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Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease

Fabio R Faucz1, Amit Tirosh1,2, Christina Tatsi1

  • 1Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

The Journal of Clinical Endocrinology and Metabolism
|May 16, 2017
PubMed

Insights

Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are common in pediatric Cushing disease (CD). These USP8 mutations increase the risk of tumor recurrence in affected children.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatric Oncology

Background:

  • Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are the most frequent genetic alteration in Cushing disease (CD).
  • The prevalence of USP8 mutations in pediatric CD patients remains under-assessed.

Purpose of the Study:

  • To investigate the frequency and impact of somatic USP8 gene mutations in pediatric patients with corticotroph adenomas.

Main Methods:

  • Full sequencing of the USP8 gene in germline and tumor DNA from 42 pediatric CD patients.
  • Comparison of clinical, biochemical, and imaging data between patients with and without somatic USP8 mutations.

Main Results:

  • Somatic USP8 mutations were identified in 31% of pediatric CD patients, all located in exon 14.
  • Patients with USP8 mutations were older at presentation and had a significantly higher risk of tumor recurrence (46.2% vs 10.3%).

Conclusions:

  • Somatic USP8 gene mutations are a frequent cause of pediatric CD.
  • USP8 mutations are associated with an increased likelihood of tumor recurrence, suggesting their importance for prognosis and targeted therapy development.
Abstract

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