Increased Urinary Excretion of 3-Methoxytyramine in Patients with Head and Neck Paragangliomas

Duinen, Nicolette van; Steenvoorden, Daniëlle; Kema, Ido P.; Jansen, Jeroen C.; Vriends, Annette H. J. T.; Bayley, Jean‐Pierre; Smit, Johannes; Romijn, Johannes A.; Corssmit, Eleonora P M

doi:10.1210/jc.2009-1632

Cited by 102 publications

(68 citation statements)

References 16 publications

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“…They typically have no or only a low production of catecholamines (Erickson et al 2001, van Duinen et al 2010) and commonly present as a slow-growing, painless cellular mass (DeLellis et al 2004). Consequently, many patients are non-symptomatic.…”

Section: Introductionmentioning

confidence: 99%

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

315

321

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Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel susceptibility genes have recently been discovered. The clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background of the tumors. By reviewing more than 1700 reported cases of hereditary PCC and PGL, a thorough summary of the genetics and clinical features of these tumors is given, both as part of the classical syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau disease, neurofibromatosis type 1, and succinate dehydrogenase-related PCC-PGL and within syndromes associated with a smaller fraction of PCCs/PGLs, such as Carney triad, Carney-Stratakis syndrome, and MEN1. The review also covers the most recently discovered susceptibility genes including KIF1Bb, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, and MAX, as well as a comparison with the sporadic form. Further, the latest advances in elucidating the cellular pathways involved in PCC and PGL development are discussed in detail. Finally, an algorithm for genetic testing in patients with PCC and PGL is proposed.

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Section: Introductionmentioning

confidence: 99%

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

315

321

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“…Recent studies have found that approximately 20% of the head and neck paragangliomas also produce significant amounts of catecholamines [6].…”

Section: Discussionmentioning

confidence: 99%

“…The immunohistochemical markers like chromogranin, neuron-specific enolase and S100 are positive in the paragangliomas. MIB1 and p53 have been studied to assess their malignant potential [5,6].…”

Section: Case Historymentioning

confidence: 99%

An Extra-adrenal Pheochromocytoma Presenting as Malignant Hypertension-A Report of two Cases

Kumar

Pande²,

Savita³

et al. 2013

JCDR

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Malignant hypertension is a complication of hypertension characterized by elevated blood pressure (200mm/140mm Hg), is considered a medical emergency and is rarely secondary to paraganglioma. Malignant hypertension is unique in its relationship to a catecholamine secreting paraganglioma. We present two rare cases of malignant hypertension associated with paraganglioma of tonsil and urinary bladder.

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“…Generally HNPGLs are parasympathetic in origin, and symptoms depend on the localization, tumour size, compression of surrounding structures and associated cranial nerve deficits. Between 4 and 30 per cent of HNPGLs secrete catecholamines4 5. HNPGLs can occur spontaneously or as part of a hereditary syndrome.…”

Section: Introductionmentioning

confidence: 99%

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

et al. 2018

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BackgroundGermline mutations in the succinate dehydrogenase B (SDHB) gene predispose to hereditary paraganglioma (PGL) syndrome type 4. The aim of this study was to evaluate the clinical characteristics and outcome of treatment strategies for patients with head and neck paraganglioma (HNPGL) carrying SDHB germline mutations.MethodsThis was a retrospective evaluation of patients with HNPGL carrying SDHB germline mutations in the Netherlands.ResultsIn a Dutch nationwide cohort study of SDHB germline mutation carriers, 54 patients with a total of 62 HNPGLs were identified. Forty‐one of 54 patients (76 per cent) visited the outpatient clinic because of associated complaints. Eight patients (15 per cent) had multiple PGLs. One patient (2 per cent) developed a phaeochromocytoma and three (6 per cent) developed a malignant PGL. Twenty‐seven patients (50 per cent) had an operation for their HNPGL and 15 (28 per cent) received radiotherapy. Three patients with HNPGL (6 per cent) were diagnosed with additional non‐paraganglionic tumours.ConclusionIf an SDHB germline mutation is identified in a patient with HNPGL, the clinician should be aware of the variable manifestations of the SDHB‐linked tumour syndrome, the risk of catecholamine excess, concurrent phaeochromocytoma, and association with non‐paraganglionic tumours.

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Increased Urinary Excretion of 3-Methoxytyramine in Patients with Head and Neck Paragangliomas

Cited by 102 publications

References 16 publications

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

An Extra-adrenal Pheochromocytoma Presenting as Malignant Hypertension-A Report of two Cases

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations

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