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Cureus Jul 2022Pheochromocytomas and paragangliomas are rare neuroendocrine tumors developed from chromaffin cells. They are exceptional in children with an atypical symptomatology. We...
Pheochromocytomas and paragangliomas are rare neuroendocrine tumors developed from chromaffin cells. They are exceptional in children with an atypical symptomatology. We report here a case of a 17-year-old boy who presented with a left retroperitoneal mass discovered on thoracic-abdominal-pelvic computed tomography (CT) scan in the presence of diffuse abdominal pain, more pronounced in the left hypochondrium. The exploration had objectified an exclusive secretion of urinary normetanephrine over 24 hours. Metanephrine and 3 ortho methyldopamine were within normal limits. He had adrenalectomy after controlling his blood pressure with an alpha blocker. Histology had confirmed a pheochromocytoma of non-aggressive potential of the Adrenal gland Scaled (PASS) 2. The evolution was favorable with normalization of blood pressure and urinary catecholamines at one week, three months, six months, and one year. He tested negative for hereditary syndromic including Von Hippel-Lindau (VHL), RET genes, subject to the succinate dehydrogenase complex B and D subunit genes (SDHB-D), which have been requested.
PubMed: 36060320
DOI: 10.7759/cureus.27492 -
Clinical Endocrinology Jan 2023Cystic adrenal mass is a rare imaging presentation of pheochromocytoma. We aimed to describe the clinical, biochemical and imaging characteristics of patients with...
OBJECTIVE
Cystic adrenal mass is a rare imaging presentation of pheochromocytoma. We aimed to describe the clinical, biochemical and imaging characteristics of patients with cystic pheochromocytoma.
DESIGN
Single-centre, retrospective study, 2000-2020.
PATIENTS
Consecutive patients with cystic pheochromocytoma were identified from our institutional pathology and adrenal tumour database.
RESULTS
Of the 638 patients with pheochromocytomas, 21 (3.2%) had cystic pheochromocytomas (median age: 57 years, 57% women). Most pheochromocytomas were discovered incidentally (57%) or due to symptoms of catecholamine excess (24%). The median tumour size was 6.4 cm. On imaging, cystic pheochromocytomas were round or oval (90%), heterogeneous lesions (86%) with a thick solid rim (median rim thickness 13.9 mm, unenhanced computed tomography (CT) attenuation 40 Hounsfield units (HU), venous-phase CT attenuation 83 HU), and a median cystic component of 40% (unenhanced CT attenuation 17.6 HU, venous-phase CT attenuation 20.4 HU), and rarely with calcifications (15%). All 20 patients with biochemical testing had functioning tumours (adrenergic in 80%, noradrenergic in 20%). Total urinary metanephrine excretion correlated with the volume of the solid component (R = .75, p < .0001) but not the cystic component (R = .04, p = .4386). All patients underwent adrenalectomy (48% laparoscopic, 52% open), and the median duration of hospital stay was 4 days.
CONCLUSIONS
Cystic pheochromocytomas are rare, large tumours with a phenotypic appearance that can masquerade as other adrenal cystic lesions. The degree of biochemical abnormality in cystic pheochromocytomas is associated with the volume of the solid component. All patients with adrenal cysts that have a solid component or an unenhanced attenuation >10 HU should undergo biochemical testing for pheochromocytoma.
Topics: Humans; Female; Middle Aged; Male; Retrospective Studies; Adrenal Gland Neoplasms
PubMed: 35445428
DOI: 10.1111/cen.14743 -
The Clinical Biochemist. Reviews Nov 2013The era of sophisticated high resolution imaging with the consequent identification of previously unrecognised adrenal masses (adrenal incidentalomas), has emphasised... (Review)
Review
The era of sophisticated high resolution imaging with the consequent identification of previously unrecognised adrenal masses (adrenal incidentalomas), has emphasised the need for an appropriate biochemical approach to define adrenal function. The focus of this testing is on catecholamines from the adrenal medulla (testing that has been rendered relatively straightforward by plasma metanephrine measurements) and the physiological corticosteroids, cortisol and aldosterone, synthesised by the adrenal cortex. The diagnosis of hypercortisolism remains a challenge and has been extensively reviewed. In the context of hypertension and an adrenal incidentaloma, the exclusion of hyperaldosteronism has an importance beyond simple blood pressure control. This review focuses on the recommended approaches to both the diagnosis of hyperaldosteronism and the characterisation of its aetiology. Monogenetic causes of mineralocorticoid hypertension are discussed as are recent developments with respect to both the molecular aetiology and the differential diagnosis of aldosterone-producing adenomas.
