journal of Surgical Oncology [ 0022-4790 ] ; 2012-10-01.
English descriptors
- Teeft :
- Algorithm, Bilateral, Biochemical testing, Catecholamine, Clin, Clin endocrinol metab, Dehydrogenase, Endocrinol, Epinephrine, Family history, Gene mutations, Genetic, Genetic mutation, Genetic mutations, Genetic screening, Genetic testing, Germline, Germline mutation, Germline mutations, Imaging, Malignant, Malignant pheo, Medullary thyroid cancer, Metab, Metanephrines, Mutation, Neck pgls, Negative family history, Norepinephrine, Oncology, Other tumors, Paraganglioma, Paragangliomas, Pgls, Pheo, Pheo development, Pheochromocytoma, Pheos, Plasma metanephrines, Positive family history, Sdhb, Sdhd, Sporadic disease, Succinate, Succinate dehydrogenase, Suppressor, Surgical oncology, Syndrome, Tumor suppressor gene, Weighted imaging.
Abstract
Hereditary pheochromocytomas (pheo) and paragangliomas (pgl) are caused by identifiable germline mutations. The previously well‐known associated syndromes include neurofibromatosis type 1, multiple endocrine neoplasia 2 A and B, and von Hippel‐Lindau syndrome. Newly discovered mutations in the succinate dehydrogenase gene complex have been identified as a cause of inherited pgls and pheos. It is now clear that up to 30% of patients presenting with sporadic pheos/pgls harbor a recognizable germline mutation, and therefore directed genetic testing is recommended for many of these patients. J. Surg. Oncol. 2012; 106:580–585. © 2012 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/jso.23157
Affiliations:
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Mazzaglia</name><affiliation></affiliation><affiliation></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Rhode Island</region></placeName><wicri:cityArea>Correspondence address: University Surgical Associates, 2 Dudley St. Providence</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Journal of Surgical Oncology</title><title level="j" type="sub">Seminars in Surgical Oncology: Adrenal</title><title level="j" type="alt">JOURNAL OF SURGICAL ONCOLOGY</title><idno type="ISSN">0022-4790</idno><idno type="eISSN">1096-9098</idno><imprint><biblScope unit="vol">106</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="580">580</biblScope><biblScope unit="page" to="585">585</biblScope><biblScope unit="page-count">6</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-10-01">2012-10-01</date></imprint><idno type="ISSN">0022-4790</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-4790</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Algorithm</term><term>Bilateral</term><term>Biochemical testing</term><term>Catecholamine</term><term>Clin</term><term>Clin endocrinol metab</term><term>Dehydrogenase</term><term>Endocrinol</term><term>Epinephrine</term><term>Family history</term><term>Gene mutations</term><term>Genetic</term><term>Genetic mutation</term><term>Genetic mutations</term><term>Genetic screening</term><term>Genetic testing</term><term>Germline</term><term>Germline mutation</term><term>Germline mutations</term><term>Imaging</term><term>Malignant</term><term>Malignant pheo</term><term>Medullary thyroid cancer</term><term>Metab</term><term>Metanephrines</term><term>Mutation</term><term>Neck pgls</term><term>Negative family history</term><term>Norepinephrine</term><term>Oncology</term><term>Other tumors</term><term>Paraganglioma</term><term>Paragangliomas</term><term>Pgls</term><term>Pheo</term><term>Pheo development</term><term>Pheochromocytoma</term><term>Pheos</term><term>Plasma metanephrines</term><term>Positive family history</term><term>Sdhb</term><term>Sdhd</term><term>Sporadic disease</term><term>Succinate</term><term>Succinate dehydrogenase</term><term>Suppressor</term><term>Surgical oncology</term><term>Syndrome</term><term>Tumor suppressor gene</term><term>Weighted imaging</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hereditary pheochromocytomas (pheo) and paragangliomas (pgl) are caused by identifiable germline mutations. The previously well‐known associated syndromes include neurofibromatosis type 1, multiple endocrine neoplasia 2 A and B, and von Hippel‐Lindau syndrome. Newly discovered mutations in the succinate dehydrogenase gene complex have been identified as a cause of inherited pgls and pheos. It is now clear that up to 30% of patients presenting with sporadic pheos/pgls harbor a recognizable germline mutation, and therefore directed genetic testing is recommended for many of these patients. J. Surg. Oncol. 2012; 106:580–585. © 2012 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Rhode Island</li></region></list><tree><country name="États-Unis"><region name="Rhode Island"><name sortKey="Mazzaglia, Peter J" sort="Mazzaglia, Peter J" uniqKey="Mazzaglia P" first="Peter J." last="Mazzaglia">Peter J. Mazzaglia</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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