Pediatric reference intervals for plasma free and total metanephrines established with a parametric approach: Relevance to the diagnosis of neuroblastoma

Franscini, Laura Crosazzo; Vazquez-Montes, M; Buclin, Thierry; Perera, Rafael; Dunand, Murielle; Grouzmann, Eric; Beck‐Popovic, Maja

doi:10.1002/pbc.25385

Cited by 33 publications

(21 citation statements)

References 25 publications

(35 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Age-specific reference intervals for steroids showing highly significant impacts of age were established by multivariate fractional polynomial analyses [30], [31], [32]. To derive equations for age-specific reference intervals plasma concentrations were first normalized by logarithmic, square root or x 2 transformation, with age transformed in all cases according to the formula below described by Royston and Wright [30].

X_{age} = e^{\frac{log (0.01) ∙ (Age - min (Age))}{((),, max ((),, Age) - min ((),, Age))}}

…”

Section: Methodsmentioning

confidence: 99%

Reference intervals for plasma concentrations of adrenal steroids measured by LC-MS/MS: Impact of gender, age, oral contraceptives, body mass index and blood pressure status

Eisenhofer

Peitzsch

Kaden

et al. 2017

Clinica Chimica Acta

130

View full text Add to dashboard Cite

BackgroundMass spectrometric-based measurements of the steroid metabolome have been introduced to diagnose disorders featuring abnormal steroidogenesis. Defined reference intervals are important for interpreting such data.MethodsLiquid chromatography–tandem mass spectrometry was used to establish reference intervals for 16 steroids (pregnenolone, progesterone, 11-deoxycorticosterone, corticosterone, aldosterone, 18-oxocortisol, 18-hydroxycortisol, 17-hydroxyprogesterone, 21-deoxycortisol, 11-deoxycortisol, cortisol, cortisone, dehydroepiandrosterone, dehydroepiandrosterone-sulfate, androstenedione, testosterone) measured in plasma from 525 volunteers with (n = 227) and without (n = 298) hypertension, including 68 women on oral contraceptives.ResultsWomen showed variable plasma concentrations of several steroids associated with menstrual cycle phase, menopause and oral contraceptive use. Progesterone was higher in females than males, but most other steroids were higher in males than females and almost all declined with advancing age. Using models that corrected for age and gender, body mass index showed weak negative relationships with corticosterone, 21-deoxycortisol, cortisol, cortisone, testosterone, progesterone, 17-hydroxyprogesterone and 11-deoxycorticosterone, but a positive relationship with 18-hydroxycortisol. Hypertensives and normotensives showed negligible differences in plasma concentrations of steroids.ConclusionAge and gender are the most important variables for plasma steroid reference intervals, which have been established here according to those variables for a panel of 16 steroids primarily useful for diagnosis and subtyping of patients with endocrine hypertension.

show abstract

X_{age} = e^{\frac{log (0.01) ∙ (Age - min (Age))}{((),, max ((),, Age) - min ((),, Age))}}

…”

Section: Methodsmentioning

confidence: 99%

Reference intervals for plasma concentrations of adrenal steroids measured by LC-MS/MS: Impact of gender, age, oral contraceptives, body mass index and blood pressure status

Eisenhofer

Peitzsch

Kaden

et al. 2017

Clinica Chimica Acta

130

View full text Add to dashboard Cite

show abstract

“…27). b Reference to pediatric reference intervals for plasma (71,72) and urine (73) metanephrines should be considered. c Ideally, to limit false positive results, PFMs should be collected from an indwelling venous catheter after patient has been lying supine for !30 minutes.…”

Section: Screening/surveillancementioning

confidence: 99%

Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

Rednam

Erez

Druker

et al. 2017

Clinical Cancer Research

217

157

View full text Add to dashboard Cite

Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerable to delayed tumor detection and their sequelae. Although multiple tumor screening paradigms are currently being utilized for patients with vHL, surveillance should be reassessed as the available relevant clinical information continues to expand. We propose a new vHL screening paradigm similar to existing approaches, with important modifications for some tumor types, placing an emphasis on risks in childhood. This includes advancement in the timing of surveillance initiation and increased frequency of screening evaluations. Another neuroendocrine-related familial condition is the rapidly expanding hereditary paraganglioma and pheochromocytoma syndrome (HPP). The tumor spectrum for patients with HPP syndrome includes paragangliomas, pheochromocytomas, renal cancer, and gastrointestinal stromal tumors. The majority of patients with HPP syndrome harbor an underlying variant in one of the SHDx genes (SDHA, SDHB, SDHC, SDHD, SDHA, and SDHAF2), although other genes also have been described (MAX and TMEM127). Annual screening for elevated plasma or urine markers along with complete blood count and biennial whole-body MRI accompanied by focal neck MRI is recommended for older children and adults with HPP syndrome to detect tumors early and to decrease morbidity and mortality from HPP-related tumors.

show abstract

“…27 Changes in nucleic acid tumour marker patterns have also been observed in patients with relapse and treatment. 23 While HVA and HMMA are as sensitive as DA in the detection of untreated neuroblastoma, 6,21,28 our data suggest patients with residual disease may benefit from monitoring with DA and MTY. The limitations of our study include the absence of non-secretory NB disease patients.…”

Section: Discussionmentioning

confidence: 78%

Clinical validation of urine 3-methoxytyramine as a biomarker of neuroblastoma and comparison with other catecholamine-related biomarkers

et al. 2016

View full text Add to dashboard Cite

Background Urinary dopamine, homovanillic acid and 4-hydroxy-3-methoxymandelic acid are established tests for diagnosis and monitoring of neuroblastic disease. We compared the diagnostic performance of total urinary 3-methoxytyramine, the O-methylated product of dopamine, to these three established tumour markers. Methods Urinary 3-methoxytyramine, dopamine, homovanillic acid and 4-hydroxy-3-methoxymandelic acid were measured by high-performance liquid chromatography with electrochemical detection on consecutive urine samples from histologically proven neuroblastic patients and controls. Patients with neuroblastic disease were further classified as untreated, advancing, residual or absent disease based on clinical and radiological criteria. Receiver operating characteristic curve analysis was used to compare the diagnostic performance of the four tumour markers. Results Urinary 3-methoxytyramine was well correlated with established tumour markers and its concentration correlated with disease activity. It was the most commonly elevated tumour marker in neuroblastic disease and showed similar sensitivity to dopamine and homovanillic acid. The diagnostic utility of urinary 3-methoxytyramine as measured by area under the receiver operating characteristic curve was similar to dopamine and homovanillic acid. Conclusion Our results support the use of urinary 3-methoxytyramine as a tumour marker in the diagnosis and the monitoring of neuroblastoma disease.

show abstract

Pediatric reference intervals for plasma free and total metanephrines established with a parametric approach: Relevance to the diagnosis of neuroblastoma

Cited by 33 publications

References 25 publications

Reference intervals for plasma concentrations of adrenal steroids measured by LC-MS/MS: Impact of gender, age, oral contraceptives, body mass index and blood pressure status

Reference intervals for plasma concentrations of adrenal steroids measured by LC-MS/MS: Impact of gender, age, oral contraceptives, body mass index and blood pressure status

Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

Clinical validation of urine 3-methoxytyramine as a biomarker of neuroblastoma and comparison with other catecholamine-related biomarkers

Contact Info

Product

Resources

About