Online citations, reference lists, and bibliographies.

Paroxysmal Hypertension: Pheochromocytoma

G. Eisenhofer, J. Lenders
Published 2018 · Medicine

Cite This
Download PDF
Analyze on Scholarcy
Share
Pheochromocytomas and paragangliomas, arising from respective adrenal and extra-adrenal chromaffin tissue, are infrequent causes of hypertension, but important to consider due to their often fatal nature if undiagnosed. Prevalences vary from less than 2% in patients tested due to hypertension and catecholamine-related symptoms to 7% in patients with incidentalomas and up to 40% in patients with specific hereditary syndromes. Germline and somatic mutations of tumor susceptibility genes are increasingly being recognized as important causes of the tumors that influence disease presentation through differences in activated tumorigenic pathways, including those that control catecholamine biosynthetic and secretory machinery. Biochemical diagnosis is now simplified by measurements of plasma-free metanephrines, the O-methylated metabolites of catecholamines. However, inappropriate application of the test hinders its optimal utility, rendering measurements of urinary fractionated metanephrines more suitable for most nonspecialist centers. When appropriately used, the plasma test not only allows accurate diagnosis but also assessments of underlying mutations, presence of malignancy, as well as tumor size and location. Tumor localization is then usually a simple matter, facilitated also by new functional imaging modalities, choice of which can benefit from consideration of underlying mutations. Management and treatment continues to rely on preoperative blockade of the effects of catecholamines, with surgical intervention usually but not always offering cure. Due to risks of postoperative recurrence, including metastatic involvement, long-term follow-up is important, with increasing indications that the nature of this should be personalized according to underling mutations, as well as size, location, and biochemical features of resected primary tumors.
This paper references
10.1001/ARCHINTE.160.19.2957
Diagnostic efficacy of unconjugated plasma metanephrines for the detection of pheochromocytoma.
W. Raber (2000)
10.1210/JCEM.86.5.7496
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes.
G. Eisenhofer (2001)
10.1530/EJE-16-0189
MANAGEMENT OF ENDOCRINE DISEASE: Recurrence or new tumors after complete resection of pheochromocytomas and paragangliomas: a systematic review and meta-analysis.
Laurence Amar (2016)
10.1210/jc.2009-2830
A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma.
S. Waguespack (2010)
10.1007/s00464-012-2451-9
Outcomes of resection of extra-adrenal pheochromocytomas/paragangliomas in the laparoscopic era: a comparison with adrenal pheochromocytoma
Trudie A. Goers (2012)
10.1200/JCO.2005.03.1484
Genetic testing in pheochromocytoma or functional paraganglioma.
L. Amar (2005)
10.1097/HJH.0b013e32813aeb5a
Free plasma metanephrines as a screening test for pheochromocytoma in low-risk patients
J. Václavík (2007)
10.1210/jc.2013-2600
Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.
A. Buffet (2014)
10.1373/CLINCHEM.2006.070805
Measurement of urinary metanephrines to screen for pheochromocytoma in an unselected hospital referral population.
K. Brain (2006)
10.1016/S0022-5347(01)61900-1
Management of hereditary pheochromocytoma in von Hippel-Lindau kindreds with partial adrenalectomy.
M. Walther (1999)
10.1016/J.IJSU.2007.04.015
Incidence of pheochromocytoma in trauma patients during the management of unrelated illness: a retrospective review.
B. Kirshtein (2007)
10.1210/ER.2002-0031
The clinically inapparent adrenal mass: update in diagnosis and management.
G. Mansmann (2004)
10.1016/j.ccr.2013.04.018
SDH mutations establish a hypermethylator phenotype in paraganglioma.
E. Letouzé (2013)
10.1210/JC.85.2.637
A Survey on Adrenal Incidentaloma in Italy
F. Mantero (2000)
10.3109/00365513.2011.622410
Comparison of plasma metanephrines measured by a commercial immunoassay and urinary catecholamines in the diagnosis of pheochromocytoma
T. Christensen (2011)
10.1677/ERC-07-0045
The optimal imaging of adrenal tumours: a comparison of different methods.
I. Ilias (2007)
Dopamine-secreting pheochromocytoma: an unrecognized entity? Classification of pheochromocytomas according to their type of secretion.
C. Proye (1986)
10.1001/archsurg.2010.159
One hundred two patients with pheochromocytoma treated at a single institution since the introduction of laparoscopic adrenalectomy.