PubMed: 24353356
DOI: No ID Found -
European Journal of Case Reports in... 2022A 22-year-old woman presented with a 12-year history of intensifying paroxysms of anxiety, palpitations and recurrent syncope following micturition. The patient was...
UNLABELLED
A 22-year-old woman presented with a 12-year history of intensifying paroxysms of anxiety, palpitations and recurrent syncope following micturition. The patient was referred to endocrinology upon discovery of hypertension. An extended family history revealed metastatic phaeochromocytoma and paraganglioma in two grand-uncles. Clinical examination revealed hypertension, with a mean 24-hour ambulatory blood pressure of 150/100 mmHg. Supine plasma normetanephrines were markedly elevated with a raised 3-methoxytyramine, while plasma metanephrines were normal. Computed tomography identified a 4.4 cm mass at the right inferolateral margin of the bladder wall. Scintigraphic imaging confirmed unifocal bladder lesion uptake with no additional metastatic lesions. Following pre-operative alpha blockade, the patient underwent a partial cystectomy. Histology confirmed a paraganglioma, and SDHB staining was lost in neoplastic cells consistent with an SDHB-related paraganglioma. Plasma normetanephrine, 3-methoxytyramine and blood pressure returned to normal postoperatively. Genetic screening identified a germline heterozygous SDHB gene variant c.723C>G. Bladder paragangliomas are a rare but important differential to consider when investigating post-micturition syncope. An extended family history should be sought and suspicion for a genetic cause should be raised, especially when the condition presents at a young age. This is the first reported case describing phaeochromocytoma or paraganglioma with the SDHB gene variant c.723C>G.
LEARNING POINTS
Bladder paragangliomas are a rare neuroendocrine tumour which should be considered when assessing patients with haematuria and hypertension, headache, palpitations, sweating and facial pallor with micturition.This case highlights the importance of a thorough clinical history with an extended family history and examination in the setting of micturition syncope, which can rarely occur with bladder paraganglioma.Young age at presentation, a family history of phaeochromocytoma and paraganglioma (PPGL), unusual paraganglioma location, mutifocality and aggressive disease should raise the suspicion for a genetic predisposition to PPGL.
PubMed: 36299853
DOI: 10.12890/2022_003537 -
Frontiers in Endocrinology 2022The selectivity index (SI) of cortisol is used to document correct catheter placement during adrenal vein sampling (AVS) in patients with primary aldosteronism (PA). We...
BACKGROUND
The selectivity index (SI) of cortisol is used to document correct catheter placement during adrenal vein sampling (AVS) in patients with primary aldosteronism (PA). We aimed to determine the cutoff values of the SIs based on cortisol, free metanephrine, and the free-to-total metanephrine ratio (FTMR) using an adapted AVS protocol in combination with CT.
METHODS
Adults with PA and referred for AVS were recruited in two hypertension centers. The cortisol and free metanephrine-derived SIs were calculated as the concentration of the analyte in adrenal veins divided by the concentration of the analyte in the distal vena cava. The FTMR-derived SI was calculated as the concentration of free metanephrine in the adrenal vein divided by that of total metanephrine in the ipsilateral adrenal vein. The AVS was classified as an unequivocal radiological success (uAVS) if the tip of the catheter was seen in the adrenal vein. The SI cutoffs of each index marker were established using receiver operating characteristic curve analysis.
RESULTS
Out of 125 enrolled patients, 65 patients had an uAVS. The SI cutoffs were 2.6 for cortisol, 10.0 for free metanephrine, 0.31 for the FTMR on the left side, and 2.5, 9.9, and 0.25 on the right side. Compared to free metanephrine and the FTMR, cortisol misclassified AVS as unsuccessful in 36.6% and 39.0% of the cases, respectively.
CONCLUSION
This study is the first to calculate the SIs of cortisol, free metanephrine, and the FTMR indices for the AVS procedure. It confirms that free metanephrine-based SIs are better than those based on cortisol.
