Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder?

Current Cardiology Reports
Lauren Fishbein

Abstract

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.

References

Dec 22, 1999·European Journal of Endocrinology·M MannelliA Conti
Nov 4, 2000·Nature Genetics·S Niemann, U Müller
Feb 28, 2002·Nature Genetics·Ian P M TomlinsonUNKNOWN Multiple Leiomyoma Consortium
Mar 21, 2002·JAMA : the Journal of the American Medical Association·Jacques W M LendersGraeme Eisenhofer
May 11, 2002·Science·Jung-Hyun MinNikola P Pavletich
Dec 20, 2005·Journal of Neurology, Neurosurgery, and Psychiatry·R HorváthM Jaksch
Jun 23, 2006·The New England Journal of Medicine·Birke BauschUNKNOWN European-American Pheochromocytoma Study Group
Oct 7, 2006·Human Mutation·Kai Ren OngEamonn R Maher
Nov 15, 2006·Annals of the New York Academy of Sciences·Debbie L CohenRaymond R Townsend
May 9, 2008·The Journal of Clinical Endocrinology and Metabolism·Hartmut P H Neumann, Zoran Erlic
Feb 19, 2009·The Journal of Clinical Endocrinology and Metabolism·Massimo MannelliUNKNOWN Italian Pheochromocytoma/Paraganglioma Network
Apr 2, 2009·The Journal of Clinical Endocrinology and Metabolism·Carsten C BoedekerHartmut P H Neumann
Jun 6, 2009·European Journal of Endocrinology·Robert KopetschkeMarcus Quinkler
Jul 28, 2009·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Martha A ZeigerUNKNOWN American Association of Endocrine Surgeons
Oct 8, 2009·The Journal of Clinical Endocrinology and Metabolism·José GaalRonald R de Krijger
Dec 8, 2009·The Journal of Clinical Endocrinology and Metabolism·H BruynzeelG Kazemier
Jan 15, 2010·The Lancet Oncology·Jean-Pierre BayleyMercedes Robledo
Feb 16, 2010·Nature Genetics·Yuejuan QinPatricia L M Dahia
May 21, 2010·Human Molecular Genetics·Nelly BurnichonAnne-Paule Gimenez-Roqueplo
Nov 3, 2010·Archives of Dermatological Research·Laura ZinnamoscaClaudio Letizia
Dec 16, 2010·JAMA : the Journal of the American Medical Association·Li YaoPatricia L M Dahia
Jan 13, 2011·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Henricus P M KunstCor W R J Cremers
Mar 10, 2011·European Journal of Human Genetics : EJHG·Eamonn R MaherStéphane Richard
Jun 21, 2011·Nature Genetics·Iñaki Comino-MéndezAlberto Cascón
Jul 26, 2011·Human Molecular Genetics·Nelly BurnichonAnne-Paule Gimenez-Roqueplo
Sep 23, 2011·The Journal of Clinical Endocrinology and Metabolism·Phey M YeapRobert S Lindsay
Mar 29, 2012·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Nelly BurnichonMercedes Robledo
Aug 31, 2012·The New England Journal of Medicine·Zhengping ZhuangKarel Pacak
Oct 24, 2012·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Felipe R LorenzoJosef T Prchal
Oct 27, 2012·Journal of Medical Genetics·Leonie Theresia van HulsteijnE P M Corssmit
Mar 21, 2013·Annals of Surgical Oncology·Lauren FishbeinKatherine L Nathanson
Nov 28, 2013·The Journal of Clinical Endocrinology and Metabolism·Alexandre BuffetAnne-Paule Gimenez-Roqueplo
Dec 18, 2013·Human Molecular Genetics·Luis Jaime Castro-VegaAnne-Paule Gimenez-Roqueplo
Apr 25, 2014·The Journal of Clinical Endocrinology and Metabolism·Tobias ElseVictoria M Raymond
Jun 4, 2014·The Journal of Clinical Endocrinology and Metabolism·Jacques W M LendersWilliam F Young

❮ Previous
Next ❯

Citations

Mar 23, 2020·Familial Cancer·Caitlin B MauerJonathan Wickiser
Nov 13, 2020·The Journal of Clinical Endocrinology and Metabolism·Alexandre BuffetJean-Pierre Bayley
Jan 13, 2021·Endocrine Pathology·Thomas G PapathomasRonald R de Krijger
Feb 19, 2021·Endocrine Regulations·Neuza Alves SoaresSusana Alexandra Lourenco Ferreira

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.