W. Shen (2010)
10.1093/jnci/djt201
Hypoxia-inducible factor signaling in pheochromocytoma: turning the rudder in the right direction.
I. Jochmanová (2013)
10.1530/EJE-16-0033
European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma.
P. Plouin (2016)
10.1210/JC.2004-2025
Biochemical and clinical manifestations of dopamine-producing paragangliomas: utility of plasma methoxytyramine.
G. Eisenhofer (2005)
10.1016/S0022-5347(05)68171-2
von Recklinghausen's disease and pheochromocytomas.
M. Walther (1999)
10.2967/jnumed.115.161018
68Ga-DOTATATE PET/CT in the Localization of Head and Neck Paragangliomas Compared with Other Functional Imaging Modalities and CT/MRI
Ingo Janssen (2016)
10.1001/ARCHSURG.141.12.1199
Estimated risk of pheochromocytoma recurrence after adrenal-sparing surgery in patients with multiple endocrine neoplasia type 2A.
R. Asari (2006)
10.1530/EJE.1.02097
Diagnostic value of various biochemical parameters for the diagnosis of pheochromocytoma in patients with adrenal mass.
N. Unger (2006)
10.1210/JCEM.83.6.4870
Plasma metanephrines are markers of pheochromocytoma produced by catechol-O-methyltransferase within tumors.
G. Eisenhofer (1998)
10.1210/jc.2010-1588
Age at diagnosis of pheochromocytoma differs according to catecholamine phenotype and tumor location.
G. Eisenhofer (2011)
10.1016/j.beem.2009.04.001
Management of adrenal incidentaloma.
M. Terzolo (2009)
10.1291/HYPRES.27.193
Prospective study on the prevalence of secondary hypertension among hypertensive patients visiting a general outpatient clinic in Japan.
M. Omura (2004)
10.1196/ANNALS.1296.027
Leaky catecholamine stores: undue waste or a stress response coping mechanism?
G. Eisenhofer (2004)
10.1093/jnci/djs188
Staging and functional characterization of pheochromocytoma and paraganglioma by 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography.
H. Timmers (2012)
10.1016/B978-0-12-411512-5.00014-2
Role of hypoxia and HIF2α in development of the sympathoadrenal cell lineage and chromaffin cell tumors with distinct catecholamine phenotypic features.
S. Richter (2013)
10.5555/uri:pii:0039606093903247
Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up.
J. Howe (1993)
10.2214/AJR.12.9126
Pheochromocytoma: the range of appearances on ultrasound, CT, MRI, and functional imaging.
Katherine Leung (2013)
10.1373/CLINCHEM.2004.045484
Pheochromocytoma catecholamine phenotypes and prediction of tumor size and location by use of plasma free metanephrines.
G. Eisenhofer (2005)
10.1046/J.1471-4159.1996.66041565.X
Mesenteric organ production, hepatic metabolism, and renal elimination of norepinephrine and its metabolites in humans.
G. Eisenhofer (1996)
10.1016/j.ejca.2011.07.016
Plasma methoxytyramine: a novel biomarker of metastatic pheochromocytoma and paraganglioma in relation to established risk factors of tumour size, location and SDHB mutation status.
G. Eisenhofer (2012)
10.1097/01.SMJ.0000077069.95831.62
Large dopamine-secreting pheochromocytoma: case report.
Sam H Awada (2003)
10.1210/jc.2014-1498
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
J. Lenders (2014)
10.1530/EJE-09-0172
Evaluation of an enzyme immunoassay for plasma-free metanephrines in the diagnosis of catecholamine-secreting tumors.
Michel Procopiou (2009)
10.1373/clinchem.2014.224832
Laboratory evaluation of pheochromocytoma and paraganglioma.
G. Eisenhofer (2014)
10.1016/j.jamcollsurg.2012.10.012
Long-term outcomes of surgical treatment for hereditary pheochromocytoma.
E. Grubbs (2013)
10.1210/JCEM.85.2.6372
A survey on adrenal incidentaloma in Italy. Study Group on Adrenal Tumors of the Italian Society of Endocrinology.
F. Mantero (2000)
10.1210/JCEM.87.3.8277
Adrenal incidentaloma: a new cause of the metabolic syndrome?
M. Terzolo (2002)
10.1055/S-0028-1128139
The protean manifestations of pheochromocytoma.