Topics: Adrenal Glands; Adult; Aldosterone; Catheters; Humans; Hydrocortisone; Hyperaldosteronism; Metanephrine
PubMed: 35282466
DOI: 10.3389/fendo.2022.842968 -
Frontiers in Endocrinology 2023Resection of pheochromocytoma and paraganglioma (PPGL) carries risks with perioperative hemodynamic instability. Phenoxybenzamine (PXB) is a commonly used α-blockade to...
Influence of duration of preoperative treatment with phenoxybenzamine and secretory phenotypes on perioperative hemodynamics and postoperative outcomes in pheochromocytoma and paraganglioma.
OBJECTIVES
Resection of pheochromocytoma and paraganglioma (PPGL) carries risks with perioperative hemodynamic instability. Phenoxybenzamine (PXB) is a commonly used α-blockade to prevent it. It is unclear whether lengthening the preoperative duration of PXB is better for hemodynamic stability and postoperative outcomes. Furthermore, different types of catecholamines have varying effects on perioperative hemodynamics. Thus, our study aimed to investigate the impact of the duration of preoperative preparation with PXB and secretory phenotypes of the patients on intraoperative hemodynamic stability and postoperative complications in PPGL.
METHODS
Between Dec 2014 and Jan 2022, 166 patients with PPGL were operated on by the same team at Sun Yat-sen Memorial Hospital. They were divided into group A(1-14d), Group B(15-21d), and Group C(>21d) based on the duration of management with PXB and into the adrenergic and the noradrenergic phenotype group based on secretory profiles. Data on intraoperative hemodynamics and postoperative outcomes were collected and compared among groups.
RESULTS
A total of 96 patients occurred intraoperative hemodynamic instability, and 24 patients had 29 postoperative complications related to the surgery. Among the 145 patients treated with PXB, no significant differences were found in the cumulative time outside the target blood pressure(6.67%[0-17.16%] 5.97%[0-23.08%] 1.22%[0-17.27%], =0.736) or in the median total HI-score(42.00[30.00-91.00] 89.00[30.00-113.00] 49.00[30.00-93.00], =0.150) among group A(n=45), B(n=51) and C(n=49). Multivariate analysis demonstrated that the level of plasma-free metanephrine(MN) was an independent risk factor for intraoperative hemodynamic instability. And the median cumulative time outside of the target blood pressure in the adrenergic phenotype group was significantly greater than that in the noradrenergic phenotype group(8.17%[0-26.22%] 1.86%[0-11.74%], =0.029). However, the median total HI-score(99.50[85.00-113.25] 90.00[78.00-105.00], =0.570) and postoperative outcomes showed no differences between the two groups.
CONCLUSIONS
A preoperative duration of nearly 14 days with PXB is sufficient for ensuring intraoperative hemodynamic stability in PPGL. And lengthening the preparation duration may not provide additional benefits in the era of widespread application and advanced techniques of laparoscopic surgery. Additionally, patients with the adrenergic phenotype are more prone to intraoperative hemodynamic instability than the noradrenergic phenotype. Thus, more attention should be given to the adrenergic phenotype during surgery.
Topics: Humans; Phenoxybenzamine; Pheochromocytoma; Paraganglioma; Hemodynamics; Metanephrine; Postoperative Complications; Norepinephrine; Adrenal Gland Neoplasms; Adrenergic Agents
PubMed: 37152936
DOI: 10.3389/fendo.2023.1139015 -
Diagnostics (Basel, Switzerland) Sep 2023Phaeochromocytomas (PC) and sympathetic paragangliomas (PGL) are potentially malignant tumours arising from the adrenal medulla (PC) or elsewhere in the sympathetic... (Review)
Review
Phaeochromocytomas (PC) and sympathetic paragangliomas (PGL) are potentially malignant tumours arising from the adrenal medulla (PC) or elsewhere in the sympathetic nervous system (PGL). These tumours usually secrete catecholamines and are associated with significant morbidity and mortality, so accurate and timely diagnosis is essential. The initial diagnosis of phaeochromocytoma/paraganglioma (PPGL) is often dependent on biochemical testing. There is a range of pre-analytical, analytical and post-analytical factors influencing the analytical and diagnostic performance of biochemical tests for PPGL. Pre-analytical factors include patient preparation, sample handling and choice of test. Analytical factors include choice of methodology and the potential for analytical interference from medications and other compounds. Important factors in the post-analytical phase include provision of appropriate reference ranges, an understanding of the potential effects of various medications on metanephrine concentrations in urine and plasma and a consideration of PPGL prevalence in the patient population being tested. This article reviews these pre-analytical, analytical and post-analytical factors that must be understood in order to provide effective laboratory services for biochemical testing in the diagnosis of PPGL.
