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Gland Surgery Feb 2020Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that secrete excess catecholamines leading to secondary hypertension and cardiovascular... (Review)
Review
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that secrete excess catecholamines leading to secondary hypertension and cardiovascular morbidity. Once biochemical testing with either 24-hour urinary fractioned metanephrines or plasma free metanephrines confirms the diagnosis, patients are optimized with adequate hydration to maintain their intravascular volume and the appropriate antihypertensive medications are initiated for optimal blood pressure control. Genetic testing and imaging is performed to determine the extent of adrenalectomy and the optimal surgical approach. Surgical approaches include transabdominal or retroperitoneal minimally invasive approaches, and transabdominal open approaches. Factors that influence the surgical approach include germline genetic test results, the size of the tumor, body mass index, surgeon experience, and the likelihood of malignancy. The extent of adrenalectomy is based on germline genetic findings. Patients with syndromes such as von Hippel Lindau (VHL) or multiple endocrine neoplasia 2 (MEN 2) benefit from cortical-sparing adrenalectomy to avoid chronic steroid replacement and the risk of Addisonian crisis. Postoperative management includes hemodynamic monitoring and assessment for signs of hypoglycemia. Outcomes after surgery show improved blood pressure control in most patients and normalization of blood pressure in about a third of patients. Long-term follow-up is required for all patients to assess for recurrence.
PubMed: 32206597
DOI: 10.21037/gs.2019.10.20 -
Endokrynologia Polska 2017Adrenal incidentaloma (AI) includes all lesions with diameter ≥ 1 cm found incidentally during imaging examinations not associated with suspected adrenal pathology.... (Review)
Review
Adrenal incidentaloma (AI) includes all lesions with diameter ≥ 1 cm found incidentally during imaging examinations not associated with suspected adrenal pathology. Every adrenal incidentaloma requires a detailed hormonal and imaging assessment. Initial diagnosis includes radiological phenotypical evaluation (particularly in CT, or in case of contraindications - in MRI) and biochemical assessment of tumour hormonal activity (which includes cortisol circadian rhythm, salivary cortisol concentration, 24-hour urinary free-cortisol and metanephrines test, short cortisol and dexamethasone suppression test, ACTH level assessment, aldosterone and ARO concentration, adrenal androgen concentration). Each diagnostic step is associated with limitations and method imperfections. The influence of administered medications, age and concomitant diseases must be taken into account when interpreting test results. It is important to remember abovementioned factors may cause false positive or false negative test results. The following paper is to summarize the etiology of the most common diagnostic mishaps which frequently lead to misdiagnoses, an increase in patient's anxiety and, as a consequence, in the introduction of improper therapy or its discontinuation. The awareness of biochemical and imaging test limitations, and the knowledge of false positive and false negative result sources, allows for the optimisation of the diagnostic process. Simultaneously, the analyzed factors may contribute to a decrease in unnecessary and frequently repeated tests. Additionally, it may imply avoiding the costs of unjustified deep diagnostics.
Topics: Adrenal Gland Neoplasms; Adrenocorticotropic Hormone; Aldosterone; False Positive Reactions; Female; Humans; Male; Practice Guidelines as Topic
PubMed: 28660993
DOI: 10.5603/EP.2017.0028 -
Clinical and Experimental Hypertension... Dec 2023Pheochromocytoma is a rare tumor frequently overlooked mainly due to the wide range of its clinical presentation, which may vary from entirely untypical signs and... (Review)
Review
BACKGROUND
Pheochromocytoma is a rare tumor frequently overlooked mainly due to the wide range of its clinical presentation, which may vary from entirely untypical signs and symptoms to life-threatening complications.
METHODS
The present study aims to present a case series recently treated in our center, with emphasis placed on patients' specific characteristics, clinical presentation and diagnostic evaluation. Relevant literature and current guidelines are being briefly reviewed to summarize screening for pheochromocytoma and appropriate diagnostic procedures.
