Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches

Frontiers in Endocrinology
Marcia Helena Soares CostaMario Vaisman

Abstract

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, KIF1Bβ, 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.

References

Jan 1, 1991·Cold Spring Harbor Symposia on Quantitative Biology·E M BlackwoodR N Eisenman
Jan 1, 1986·Annals of the New York Academy of Sciences·J C CareyJ Kivlin
May 1, 1982·Hypertension·E L BravoD G Vidt
Jul 29, 1998·Journal of Internal Medicine·H P Neumann, B U Bender
Dec 22, 1999·European Journal of Endocrinology·M MannelliA Conti
Dec 12, 2001·The Journal of Clinical Endocrinology and Metabolism·M L BrandiS J Marx
Jan 12, 2002·Hormone Research·R V Thakker
Feb 22, 2002·American Journal of Medical Genetics·J Aidan Carney, Constantine A Stratakis
May 10, 2002·The New England Journal of Medicine·Hartmut P H NeumannUNKNOWN Freiburg-Warsaw-Columbus Pheochromocytoma Study Group
Nov 5, 2002·The Journal of Clinical Endocrinology and Metabolism·Gregor WeirichHiltrud Brauch
Aug 16, 2003·Endocrine Reviews·Emmanuel L Bravo, Rodrigo Tagle
Aug 26, 2004·JAMA : the Journal of the American Medical Association·Hartmut P H NeumannUNKNOWN European-American Paraganglioma Study Group
Jun 7, 2005·Proceedings of the National Academy of Sciences of the United States of America·Cory M JohannessenKaren Cichowski
Aug 17, 2005·PLoS Genetics·Patricia L M DahiaCharles D Stiles
Aug 23, 2005·Lancet·Jacques W M LendersKarel Pacak
Oct 27, 2005·JAMA : the Journal of the American Medical Association·Francesca SchiaviUNKNOWN European-American Paraganglioma Study Group
Nov 30, 2005·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Laurence AmarAnne-Paule Gimenez-Roqueplo
Dec 1, 2005·The Journal of Clinical Endocrinology and Metabolism·Diana E BennBruce G Robinson
Jun 1, 2006·The Journal of Clinical Endocrinology and Metabolism·Camilo JiménezRobert F Gagel
Jun 23, 2006·The New England Journal of Medicine·Birke BauschUNKNOWN European-American Pheochromocytoma Study Group
Nov 15, 2006·Annals of the New York Academy of Sciences·Debbie L CohenRaymond R Townsend
Nov 16, 2006·Journal of Medical Genetics·Rosalie E FernerAmanda Kirby
Jan 24, 2007·Nature Clinical Practice. Endocrinology & Metabolism·Karel PacakUNKNOWN International Symposium on Pheochromocytoma
Jun 15, 2007·Journal of Medical Genetics·M MannelliG Parenti
Oct 5, 2007·Reviews in Endocrine & Metabolic Disorders·William F Young
Dec 8, 2007·Surgery·Frank J QuayleJeffrey F Moley
Jan 23, 2008·Arquivos brasileiros de endocrinologia e metabologia·Juliana B CruzCélia R Nogueira
Jan 24, 2008·The Journal of Clinical Endocrinology and Metabolism·Pascal PignyPhilippe Caron
Sep 17, 2008·World Journal of Surgery·Jose M RodriguezPascual Parrilla
Nov 26, 2008·European Journal of Endocrinology·Pascal PignyNicole Porchet
Jan 2, 2009·Pediatrics·Virginia C WilliamsBernard L Maria
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
Apr 4, 2009·Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Métabolisme·A CascónM Robledo
May 21, 2009·The Journal of Clinical Endocrinology and Metabolism·Nelly BurnichonUNKNOWN PGL.NET network
May 28, 2009·Thyroid : Official Journal of the American Thyroid Association·UNKNOWN American Thyroid Association Guidelines Task ForceSamuel A Wells
Jun 23, 2009·Journal of the American Academy of Dermatology·Kevin P BoydAmy Theos

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Citations

Jul 23, 2019·European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery·Ying-Han R HsuAnja C Roden
Apr 14, 2017·High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension·Agata BuonaceraLorenzo Malatino
Jun 27, 2019·Internal and Emergency Medicine·Brett Stephen Mansfield, Reyna Daya
May 10, 2019·Abdominal Radiology·Venkata S KatabathinaSrinivasa R Prasad
Aug 12, 2021·Journal of the Endocrine Society·Nida SiddiquiZaheer Bayat

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Methods Mentioned

BETA
transfection
GTPase
transcription profiling
prophylactic surgery

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