-
AJR. American Journal of Roentgenology Jul 2022A considerable fraction of pheochromocytomas initially suspected to be sporadic, whether or not symptomatic, are a result of germline mutations. The purpose of this...
A considerable fraction of pheochromocytomas initially suspected to be sporadic, whether or not symptomatic, are a result of germline mutations. The purpose of this article is to compare imaging features between hereditary and sporadic pheochromocytomas. This retrospective study included 71 patients (39 women, 32 men; median age, 48 years) who underwent adrenal pheochromocytoma resection from January 2002 to October 2021 after preoperative CT or MRI. Two radiologists independently reviewed examinations to assess features of the largest resected pheochromocytoma. Interreader agreement was assessed by prevalence-adjusted bias-adjusted kappa coefficients; a third radiologist resolved discrepancies for further analysis. Genetic testing was used to classify pheochromocytomas as hereditary or sporadic and to classify hereditary pheochromocytomas by germline mutation clusters. Symptoms associated with pheochromocytomas and preoperative biochemical laboratory values were recorded. Groups were compared using Kruskal-Wallis, Fisher exact, and chi-square tests, and false-discovery rate-adjusted values were computed to account for multiple comparisons. Hereditary pheochromocytoma ( = 32), compared with sporadic pheochromocytoma ( = 39), was associated with younger median age (38 vs 52 years, = .001) and smaller median size (24 vs 40 mm, < .001). Interreader agreement for CT and MRI features, expressed as kappa, ranged from 0.44 to 1.00. Hereditary and sporadic pheochromocytoma showed no difference in frequency of calcifications, hemorrhage, cystic change/necrosis, or macroscopic fat on CT, or in frequency of hemorrhage, cystic change/necrosis, macroscopic fat, or microscopic fat on MRI ( > .05). When combining CT and MRI, cystic change/necrosis was observed in 35% of hereditary versus 67% of sporadic pheochromocytomas ( = .10). Hereditary pheochromocytoma, compared with sporadic, had lower frequency of symptoms (31% vs 74%; = .004) and lower 24-hour urinary normetanephrines (1.1 vs 5.1 times upper limits of normal, = .006). Among hereditary pheochromocytomas, cystic change/necrosis (when assessable on imaging) was present in 18% and 45% of those with cluster 1 ( = 11) and cluster 2 ( = 21) germ-line mutations, respectively. Hereditary pheochromocytomas, compared with sporadic, are detected at a younger age and smaller size, produce lower 24-hour urinary normetanephrines, are less often symptomatic, and may less frequently show cystic change/necrosis. Imaging findings may complement clinical and biochemical features in raising suspicion for a previously unsuspected germline mutation in patients with pheochromocytoma.
Topics: Adrenal Gland Neoplasms; Diagnostic Imaging; Female; Humans; Male; Middle Aged; Necrosis; Pheochromocytoma; Retrospective Studies
PubMed: 35080458
DOI: 10.2214/AJR.21.26918 -
Southern Medical Journal Nov 1993Cystic pheochromocytomas are unusual variants of adrenal pheochromocytomas. Computed tomography and pathologic findings in the two cases reported here illustrate three... (Review)
Review
Cystic pheochromocytomas are unusual variants of adrenal pheochromocytomas. Computed tomography and pathologic findings in the two cases reported here illustrate three cardinal principles in the diagnosis of cystic pheochromocytomas: (1) A suprarenal cystic tumor discovered on CT may be the result of hemorrhage and necrosis of an adrenal pheochromocytoma. (2) The cystic pheochromocytoma typically exhibits areas of low attenuation, with Hounsfield units in the range of 5 to 15 and rim enhancement on contrast administration. (3) Incidental adrenal lesions with these features discovered on CT scanning are an indication for catecholamine assays to screen for pheochromocytoma.
Topics: Adrenal Gland Neoplasms; Adult; Cysts; Female; Humans; Male; Middle Aged; Pheochromocytoma; Tomography, X-Ray Computed
PubMed: 8235793
DOI: 10.1097/00007611-199311000-00029 -
Progress in Pediatric Surgery 1991Pheochromocytomas are uncommon tumors of childhood, accounting for 1% of hypertension cases in this age-group. Children have a high incidence of bilateral, multiple, or...
Pheochromocytomas are uncommon tumors of childhood, accounting for 1% of hypertension cases in this age-group. Children have a high incidence of bilateral, multiple, or extra-adrenal tumors and a low incidence of malignancy. Alpha- and beta-blocking agents administered preoperatively have reduced complications markedly. Transabdominal resection is recommended because of the frequent extra-adrenal sites and multicentricity of the tumor in children. The mortality for removal of pheochromocytomas in childhood is currently less than 3%.