RESULTS
While the classic symptoms include headache, palpitations and sweating with permanent or paroxysmal hypertension, a wide range of clinical manifestations may be attributed to pheochromocytoma. The initial screening test is measurement of plasma or 24-hour urine metanephrine levels. Abdominal computerized tomography with intravenous contrast infusion is suggested as the imaging examination of choice, whereas magnetic resonance imaging should be preferred over CT in exceptional cases. 123I-metaiodobenzylguanidine scintigraphy is particularly useful for establishing the diagnosis of pheochromocytoma and should be further applied to detect or exclude possible metastatic lesions.
CONCLUSION
Early diagnosis of pheochromocytoma is of great significance not only because it represents a curable form of secondary hypertension, but also because it is often related to familial syndromes, malignancy or metastatic disease. Physicians need to be familiar with relevant clinical manifestations and diagnostic steps to raise clinical suspiction of pheochromocytoma and establish a timely diagnosis.
Topics: Humans; Pheochromocytoma; Adrenal Gland Neoplasms; Hypertension; Tomography, X-Ray Computed; 3-Iodobenzylguanidine
PubMed: 36218060
DOI: 10.1080/10641963.2022.2132012 -
The Journal of Clinical Endocrinology... Feb 2022Most patients with adrenal incidentaloma have nonfunctional lesions that do not require treatment, while others have functional or malignant tumors that require... (Observational Study)
Observational Study
CONTEXT
Most patients with adrenal incidentaloma have nonfunctional lesions that do not require treatment, while others have functional or malignant tumors that require intervention. The plasma steroid metabolome may be useful to assess therapeutic need.
OBJECTIVE
This work aimed to establish the utility of plasma steroid profiling combined with metanephrines and adrenal tumor size for the differential diagnosis of patients with adrenal incidentaloma.
METHODS
This retrospective cross-sectional study, which took place at 7 European tertiary-care centers, comprised 577 patients with adrenal incidentaloma, including 19, 77, 65, 104 and 312 respective patients with adrenocortical carcinoma (ACC), pheochromocytoma (PHEO), primary aldosteronism (PA), autonomous cortisol secretion (ACS), and nonfunctional adrenal incidentaloma (NFAI). Mesaures of diagnostic performance were assessed (with [95% CIs]) for discriminating different subgroups of patients with adrenal incidentaloma.
RESULTS
Patients with ACC were characterized by elevated plasma concentrations of 11-deoxycortisol, 11-deoxycorticosterone, 17-hydroxyprogesterone, androstenedione, and dehydroepiandrosterone-sulfate, whereas patients with PA had elevations of aldosterone, 18-oxocortisol, and 18-hydroxycortisol. A selection of those 8 steroids, combined with 3 others (cortisol, corticosterone, and dehydroepiandrosterone) and plasma metanephrines, proved optimal for identifying patients with ACC, PA, and PHEO at respective sensitivities of 83.3% (66.1%-100%), 90.8% (83.7%-97.8%), and 94.8% (89.8%-99.8%); and specificities of 98.0% (96.9%-99.2%), 92.0% (89.6%-94.3%), and 98.6% (97.6%-99.6%). With the addition of tumor size, discrimination improved further, particularly for ACC (100% [100%-100%] sensitivity, 99.5% [98.9%-100%] specificity). In contrast, discrimination of ACS and NFAI remained suboptimal (70%-71% sensitivity, 89%-90% specificity).
CONCLUSION
Among patients with adrenal incidentaloma, the combination of plasma steroid metabolomics with routinely available plasma free metanephrines and data from imaging studies may facilitate the identification of almost all clinically relevant adrenal tumors.
Topics: Adrenal Gland Neoplasms; Adrenal Glands; Adrenocortical Carcinoma; Adult; Aged; Cross-Sectional Studies; Diagnosis, Differential; Female; Humans; Hyperaldosteronism; Male; Metanephrine; Middle Aged; Pheochromocytoma; Retrospective Studies; Steroids; Tumor Burden
PubMed: 34665854
DOI: 10.1210/clinem/dgab751 -
Annales de Biologie Clinique Dec 2016Neuroendocrine tumors (NET) are rare heterogenous tumors which prevalence is increasing. Their features vary by anatomical location, functionality and hormonal... (Review)
Review
Neuroendocrine tumors (NET) are rare heterogenous tumors which prevalence is increasing. Their features vary by anatomical location, functionality and hormonal production. Their management needs a multidisciplinary approach. Functional tumors develop characteristic clinical syndromes in contrast to non-functional tumors that are diagnosed fortuitously or at advanced stage. NET can secrete many specific and general biomarkers. CgA is the most sensitive general marker. Its value should be interpreted along with the renal function and the gastrin level. Some new biomarkers such as NTproBNP, proGRP and NET gene transcripts have been identified. The latter are not yet routine in clinical practice. We present In this review biological biomarkers involved in NET with a focus on the assays and their use in clinical practice.
