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Hereditary pheochromocytoma and paraganglioma
Author(s) -
Mazzaglia Peter J.
Publication year - 2012
Publication title -
journal of surgical oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.201
H-Index - 111
eISSN - 1096-9098
pISSN - 0022-4790
DOI - 10.1002/jso.23157
Subject(s) - pheochromocytoma , multiple endocrine neoplasia type 2 , medicine , paraganglioma , germline mutation , multiple endocrine neoplasia , germline , neurofibromatosis , sdhd , mutation , genetics , pathology , gene , biology
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.