Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder?
Adrenal Gland Neoplasms
/ complications
Cardiovascular Diseases
/ etiology
Genetic Predisposition to Disease
Genetic Testing
Germ-Line Mutation
Humans
Mass Screening
Multiple Endocrine Neoplasia Type 2a
/ diagnosis
Neurofibromatosis 1
/ diagnosis
Paraganglioma
/ complications
Pheochromocytoma
/ complications
Syndrome
von Hippel-Lindau Disease
/ diagnosis
Genetics
Hereditary
Metastatic pheochromocytoma
Paraganglioma
Pheochromocytoma
Journal
Current cardiology reports
ISSN: 1534-3170
Titre abrégé: Curr Cardiol Rep
Pays: United States
ID NLM: 100888969
Informations de publication
Date de publication:
31 07 2019
31 07 2019
Historique:
entrez:
2
8
2019
pubmed:
2
8
2019
medline:
26
3
2020
Statut:
epublish
Résumé
Pheochromocytomas and paragangliomas (PCC/PGL) are neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia which often over-secrete catecholamines leading to cardiovascular morbidity and even mortality. These unique tumors have the highest heritability of all solid tumor types with up to 35-40% of patients with PCC/PGL having a germline predisposition. PURPOSE OF REVIEW: To review the germline susceptibility genes and clinical syndromes associated with PCC/PGL. RECENT FINDINGS: There are over 12 PCC/PGL susceptibility genes identified in a wide range of pathways. Each gene is associated with a clinical syndrome with varying penetrance for both primary and metastatic PCC/PGL and often includes increased risk for additional tumors besides PCC/PGL. Patients with sporadic or hereditary PCC/PGL should be monitored for life given the risk of multiple primary tumors, recurrence, and metastatic disease. All patients with PCC/PGL should be referred for consideration for clinical genetic testing given the high heritability of disease.
Identifiants
pubmed: 31367972
doi: 10.1007/s11886-019-1184-y
pii: 10.1007/s11886-019-1184-y
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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