Plasma Normetanephrine and Metanephrine for Detecting Pheochromocytoma in von Hippel–Lindau Disease and Multiple Endocrine Neoplasia Type 2

Eisenhofer, Graeme; Lenders, Jacques W.M.; Linehan, W. Marston; Walther, M; Goldstein, David S.; Keiser, Harry R.

doi:10.1056/nejm199906173402404

Cited by 322 publications

(192 citation statements)

References 26 publications

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“…Measurement of plasma normetanephrine levels is reported to be the most sensitive test for detecting phaeochromocytoma in VHL disease. 70 The MRI screening for RCC can also be used for screening for paraganglial tumours, although screening for phaeochromocytoma should be started earlier than age 16 years in families at high risk of this tumour. Phaeochromocytomas should be removed endoscopically.…”

Section: Screening For Phaeochromocytomamentioning

confidence: 99%

von Hippel–Lindau disease: A clinical and scientific review

Neumann²,

2011

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Section: Screening For Phaeochromocytomamentioning

confidence: 99%

von Hippel–Lindau disease: A clinical and scientific review

Neumann²,

2011

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“…Paroxysmal release of epinephrine with continuous metabolism results in low or undetectable plasma and urinary catecholamines [1,2]. Twenty-fourhour urinary-free catecholamines which are confirmatory for a diagnosis of symptomatic pheochromocytomas cannot be relied upon, and plasma/urine metanephrines are considered the diagnostic marker for clinically silent pheochromocytomas [3].…”

Section: Discussionmentioning

confidence: 99%

“…Family members are screened on the basis of genetic markers and computed tomography of the abdomen for detection of the adrenal mass. Annual determination of plasma-free metanephrines has been recommended as it is the most sensitive marker for the diagnosis of familial pheochromocytomas [2,3]. Our cases, too, were screened by biochemical, radiological, and genetic markers.…”

Section: Discussionmentioning

confidence: 99%

“…Clinically silent pheochromocytomas are usually detected on routine screening of patients in families with autosomal dominant inherited disorders like multiple endocrine neoplasia type 2 (MEN 2), von-Hippel-Lindau disease, and neurofibromatosis type 1 [1][2][3]. Such patients are radiologically and genetically positive but maybe biochemically negative (plasma/urinary metanephrines, vanillylmandelic acid (VMA), and catecholamines) on routine screening.…”

Section: Introductionmentioning

confidence: 99%

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Anesthetic Management of Clinically Silent Familial Pheochromocytoma with MEN 2A: A Report of Four Cases

Talwar

Virmani

et al. 2016

Indian J Surg

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Familial pheochromocytomas are commonly associated with multiple endocrine neoplasia type 2 (MEN 2) syndrome. Majority of the patients present with normal clinical and biochemical parameters in the preoperative period, the incidence of hypertension being only 50 %. Even though patients may be clinically asymptomatic, surveillance and proper preoperative evaluation is important, as surgery for associated tumors may precipitate a hypertensive crisis and result in severe complications. A family of 19 members, of which 12 were positive for MEN 2A syndrome, presented to our hospital. Seven of the 12 patients had pheochromocytoma and medullary thyroid carcinoma (MTC), while the other 5 had only raised plasma calcitonin levels. Two of the 7 patients presented with bilateral pheochromocytoma and underwent an open adrenalectomy. The other 5 patients had a left-sided adrenal tumor and underwent left laparoscopic adrenalectomy under combined general and epidural anesthesia. We present our experience with four of these five cases. We here state that how paucity of literature on perioperative preparation of clinically and biochemically silent pheochromocytomas led to serious intraoperative complications in one of four cases.

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“…Since then, assays of pNMA and pMA have indeed clearly demonstrated a great potential for the diagnosis of phaeochromocytomas and paragangliomas (10,11,12,13,14,15,16,17,18). We present the set-up of these assays in 2005, their analytical performances and the main consequences of their routine use in our laboratory.…”

Section: Introductionmentioning

confidence: 99%

Phasing-in plasma metanephrines determination

Brossaud¹,

Gosse²,

Gatta³

et al. 2013

European Journal of Endocrinology

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Objectives: We set up plasma normetanephrine (pNMA) and metanephrine (pMA) assays as they demonstrated their usefulness for diagnosing phaeochromocytomas. Our scope is to describe some practical laboratory aspects and the clinical relevance of these assays in our endocrinological or cardiological departments. Methods: We retrospectively reviewed the results of MA from a population of in-and outpatients over a 7-year period. Subjects (nZ2536) from endocrinological or cardiological departments were investigated (66 phaeochromocytomas). Urinary NMA (uNMA) and pNMA, and urinary MA (uMA) and pMA were assayed by HPLC with electrochemical detection. Results: pNMA and pMA assays are now more frequently requested than uNMA and uMA. This changed our laboratory work load with improved delivery, sensitivity and reliability of plasma assays as well as reduced apparatus maintenance time. The pNMA and pMA upper reference limits (URLs) of subjects with no phaeochromocytoma were 1040 and 430 pmol/l respectively. Sensitivity and specificity based on receiver operating characteristic curves optimal points were 83 and 93% for pNMA at 972 pmol/l and 67 and 98% for pMA at 638 pmol/l. Sensitivity and specificity of paired tests of pMA (positive test: at least one analyte above its URLs) were 100 and 91% respectively. Conclusion: The very low concentration of analytes requires a sustained very good apparatus analytical sensitivity. This can be obtained in an up-to-date laboratory. In terms of clinical performances, assays in plasma or urine are equivalent. Depending on local preferences, populations, strategies or departments, requests for one or the other assay may sustain the need for specifically defined reference ranges.

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Plasma Normetanephrine and Metanephrine for Detecting Pheochromocytoma in von Hippel–Lindau Disease and Multiple Endocrine Neoplasia Type 2

Abstract: Measurements of plasma normetanephrine and metanephrine are useful in screening for pheochromocytomas in patients with a familial predisposition to these tumors.

Cited by 322 publications

References 26 publications

von Hippel–Lindau disease: A clinical and scientific review

von Hippel–Lindau disease: A clinical and scientific review

Anesthetic Management of Clinically Silent Familial Pheochromocytoma with MEN 2A: A Report of Four Cases

Phasing-in plasma metanephrines determination

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