Open AccessAn update on the genetics of pheochromocytoma
Author(s) -
David Karásek,
Urvi Shah,
Zdeněk Fryšák,
Constantine A. Stratakis,
Karel Pacák
Publication year - 2012
Publication title -
journal of human hypertension
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.737
H-Index - 95
eISSN - 1476-5527
pISSN - 0950-9240
DOI - 10.1038/jhh.2012.20
Subject(s) - pheochromocytoma , medicine , mutation , paraganglioma , phenotype , genetic testing , genetic counseling , first line , immunohistochemistry , bioinformatics , gene , genetics , pathology , biology
Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30% or more of them are thought to be of inherited origin due to germ-line mutations in at least 10 well-characterized genes. There are data linking specific genotypes of these tumors to specific locations, typical biochemical phenotypes or future clinical behaviors. Conversely, clinical features, catecholamine production and immunohistochemistry evaluation can help with the proper order of genetic testing for PHEO and PGL. The identification of a germ-line mutation can lead to an early diagnosis, appropriate treatment, regular surveillance and better prognosis not only for the patient but also for their family members. Moreover, the latest discoveries in molecular pathogenesis of these tumors will provide an important basis for future personalized therapy.