Recent advances in genetics, diagnosis, localization, and treatment of pheochromocytoma

Ann Intern Med. 2001 Feb 20;134(4):315-29. doi: 10.7326/0003-4819-134-4-200102200-00016.

Abstract

Pheochromocytoma is a rare but important tumor of chromaffin cells that is frequently considered in the evaluation of hypertension, arrhythmias, or panic disorder and in the follow-up of patients with particular genetic diseases. This report provides an update about the genetics, neurochemical diagnosis, localization by imaging, and surgical management of pheochromocytoma. Specific mutations of the RET proto-oncogene cause familial predisposition to pheochromocytoma in multiple endocrine neoplasia type II, and mutations in the von Hippel-Lindau tumor suppressor gene cause familial disposition to pheochromocytoma in von Hippel-Lindau disease. Recent findings demonstrating extraordinarily high sensitivity of plasma levels of metanephrines for detecting pheochromocytoma have led to an algorithm for clinical diagnostic steps. Nuclear imaging approaches, such as(123) I-metaiodobenzylguanidine scintigraphy and 6-[(18) F]fluorodopamine positron emission tomography, enhance both diagnosis and localization of the tumor, as described in an algorithm for patients with positive biochemical test results. Since pheochromocytoma is often benign, surgical resection by laparoscopic adrenalectomy can be curative. Areas requiring further work include determining appropriate follow-up of patients with familial pheochromocytoma, elucidating the bases for phenotypic differences, improving both specificity and sensitivity of biochemical tests, optimizing cost-effectiveness of diagnostic imaging, and testing the risk for tumor recurrence after partial adrenalectomy.

Publication types

  • Consensus Development Conference
  • Consensus Development Conference, NIH
  • Review

MeSH terms

  • Adrenal Gland Neoplasms* / diagnosis
  • Adrenal Gland Neoplasms* / genetics
  • Adrenal Gland Neoplasms* / surgery
  • Algorithms
  • Biochemistry / methods
  • Diagnostic Imaging
  • Humans
  • Pheochromocytoma* / diagnosis
  • Pheochromocytoma* / genetics
  • Pheochromocytoma* / surgery
  • Proto-Oncogene Mas
  • Sensitivity and Specificity