Age at Diagnosis of Pheochromocytoma Differs According to Catecholamine Phenotype and Tumor Location

Eisenhofer, Graeme; Timmers, Henri J L M; Lenders, Jacques W.M.; Bornstein, Stefan R.; Tiebel, Oliver; Mannelli, Massimo; King, Kathryn S.; Vocke, Cathy D.; Linehan, W. Marston; Bratslavsky, Gennady; Pacák, Karel

doi:10.1210/jc.2010-1588

Cited by 91 publications

(55 citation statements)

References 28 publications

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“…In our patient, nor-epinephrine production was higher than epinephrine. This finding is in line with studies that in patients with negligible epinephrine-producing tumors, age at diagnosis was earlier than in epinephrine-producing tumors 12,13. Computed tomography can localize the adrenal tumors, and MRI is superior for the detection of extra-adrenal tumors.…”

Section: Discussionsupporting

confidence: 90%

Rare complications of neurofibromatosis 1 diagnosed incidentally in two children

Lazea

Asăvoaie²,

Alkhzouz³

et al. 2018

TCRM

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Neurofibromatosis 1 (NF1) is an autosomal-dominant disorder with various clinical expressivity and complications. Arterial hypertension may be present in patients with NF1 and is secondary to vasculopathy or pheochromocytoma. We herein describe two children (17 and 4 years old) diagnosed late with NF1 after severe arterial hypertension had been discovered due to pheochromocytoma and middle aortic syndrome. Routine measurement of arterial pressure is mandatory in children with NF1, in order to diagnose the complications of this disease.

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Section: Discussionsupporting

confidence: 90%

Rare complications of neurofibromatosis 1 diagnosed incidentally in two children

Lazea

Asăvoaie²,

Alkhzouz³

et al. 2018

TCRM

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“…A recent report by Zelinka et al [9] combined DA-secreting tumors with non-secretory tumors but found no difference between benign and malignant tumors. The probable reason for this may be the low number of patients with SDH-B mutations in their patient population (N = 2); such tumors are associated with both higher percentage of malignancy and DAsecreting/silent tumors [34][35][36][37][38]. The group of malignant DA-secreting/silent tumors did, however, show a significantly decreased survival in this study, exhibiting a 5-year survival of around 50% [9].…”

Section: Biochemistrymentioning

confidence: 57%

Pheochromocytomas and paragangliomas: assessment of malignant potential

Korevaar

Grossman

2011

Endocrine

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Pheochromocytomas and paragangliomas (PPGLs) are rare catecholamine-secreting tumors which arise from the adrenal glands or sympathetic neuronal tissue. Malignant transformation of these tumors occurs in a significant proportion and may therefore lower overall survival rates. In patients with PPGLs it is impossible to identify malignant disease without the presence of metastatic disease, something which can occur as long as 20 years after initial surgery. Early identification of malignant disease would necessitate a more aggressive treatment approach, something which may result in better disease outcome. We have therefore reviewed possible predictors of malignancy and current developments in order to help clinicians to swiftly assess malignant potential in patients with PPGLs. Currently, there is no absolute marker which can objectively reflect malignant potential. Tumor size is the most reliable predictor and should therefore be used as the baseline characteristic. The combination of various clinical markers (extra-adrenal disease and post-operative hypertension), biochemical markers (high dopamine, high norepinephrine and epinephrine to total catecholamine ratio) and/or histological markers (SNAIL, microRNAs and/or microarray results) can raise or lower the suspicion of malignancy. Furthermore, we discuss how clinical markers may affect biochemical results linked to malignancy, how biochemical results may distinguish hereditary syndromes, the role of imaging in determining malignant potential and tumor detection, and recent results of proposed histological markers.

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“…As described previously (15), adrenaline-producing tumours were defined by both increased plasma concentrations of metanephrine above the upper cut-offs (88 pg/ml, 0.45 nmol/l) and increases in metanephrine larger than 5% of the combined increases in both plasma normetanephrine and metanephrine. The latter was defined by the equation %MN t Z((MN t )/(NMN t CMN t ))!…”

Section: Definition Of Adrenaline-producing Ppglsmentioning

confidence: 99%

“…100 where MN t and NMN t are tumour-derived plasma concentrations of metanephrine and normetanephrine. As described previously (15), tumour-derived concentrations were determined by subtracting mean concentrations in a reference population of patients without PPGLs from measured concentrations in patients with PPGLs.…”

Section: Definition Of Adrenaline-producing Ppglsmentioning

confidence: 99%

Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma

Sue

Martucci

Frey

et al. 2015

European Journal of Endocrinology

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Objective: Testing for succinate dehydrogenase subunit B (SDHB) mutations is recommended in all patients with metastatic phaeochromocytomas and paragangliomas (PPGLs), but may not be required when metastatic disease is accompanied by adrenaline production. This retrospective cohort study aimed to establish the prevalence of SDHB mutations among patients with metastatic PPGLs, characterised by production of adrenaline compared with those without production of adrenaline, and to establish genotype-phenotype features of metastatic PPGLs according to underlying gene mutations. Design and methods: Presence of SDHB mutations or deletions was tested in 205 patients (114 males) aged 42G16 years (range 9-86 years) at diagnosis of metastatic PPGLs with and without adrenaline production. Results: Twenty-three of the 205 patients (11%) with metastatic PPGLs had disease characterised by production of adrenaline, as defined by increased plasma concentrations of metanephrine larger than 5% of the combined increase in both normetanephrine and metanephrine. None of these 23 patients had SDHB mutations. Of the other 182 patients with no tumoural adrenaline production, 51% had SDHB mutations. Metastases in bone were 36-41% more prevalent among patients with SDHB mutations or extra-adrenal primary tumours than those without mutations or with adrenal primary tumours. Liver metastases were 81% more prevalent among patients with adrenal than extra-adrenal primary tumours. Conclusion: SDHB mutation testing has no utility among patients with adrenaline-producing metastatic PPGLs, but is indicated in other patients with metastatic disease. Our study also reveals novel associations of metastatic spread with primary tumour location and presence of SDHB mutations.

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Age at Diagnosis of Pheochromocytoma Differs According to Catecholamine Phenotype and Tumor Location

Cited by 91 publications

References 28 publications

Rare complications of neurofibromatosis 1 diagnosed incidentally in two children

Rare complications of neurofibromatosis 1 diagnosed incidentally in two children

Pheochromocytomas and paragangliomas: assessment of malignant potential

Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma

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