PubMed: 37761307
DOI: 10.3390/diagnostics13182940 -
Journal of Chromatography. B,... Nov 2018Biogenic monoamines, including catecholamines and serotonin are important hormones and neurotransmitters. Abnormal urinary levels of biogenic monoamines and their...
Biogenic monoamines, including catecholamines and serotonin are important hormones and neurotransmitters. Abnormal urinary levels of biogenic monoamines and their metabolites are associated with smoking, neuroendocrine tumors, as well as neurological and cardiovascular diseases. Measurements of free biogenic monoamines and their metabolites have been challenging because of low concentrations in complex biological matrices. Current methods require extensive enrichment and removal of interfering substances and can analyze only basic or acidic compounds in a single run. We developed a simple and robust dilute-and-shoot method capable of measuring 10 analytes, including free biogenic monoamines and their metabolites in human urine. The assay enables sensitive measurements of analytes within expected sample concentration ranges. To assess the assay's efficacy, we measured urinary levels of free biogenic monoamines and their metabolites in 255 non-smokers and 191 smokers. Our data show that while smokers had significantly higher urinary levels of free catecholamines and metanephrines, there was a decrease in levels of biogenic amine metabolites synthesized through the monoamine oxidase pathway - homovanillic acid and vanillylmandelic acid. The method could be used for high throughput measurement of the range of free biogenic amines and their metabolites in urine under a variety of different conditions.
Topics: Adult; Biogenic Monoamines; Chromatography, High Pressure Liquid; Female; Humans; Limit of Detection; Linear Models; Male; Middle Aged; Reproducibility of Results; Tandem Mass Spectrometry
PubMed: 30248561
DOI: 10.1016/j.jchromb.2018.09.012 -
Cureus May 2020Pheochromocytomas (PHEO) and paragangliomas (PGL) are rare tumors originated in cells derived from the neural crest. The first ones are located in the adrenal medulla,... (Review)
Review
Pheochromocytomas (PHEO) and paragangliomas (PGL) are rare tumors originated in cells derived from the neural crest. The first ones are located in the adrenal medulla, and the second ones in the sympathetic and parasympathetic nervous system. These kind of tumors may secrete excess catecholamines, including epinephrine, norepinephrine, dopamine and/or their metabolite metanephrine, normetanephrine and 3-methoxytyramine, respectively. Its clinical manifestations depend on the location, the secretory profile and the malignant potential of the tumor. These tumors are frequently benign in their presentation. Some arise in the context of familiar syndromes, accounting for up to one-third of the total of diagnosis. The metastatic form is the most common presentation of the tumors with familiar origin and due to their rarity, their diagnosis and management is often difficult. Over the years, our knowledge and perception of PHEO and PGL has greatly expanded and changed. This review article aims to focus on the genetic, clinical, diagnostic, therapeutic and prognostic approaches, to give the clinician knowledge of the most recent updates regarding these themes.
PubMed: 32523826
DOI: 10.7759/cureus.7969 -
Advances in Laboratory Medicine Apr 2023The incidence of congenital neuroblastoma has increased in the recent years. The purpose of this study was to describe the clinical and biochemical characteristics of...
OBJECTIVES
The incidence of congenital neuroblastoma has increased in the recent years. The purpose of this study was to describe the clinical and biochemical characteristics of cases of congenital neuroblastoma diagnosed in our center.
CASE PRESENTATION
We report three cases of congenital neuroblastoma diagnosed in our hospital. In two, diagnosis was made prenatally, whereas the other case was detected in the immediate neonatal period. In the three cases, neuroblastoma was located in the abdominal region and exhibited elevated concentrations of catecholamines or their metabolites in single voided urine samples. Two tumors were classified as stage M, and one as stage L2. The oncogen was not amplified in any of the cases studied. Histopathological analysis was favorable in the three cases. The tumor was resected in two patients. The three received chemotherapy.
CONCLUSIONS
The measurement of catecholamines and their metabolites is essential in the diagnosis of neuroblastoma. When 24 h urine cannot be collected, single voided urine can be used to calculate the index based on creatinine concentrations.
PubMed: 37359903
DOI: 10.1515/almed-2022-0112