Pheochromocytomas and paragangliomas: clinical and genetic approaches

被引：17
作者：
Soares Costa, Marcia Helena [1 ]
Ortiga-Carvalho, Tania M. [2 ]
Violante, Alice Dutra [3 ]
Vaisman, Mario [3 ]
机构：
[1] Fed Univ State Rio De Janeiro, Div Endocrinol, Rio De Janeiro, Brazil
[2] Univ Fed Rio de Janeiro, Carlos Chagas Filho Biophys Inst, Lab Translat Endocrinol, Rio De Janeiro, Brazil
[3] Univ Fed Rio de Janeiro, Div Endocrinol, Rio De Janeiro, Brazil
来源：
FRONTIERS IN ENDOCRINOLOGY | 2015年 / 6卷
关键词：
pheochromocytomas; MEN2; succinate dehydrogenase; VHL; neurofibromatosis; HIPPEL-LINDAU-DISEASE; MULTIPLE ENDOCRINE NEOPLASIA; APPARENTLY SPORADIC PHEOCHROMOCYTOMAS; CARNEY-STRATAKIS-SYNDROME; GASTRIC STROMAL SARCOMA; OF-THE-ART; GERMLINE MUTATIONS; SUCCINATE-DEHYDROGENASE; NEUROFIBROMATOSIS TYPE-1; VHL GENE;
D O I：
10.3389/fendo.2015.00126
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors derived from the chromaffin tissue. Diagnosis of these tumors is extremely important as they are linked to the hypertension syndrome with great cardiovascular morbidity and mortality. A great majority of PCCs and PGLs are sporadic and benign tumors; however, the classic idea of 10% exception of these features is changing. The description of new genes linked to familial forms of PCC/PGLs, such as succinate dehydrogenase (SDH) complex subunits, KIF1B beta, EGLN1, TMEM127, and MAX, added to the well-known PCC familial syndrome (MEN2, VHL, and neurofibromatosis type 1) presents new challenges for diagnosis. In this review, we discuss the diversity of clinical and genetic approaches to this syndrome as well the diverse criteria that should guide genetic investigation.
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页数：9
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