Clinical and biochemical features of seven adult adrenal ganglioneuromas

J Clin Endocrinol Metab. 2010 Jul;95(7):3118-25. doi: 10.1210/jc.2009-2775. Epub 2010 Apr 28.

Abstract

Background: Adrenal ganglioneuroma (GN) is seldom considered in the differential diagnosis of adrenal lesions, and its clinical presentation is not well known.

Objective: Our aim was to describe the clinical, biochemical, and radiological features of adrenal GNs in adults.

Methods: Seven adults underwent endocrine investigation for adrenal lesions that were confirmed to be adrenal GNs.

Results: Mean age of the seven patients was 49 yr (range, 23 to 71 yr). Average tumor diameter was 5.0 cm (range, 1.5 to 10.4 cm). In five patients, the adrenal lesions were found incidentally. A 49-yr-old female carried a germline mutation in MSH2 gene. A 57-yr-old female presented with mild virilization and increased testosterone levels. Bilateral adrenal venous sampling revealed testosterone production from her right adrenal lesion. All tumors showed nonenhanced attenuation between 25 and 40 Hounsfield units on computed tomography scan. Magnetic resonance imaging revealed low- to iso-signal intensity on T1-weighted imaging and high-signal intensity on T2-weighted imaging. [(18)F]-2-Fluoro-deoxy-d-glucose-positron emission tomography scan (n = 5) disclosed a mean standard uptake value of 2.4. Three tumors were composite pheochromocytoma-GN. Microsatellite instability study and immunohistochemical analysis of MSH2 protein in a patient carrying a MSH2 mutation showed normal MSH2 protein expression and low microsatellite instability, indicating that the adrenal GN was not related to the patient's MSH2 germline defect.

Conclusions: We describe one of the largest series of adult adrenal GNs. Adrenal GNs may secrete testosterone or be part of a composite tumor with pheochromocytoma. The association of adrenal GN with MSH2 mutation seems to be a coincidental finding.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / metabolism
  • Adrenal Gland Neoplasms / diagnostic imaging
  • Adrenal Gland Neoplasms / metabolism
  • Adrenal Gland Neoplasms / pathology*
  • Adrenal Glands / diagnostic imaging
  • Adrenal Glands / metabolism
  • Adrenal Glands / pathology*
  • Adult
  • Aged
  • Diagnosis, Differential
  • Female
  • Ganglioneuroma / diagnostic imaging
  • Ganglioneuroma / metabolism
  • Ganglioneuroma / pathology*
  • Humans
  • Immunohistochemistry
  • Incidental Findings
  • Magnetic Resonance Imaging
  • Male
  • Microsatellite Instability
  • Middle Aged
  • MutL Protein Homolog 1
  • MutL Proteins
  • Neoplasm Proteins / metabolism
  • Nuclear Proteins / metabolism
  • Pheochromocytoma / diagnostic imaging
  • Pheochromocytoma / metabolism
  • Pheochromocytoma / pathology*
  • Radiography

Substances

  • Adaptor Proteins, Signal Transducing
  • MLH1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • PMS1 protein, human
  • MutL Protein Homolog 1
  • MutL Proteins