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An update on the genetics of pheochromocytoma
#MMPMID22648268
Karasek D
; Shah U
; Frysak Z
; Stratakis C
; Pacak K
J Hum Hypertens
2013[Mar]; 27
(3
): 141-7
PMID22648268
show ga
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.
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