Topics: Biomarkers, Tumor; Diagnosis, Differential; Diagnostic Techniques, Endocrine; Humans; Insulinoma; Neuroendocrine Tumors; Pancreatic Neoplasms; Paraneoplastic Endocrine Syndromes; Reference Standards
PubMed: 27758762
DOI: 10.1684/abc.2016.1188 -
Brazilian Journal of Medical and... Oct 2000Incidentally discovered adrenal masses, or adrenal incidentalomas, have become a common clinical problem owing to wide application of radiologic imaging techniques. This... (Review)
Review
Incidentally discovered adrenal masses, or adrenal incidentalomas, have become a common clinical problem owing to wide application of radiologic imaging techniques. This definition encompasses a heterogeneous spectrum of pathologic entities, including primary adrenocortical and medullary tumors, benign or malignant lesions, hormonally active or inactive lesions, metastases, and infections. Once an adrenal mass is detected, the clinician needs to address two crucial questions: is the mass malignant, and is it hormonally active? This article provides an overview of the diagnostic clinical approach and management of the adrenal incidentaloma. Mass size is the most reliable variable to distinguish benign and malignant adrenal masses. Adrenalectomy should be recommended for masses greater than 4.0 cm because of the increased risk of malignancy. Adrenal scintigraphy has proved useful in discriminating between benign and malignant lesions. Finally, fine-needle aspiration biopsy is an important tool in the evaluation of oncological patients and it may be useful in establishing the presence of metastatic disease. The majority of adrenal incidentalomas are non-hypersecretory cortical adenomas but an endocrine evaluation can lead to the identification of a significant number of cases with subclinical Cushing's syndrome (5-15%), pheochromocytoma (1.5-13%) and aldosteronoma (0-7%). The first step of hormonal screening should include an overnight low dose dexamethasone suppression test, the measure of urinary catecholamines or metanephrines, serum potassium and, in hypertensive patients, upright plasma aldosterone/plasma renin activity ratio. Dehydroepiandrosterone sulfate measurement may show evidence of adrenal androgen excess.
Topics: Adenoma; Adrenal Gland Neoplasms; Cushing Syndrome; Diagnosis, Differential; Female; Humans; Hyperaldosteronism; Incidence; Male; Pheochromocytoma
PubMed: 11004718
DOI: 10.1590/s0100-879x2000001000007 -
Chirurgie (Heidelberg, Germany) Mar 2024Pheochromocytoma is a rare but severe disease of the adrenal glands. The aim of this study is to present and discuss recent developments in the diagnosis and treatment... (Review)
Review
BACKGROUND
Pheochromocytoma is a rare but severe disease of the adrenal glands. The aim of this study is to present and discuss recent developments in the diagnosis and treatment of pheochromocytoma.
MATERIAL AND METHODS
A narrative review article based on the most recent literature is presented.
RESULTS AND DISCUSSION
The proportion of pheochromocytomas as tumors of adrenal origin is about 5% of incidentally discovered adrenal tumors. The classical symptomatic triad of headaches, sweating, and palpitations occurs in only about 20% of patients, while almost all patients show at least 1 of these symptoms. To diagnose pheochromocytoma, levels of free plasma metanephrines or alternatively, fractionated metanephrines in a 24‑h urine collection is required in a first step. In the second step an imaging procedure, computed tomography (CT) or magnetic resonance imaging (MRI), is performed to localize the adrenal tumor. Functional imaging is also recommended to preoperatively detect potential metastases. Genetic testing should always be offered during the course of treatment as 30-40% of pheochromocytomas are associated with genetic mutations. The dogma of preoperative alpha blockade is increasingly being questioned and has been controversially discussed in recent years. Minimally invasive removal of the adrenal tumor is the standard surgical procedure to cure patients with pheochromocytoma. The transabdominal and retroperitoneal laparoscopic approaches are considered equivalent. The choice of the minimally invasive procedure depends on the expertise and experience of the surgeon and should be tailored accordingly. Individualized and regular follow-up care is important after surgery.