Manger Wm (2009)
10.1210/jc.2008-1290
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
M. Pęczkowska (2008)
10.1080/00313020802579284
Plasma free metanephrines are superior to urine and plasma catecholamines and urine catecholamine metabolites for the investigation of phaeochromocytoma
P. Hickman (2009)
10.1210/jcem.80.10.7559889
Regional release and removal of catecholamines and extraneuronal metabolism to metanephrines.
G. Eisenhofer (1995)
10.1210/jc.2008-1093
Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.
H. Timmers (2008)
10.1038/ncpendmet0396
Pheochromocytoma: recommendations for clinical practice from the First International Symposium
K. Pacak (2007)
10.1097/01.hjh.0000185714.60788.52
Increased blood pressure variability in pheochromocytoma compared to essential hypertension patients
T. Zelinka (2005)
10.1210/ER.2003-0032
Functional imaging of endocrine tumors: role of positron emission tomography.
K. Pacak (2004)
10.1373/clinchem.2010.153320
Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma.
G. Eisenhofer (2011)
10.1210/jc.2013-1844
Normotensive incidentally discovered pheochromocytomas display specific biochemical, cellular, and molecular characteristics.
M. Haissaguerre (2013)
10.1043/1543-2165(2008)132[1272:PAEPU]2.0.CO;2
Pheochromocytoma and extra-adrenal paraganglioma: updates.
A. Tischler (2008)
10.1038/nrc3648
Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity
P. Dahia (2014)
10.1530/EJE-09-0384
Frequent incidental discovery of phaeochromocytoma: data from a German cohort of 201 phaeochromocytoma.
Robert Kopetschke (2009)
10.1210/jc.2009-1054
6-[F-18]Fluoro-L-dihydroxyphenylalanine positron emission tomography is superior to conventional imaging with (123)I-metaiodobenzylguanidine scintigraphy, computer tomography, and magnetic resonance imaging in localizing tumors causing catecholamine excess.
Helle-Brit Fiebrich (2009)
10.1038/nrendo.2014.188
Paraganglioma and phaeochromocytoma: from genetics to personalized medicine
J. Favier (2015)
10.1001/JAMA.287.11.1427
Biochemical diagnosis of pheochromocytoma: which test is best?
J. Lenders (2002)
10.1007/s00268-005-0373-6
Laparoscopic and Retroperitoneoscopic Treatment of Pheochromocytomas and Retroperitoneal Paragangliomas: Results of 161 Tumors in 126 Patients
M. Walz (2005)
10.1530/EJE-09-0996
Diagnostic accuracy of free and total metanephrines in plasma and fractionated metanephrines in urine of patients with pheochromocytoma.
E. Grouzmann (2010)
10.1016/j.juro.2010.06.102
Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup.
J. Benhammou (2010)
10.1002/path.4503
The genomic landscape of phaeochromocytoma.
A. Flynn (2015)
10.1007/s00423-011-0879-3
Surgical management of organ-contained unilateral pheochromocytoma: comparative outcomes of laparoscopic and conventional open surgical procedures in a large single-institution series
Gaurav Agarwal (2011)
10.1136/heartjnl-2013-304073
Acute catecholamine cardiomyopathy in patients with phaeochromocytoma or functional paraganglioma
A. Giavarini (2013)
10.1111/J.1445-5994.2000.TB04358.X
Phaeochromocytomas discovered during coronial autopsies in Sydney, Melbourne and Auckland.
A. McNeil (2000)
10.1515/cclm-2013-0406
Radioimmunoassay of free plasma metanephrines for the diagnosis of catecholamine-producing tumors
E. Pussard (2014)
10.1677/ERC-10-0211
Catecholamine metabolomic and secretory phenotypes in phaeochromocytoma.
G. Eisenhofer (2011)
10.1111/cen.12745
Diagnosing phaeochromocytoma/paraganglioma in a patient presenting with critical illness: biochemistry versus imaging
L. Amar (2015)
10.1007/s00330-004-2412-3
CT and MR imaging of unusual locations of extra-adrenal paragangliomas (pheochromocytomas)
A. Sahdev (2004)
10.1111/cen.12327
Biochemical diagnosis of phaeochromocytoma using plasma‐free normetanephrine, metanephrine and methoxytyramine: importance of supine sampling under fasting conditions
R. Därr (2014)
10.1055/s-0031-1301339
Long-term postoperative follow-up in patients with apparently benign pheochromocytoma and paraganglioma.
