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INTRODUCTION

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Epidemiology

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Epidemiology
Incidence: 3–8 cases per one million population
Median age: 42 years
Male to female ratio: 1:1

The annual incidence of pheochromocytoma in the United States is not precisely known, but the high prevalence (0.05%) of pheochromocytomas found in autopsy series indicates that the tumor is underdiagnosed and that the annual incidence is likely to be higher than indicated

Eisenhofer G et al. Endocr Relat Cancer 2004;11: 423–436

Neumann HPH et al. N Engl J Med 2002;346: 1459–1466

Pacak K et al. Nat Clin Pract Endocrinol Metab 2007;3:91–102

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Pathology

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Pathology
  • Approximately 80–85% of pheochromocytomas are located in the adrenal gland. The remaining 15–20% are located along the paraaortic sympathetic chain, aortic bifurcation, and urinary bladder

  • Bilateral tumors occur in ~10% of patients and are much more common in familial pheochromocytomas

  • 5–36% of pheochromocytomas are malignant, but no widely accepted pathologic criteria exist for differentiating between benign and malignant pheochromocytoma

  • A diagnosis of malignancy requires evidence of metastases at nonchromaffin sites distant from that of the primary tumor

  • Although most cases of pheochromocytomas are sporadic, a significant proportion occur secondary to several hereditary syndromes. Hereditary contribution is approximately 30%. The propensity of malignancy in hereditary pheochromocytoma syndromes is highly variable

Pheochromocytoma in Hereditary Syndromes
Hereditary Syndrome Gene Frequency Predisposition to Malignancy Adrenal Disease Extraadrenal Disease
Von Hippel-Lindau disease (VHL) VHL 6–20% 3% ++ +
Multiple endocrine neoplasia types IIA and IIB (MEN IIA, MEN IIB) RET 30–50% <3% ++
Neurofibromatosis type 1 (NF1) NF 1–5% <3% ++ +
Familial paraganglioma and/or pheochromocytoma caused by mutation of succinate dehydrogenase gene family members SDHB 4–9% 66–83% + ++
SDHD 2–8% <2% + ++
SDHC <1% Not described + (head and neck)
SDHA <5% Not described + +
SDHAF2 Rare Not described + (head and neck)
None described TMEM127 3% Not described + Unknown

++, very common; +, common; –, rare

Frequency in sporadic tumors

Burnichon N et al. Hum Mol Genet 2010;19:3011–3020

Eisenhofer G et al. Endocr Relat Cancer 2004;11:423–436

Hao H-X et al. Science 2009;325:1139–1142

John H et al. Urology 1999;53:679–683

Mannelli M et al. J Med Genet 2007;44:586–587

O'Riordain DS et al. World J Surg 1996;20:916–921; discussion 922

Pacak K et al. Ann Intern Med 2001;134:315–329

Qin Y et al. Nat Genet 2010;42:229–233

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Evaluation

The diagnosis of pheochromocytoma is confirmed by biochemical evidence of elevated catecholamine production (preferably with measurement of plasma metanephrines) and by radiologic studies (Figure 31–1)

Acetaminophen may interfere with measurement of plasma metanephrines. Other drugs, including benzodiazepines, buspirone, diuretics, levodopa, tricyclic antidepressants, and α- and β-adrenergic blockers, may cause false-positive elevations of plasma or urine catecholamines or metanephrines. Currently, there is no drug interference using the new liquid ...

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