Topics: Humans; Pheochromocytoma; Precision Medicine; Adrenal Gland Neoplasms; Adrenal Glands; Metanephrine
PubMed: 37957403
DOI: 10.1007/s00104-023-01988-6 -
Clinica Chimica Acta; International... Mar 2019Plasma or urinary metanephrines are recommended for screening of pheochromocytomas and paragangliomas (PPGLs). Measurements of urinary free rather than deconjugated...
BACKGROUND
Plasma or urinary metanephrines are recommended for screening of pheochromocytomas and paragangliomas (PPGLs). Measurements of urinary free rather than deconjugated metanephrines and additional measurements of methoxytyramine represent other developments. For all measurements there is need for reference intervals.
METHODS
Plasma free, urinary free and urinary deconjugated O-methylated catecholamine metabolites were measured by LC-MS/MS in specimens from 590 hypertensives and normotensives. Reference intervals were optimized using data from 2,056 patients tested for PPGLs.
RESULTS
Multivariate analyses, correcting for age and body surface area, indicated higher plasma and urinary metanephrine in males than females and sex differences in urinary normetanephrine and free methoxytyramine that largely reflected body size variation. There were positive associations of age with plasma metabolites, but negative relationships with urinary free metanephrine and methoxytyramine. Plasma and urinary normetanephrine were higher in hypertensives than normotensives, but differences were small. Optimization of reference intervals using the data from patients tested for PPGLs indicated that age was the most important consideration for plasma normetanephrine and sex most practical for urinary metabolites.
CONCLUSION
This study clarifies impacts of demographic and anthropometric variables on catecholamine metabolites, verifies use of age-specific reference intervals for plasma normetanephrine and establishes sex-specific reference intervals for urinary metabolites.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Blood Chemical Analysis; Chromatography, Liquid; Dopamine; False Positive Reactions; Female; Humans; Hydrolysis; Male; Metanephrine; Middle Aged; Normetanephrine; Reference Values; Sex Characteristics; Tandem Mass Spectrometry; Young Adult
PubMed: 30571948
DOI: 10.1016/j.cca.2018.12.019 -
Acta Medica Okayama Jun 2021The management of blood pressure is a significant concern for surgeons and anesthesiologists performing adrenalectomy for pheochromocytoma. We evaluated clinical factors...
The management of blood pressure is a significant concern for surgeons and anesthesiologists performing adrenalectomy for pheochromocytoma. We evaluated clinical factors in pheochromocytoma patients to identify the predictors of postoperative hypotension. The medical records of patients who underwent adrenalectomy for pheochromocytoma between 2001 and 2017 were retrospectively reviewed and clinical and biochemical data were evaluated. Of 29 patients, 13 patients needed catecholamine support in the perisurgical period while 16 patients did not. There were significant differences in median age, tumor size, and blood pressure drop (maxmin) between the 2 groups (68 vs 53 years old, p=0.045; 50 vs 32 mm diameter, p=0.022; 110 vs 71 mmHg, p=0.015 respectively). In univariate logistic analysis, age > 65.5 years, tumor size > 34.5 mm, urine metanephrine > 0.205 mg/day and urine normetanephrine > 0.665 mg/day were significant predictors of prolonged hypotension requiring postoperative catecholamine support. Tumor size and urine metanephrine and urine normetanephrine levels were correlated with postoperative hypotension. These predictors may help in the safe perioperative management of pheochromocytoma patients treated with adrenalectomy.
Topics: Adrenal Gland Neoplasms; Adrenalectomy; Adult; Aged; Biomarkers; Humans; Hypotension; Japan; Metanephrine; Middle Aged; Normetanephrine; Pheochromocytoma; Preoperative Period; ROC Curve; Retrospective Studies
PubMed: 34176938
DOI: 10.18926/AMO/62229