L. Amar (2012)
10.1016/J.ECL.2006.09.014
Emergencies caused by pheochromocytoma, neuroblastoma, or ganglioneuroma.
F. M. Brouwers (2006)
10.1530/EJE-10-0114
Pheochromocytomas detected by biochemical screening in predisposed subjects are associated with lower prevalence of clinical and biochemical manifestations and smaller tumors than pheochromocytomas detected by signs and symptoms.
Nicolette van Duinen (2010)
10.1016/j.urology.2010.03.032
Comparison of two preoperative medical management strategies for laparoscopic resection of pheochromocytoma.
T. Weingarten (2010)
10.1111/j.1365-2796.1994.tb00861.x
Incidence of pheochromocytoma in South Galicia, Spain.
L. Fernández-Calvet (1994)
10.1016/S0009-9120(00)00172-7
A five-year report on experience in the detection of pheochromocytoma.
F. C. Hernández (2000)
10.1007/BF02067379
The role of epinephrine, norepinephrine, and dopamine in blood pressure disturbances in patients with pheochromocytoma
Y. Ito (2005)
10.1158/1078-0432.CCR-14-2751
Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma
Ingo Janssen (2015)
10.1016/j.semcdb.2015.05.011
Models of parent-of-origin tumorigenesis in hereditary paraganglioma.
Attje S. Hoekstra (2015)
10.1016/0026-0495(85)90009-5
Increased dopamine production in patients with carcinoid tumors.
J. Feldman (1985)
10.1677/ERC.1.00838
Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome.
G. Eisenhofer (2004)
10.1210/JC.2004-1398
Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma.
L. Amar (2005)
10.1016/S0002-9610(00)00296-8
Adrenal pheochromocytoma remains a frequently overlooked diagnosis.
C. Lo (2000)
10.1007/s00259-012-2119-7
A comparison of the performance of 68Ga-DOTATATE PET/CT and 123I-MIBG SPECT in the diagnosis and follow-up of phaeochromocytoma and paraganglioma
J. Maurice (2012)
10.1056/NEJMoa1205119
Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.
Z. Zhuang (2012)
10.4158/EP.6.3.249
Pheochromocytoma: clinical observations from a Brooklyn tertiary hospital.
M. Ariton (2000)
10.1097/HJH.0b013e32834a4ce9
Cardiovascular manifestations of phaeochromocytoma
A. Prejbisz (2011)
10.1038/ng.861
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
I. Comino-Méndez (2011)
10.1124/pr.56.3.1
Catecholamine Metabolism: A Contemporary View with Implications for Physiology and Medicine
G. Eisenhofer (2004)
10.1152/ajpendo.90591.2008
Differential expression of the regulated catecholamine secretory pathway in different hereditary forms of pheochromocytoma.
G. Eisenhofer (2008)
10.1016/S0022-5347(17)53807-0
Prevalence of clinically unsuspected pheochromocytoma. Review of a 50-year autopsy series.
M. G. Sutton (1981)
10.1001/archinte.1997.00440290087009
Metyrosine and pheochromocytoma.
J. Steinsapir (1997)
10.1001/archneur.1976.00500040065011
Symptoms of pheochromocytoma, with particular reference to headache, correlated with catecholamine production.
J. Lance (1976)
10.1016/0735-6757(89)90084-3
Pheochromocytoma presenting as shock.
B. Bergland (1989)
10.1007/s00259-012-2215-8
EANM 2012 guidelines for radionuclide imaging of phaeochromocytoma and paraganglioma
D. Taïeb (2012)
10.2967/jnumed.108.058701
Usefulness of 123I-MIBG Scintigraphy in the Evaluation of Patients with Known or Suspected Primary or Metastatic Pheochromocytoma or Paraganglioma: Results from a Prospective Multicenter Trial
G. Wiseman (2009)
10.1530/EJE-15-0483
Life-threatening events in patients with pheochromocytoma.
A. Riester (2015)
10.1002/ajmg.c.30018
Genomic imprinting and environment in hereditary paraganglioma
B. Baysal (2004)
10.1002/ijc.28868
Opposing effects of HIF1α and HIF2α on chromaffin cell phenotypic features and tumor cell proliferation: Insights from MYC‐associated factor X
N. Qin (2014)



Semantic Scholar Logo Some data provided by SemanticScholar