Topics: Adrenal Gland Neoplasms; Child; Humans; Pheochromocytoma
PubMed: 1904590
DOI: 10.1007/978-3-642-88324-8_13 -
Minerva Medica Aug 2003Pheochromocytomas are rare tumours of catecholamine-producing chromaffin cells leading to hypertension and symptoms of catecholamine excess. They can be benign or... (Review)
Review
Pheochromocytomas are rare tumours of catecholamine-producing chromaffin cells leading to hypertension and symptoms of catecholamine excess. They can be benign or malignant, sporadic or familial tumours. Genetic syndromes associated with pheochromocytoma are MEN II, VHL disease and neurofibromatosis type 1. Usually, pheochromocytomas occur in the adrenal medulla. Clinical manifestations include hypertension (which can be intermittent, stable or in the form of hypertensive peaks) and symptoms related to catecholamine excess such as headache, palpitations and tachycardia, pallor, anxiety and nervousness, nausea, vomiting, weight loss. This clinical syndrome can be mimicked by various hyperkinetic and hyperadrenergic states. When pheochromocytoma is suspected, the first diagnostic step is represented by the measurement of catecholamines and their metabolites (metanephrines) in urine and plasma. Chro-mogranin A measurement can be useful. The clonidine suppression test may be helpful in ruling out other conditions that may elevate catecholamines and metanephrines. Localiza-tion and staging of pheochromocytoma is based on MRI, which is more sensitive than CT scan, and (131)I-MIBG scintiscan. The best therapeutic option for pheochromocytoma is surgery with a laparoscopic approach. An appropriate pre-, intra- and postoperative medical management of the patient is mandatory. In the absence of optimal medical treatment, intraoperative mortality reaches 50%.
Topics: Adrenal Gland Neoplasms; Algorithms; Humans; Pheochromocytoma
PubMed: 14605591
DOI: No ID Found -
Frontiers of Hormone Research 2004Until very recently, the majority of hereditary pheochromocytomas were related to the MEN 2 and the VHL. In rare instances, hereditary pheochromocytoma was reported in... (Review)
Review
Until very recently, the majority of hereditary pheochromocytomas were related to the MEN 2 and the VHL. In rare instances, hereditary pheochromocytoma was reported in patients with NF1. In addition, nonsyndromic hereditary pheochromocytomas have been reported. Recently, three more genes (SDHD, SDHB, and SDHC) which are all related subunits of the mitochondrial complex II have been identified to cause susceptibility to pheochromocytoma and/or paraganglioma. Hence, mutation analysis of VHL, RET, SDHB, and SDHD is generally recommended in patients with pheochromocytoma regardless of their family history or other features suggestive for a hereditary form. Mutation analysis should start with VHL and RET. However, in the presence of extra-adrenal pheochromocytoma, it may be more useful to screen for VHL, SDHD and SDHB mutations. It is of interest that various different genes can lead to one type of tumor formation. A common pathway (i.e. oxygen sensing) has been shown for VHL and SDHX. However, although several genes that are involved in the pathogenesis of hereditary pheochromocytoma are known, the precise molecular steps in tumorigenesis are widely unknown. In addition, recent data in MEN 2 pheochromocytomas point to a 'second hit' mechanism as a trigger for tumor formation. The molecular pathogenesis of sporadic pheochromocytomas remains obscure [114].
Topics: Adrenal Gland Neoplasms; Animals; Humans; Pheochromocytoma
PubMed: 14674304
DOI: 10.1159/000074657 -
Biomedicine & Pharmacotherapy =... Jun 2000Pheochromocytoma is the tumor that produces catecholamines and originates from chromaffin cells, which are differentiated from sympathoadrenal progenitor cells of neural... (Review)
Review
Pheochromocytoma is the tumor that produces catecholamines and originates from chromaffin cells, which are differentiated from sympathoadrenal progenitor cells of neural crest under the influence of glucocorticoids. Genetic abnormalities of familial pheochromocytomas have elucidated oncogenic genetic bases of the tumor, including gene abnormalities of the RET proto-oncogene in multiple endocrine neoplasia type 2, VHL gene in von Hippel Lindau's disease or the NF1 gene in neurofibromatosis. Co-localization of various substances with catecholamines in the tumor, including neuropeptide Y, opioid peptides or adrenomedulOFF peptide elevating cAMP production, is recognized. The significance of these substances in modulating clinical features of pheochromocytomas is not fully understood.
