Pheochromocytoma Characteristics and Behavior Differ Depending on Method of Discovery

J Clin Endocrinol Metab. 2019 May 1;104(5):1386-1393. doi: 10.1210/jc.2018-01707.

Abstract

Context: Modern pheochromocytomas (PHEOs) are often discovered by incidental finding on cross-sectional imaging or mutation-based genetic case detection testing. Little is known about how these PHEOs behave.

Objective: To describe the characteristics and behavior of PHEOs discovered incidentally on imaging or through mutation-based genetic case detection testing.

Design: Retrospective study.

Setting: Referral center.

Patients: Consecutive patients with pathology-confirmed PHEOs, treated from 2005 to 2016.

Main outcome measure(s): Tumor size, plasma/urine fractionated metanephrines and catecholamines, and preoperative management.

Results: Two hundred seventy-one patients (52% women, median age 52.0 years) presented with 296 PHEOs. Discovery method was most often incidental finding on cross-section imaging (61%) rather than PHEO-related symptoms (27%) or mutation-based case detection testing (12%). Patients with incidentally discovered PHEOs were older than symptomatic and mutation-based case detection testing patients (median age 56.6 vs 43 vs 35 years, P < 0.0001). Mutation-based case detection PHEOs were smaller than those discovered due to symptoms (median size 29.0 vs 50.5 mm, P = 0.0027). Patients with PHEOs discovered due to symptoms had the highest median concentration of 24-hour urinary metanephrines and total plasma metanephrines (P < 0.0001). These patients required a higher cumulative phenoxybenzamine dose than patients with incidental or case detection PHEO (median 450 vs 375 vs 270 mg, P = 0.029).

Conclusions: PHEOs are primarily discovered due to incidental finding on cross-sectional imaging rather than PHEO-related symptoms. PHEOs discovered through mutation-based genetic case detection testing were smaller and required less α-adrenergic blockade preoperatively compared with PHEOs found due to symptoms, which supports routine case detection testing for patients genetically predisposed for PHEOs.

MeSH terms

  • Adolescent
  • Adrenal Gland Neoplasms / diagnosis*
  • Adrenal Gland Neoplasms / genetics
  • Adrenal Gland Neoplasms / surgery
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics*
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Female
  • Follow-Up Studies
  • Genetic Testing
  • Humans
  • Incidental Findings
  • Male
  • Middle Aged
  • Mutation*
  • Pheochromocytoma / diagnosis*
  • Pheochromocytoma / genetics
  • Pheochromocytoma / surgery
  • Prognosis
  • Retrospective Studies
  • Severity of Illness Index*
  • Young Adult

Substances

  • Biomarkers, Tumor