Topics: Adrenal Gland Neoplasms; Catecholamines; Humans; Pheochromocytoma; Proto-Oncogene Mas
PubMed: 10915008
DOI: 10.1016/s0753-3322(00)80028-1 -
Journal of Nephrology 1997Extra-adrenal pheochromocytomas, or gangliomas, develop in the paraganglion chromaffin cells of the sympathetic nervous system. They account for 10% of all... (Review)
Review
Extra-adrenal pheochromocytomas, or gangliomas, develop in the paraganglion chromaffin cells of the sympathetic nervous system. They account for 10% of all pheochromocytomas in adults and 30-40% in children. These tumors are usually larger than their adrenal counterpart. The most common site of extra-adrenal phenochromocytomas is the para-adrenal area, but they also occur at the aortic bifurcation, chest, inferior mesenteric and iliac arteries, bladder, heart and brain. In this report, we describe a 13-year-old girl with a pheochromocytoma along the course of the left ureter, a finding which to our knowledge was previously described only once. Clinical presentation, diagnosis, and treatment are similar to adrenal tumors. Patients should be closely monitored with serum and urine catecholamine determination and MIBG scan to detect any recurrence or distant metastasis. Prognosis is usually good if the tumor is detected early to avoid major complications related to catecholamine excess.
Topics: Child; Female; Humans; Pheochromocytoma; Ureteral Neoplasms
PubMed: 9241621
DOI: No ID Found -
Experimental and Clinical Endocrinology... Mar 2007As rare and thus often overlooked hormone-secreting tumors, pheochromocytomas pose a particular diagnostic challenge. Difficulties involve biochemical confirmation,... (Review)
Review
As rare and thus often overlooked hormone-secreting tumors, pheochromocytomas pose a particular diagnostic challenge. Difficulties involve biochemical confirmation, localizing, and detection of malignancy. Measurement of free plasma metanephrines, genetic testing and specific imaging procedures--such as MIBG and octreotide scintigraphy or fluorodopamine PET--represent a considerable progress, and the management of benign pheochromocytomas has become very effective. However, a comparable improvement in the prognosis of malignant chromaffin cell tumors, which occur in approximately 10-15% of all cases, has not yet been achieved. Here, telomerase catalytic subunit (hTERT) activity and heat shock protein 90 expression could serve both as molecular markers allowing an earlier diagnosis of malignancy and as therapeutic targets. Familial syndromes should be considered both in benign and malignant pheochromocytoma, and should be tested for prior to surgery in selected patient groups.
Topics: Adrenal Gland Neoplasms; Diagnosis, Differential; Genetic Techniques; Humans; Pheochromocytoma; Sensitivity and Specificity
PubMed: 17427102
DOI: 10.1055/s-2007-970410 -
Annals of the New York Academy of... Aug 2006Tragically as many as 50% of pheochromocytomas are discovered at autopsy, mainly because the diagnosis of this neuroendocrine tumor was not considered. Missing the... (Review)
Review
Tragically as many as 50% of pheochromocytomas are discovered at autopsy, mainly because the diagnosis of this neuroendocrine tumor was not considered. Missing the diagnosis almost invariably results in devastating cardiovascular complications or death. Clinicians must always think of pheochromocytoma whenever evaluating a patient with sustained or paroxysmal hypertension or any manifestations suggesting hypercatecholaminemia. Very rarely, familial pheochromocytomas may cause no hypertension, symptoms, or signs. But biochemical testing can always establish the presence or absence of a pheochromocytoma, and localization with magnetic resonance imaging, computed tomography, or 131I or 123I-MIBG is almost always possible.
Topics: Adrenal Gland Neoplasms; Humans; Pheochromocytoma
PubMed: 17102067
DOI: 10.1196/annals.1353.001 -
Journal of the National Medical... Jul 1989Improvements in biochemical assays, radiographic imaging, and perioperative monitoring; the availability of selective adrenergic blockers; and a better understanding of... (Review)
Review
Improvements in biochemical assays, radiographic imaging, and perioperative monitoring; the availability of selective adrenergic blockers; and a better understanding of the pathophysiology of the disease have all contributed to the reduction in mortality and morbidity in patients with pheochromocytomas. Twenty-four-hour urinary catecholamines are more reliable than blood levels in detecting pheochromocytomas. The diagnosis may be confirmed by elevated epinephrine fractions when total catecholamine levels are normal. Computerized tomography is the preferred imaging tool, although ultrasound and magnetic resonance are preferred during pregnancy. 131I iobenguane scanning is useful in locating extra-adrenal disease and may have a role in the treatment of metastases. Total alpha-adrenergic blockade with phenoxybenzamine versus selective (alpha 1) blockage with prazosin are equally effective preoperatively. Invasive monitoring is necessary in all patients, and agents to control arrhythmias, hypertension, hypotension, and cardiac arrest are prepared in advance. Patients with benign lesions have an excellent cure rate, and those with malignancies have effective palliation of their symptoms.
Topics: Adrenal Gland Neoplasms; Humans; Pheochromocytoma; Prognosis
PubMed: 2666677
DOI: No ID Found