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Is there a common cause for paediatric Cushing's disease?

Katarzyna Pasternak-Pietrzak1, Fabio R Faucz2, Constantine A Stratakis2

  • 1Department of Neurosurgery, The Children's Memorial Health Institute (CMHI), Warsaw, Poland, Warsaw, Poland. kasia.a.pasternak@gmail.com.

Endokrynologia Polska
|October 30, 2020
PubMed

Insights

Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are common in Cushing's disease (CD). This study found no USP8 gene mutations in paediatric CD patients, suggesting they may not be a frequent cause in this population.

Area of Science:

  • Endocrinology
  • Genetics
  • Paediatric Medicine

Background:

  • Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are frequently identified in Cushing's disease (CD) patients.
  • Limited data exist on the prevalence of USP8 mutations in paediatric CD cases.

Purpose of the Study:

  • To determine the frequency of USP8 gene mutations in paediatric patients diagnosed with CD.
  • To assess the role of USP8 mutations in paediatric Cushing's disease.

Main Methods:

  • Retrospective analysis of 18 paediatric CD patients treated between 1993 and 2019.
  • DNA extraction from tumour tissue and Sanger sequencing of USP8 gene exon 14.
  • Evaluation of initial remission rates following transsphenoidal surgery (TSS).

Main Results:

  • The mean age at diagnosis was 13.08 years, with an average symptom duration of 2.96 years.
  • 83.33% of patients achieved initial biochemical remission after a single TSS.
  • Genetic testing revealed no hotspot mutations in the USP8 gene for any of the studied paediatric CD patients.

Conclusions:

  • USP8 gene mutations may not be a primary driver of Cushing's disease in the paediatric population.
  • Further research is needed to understand the genetic landscape of paediatric CD.
Abstract

Keywords:
Cushing’s diseaseUSP8 gene mutationsmolecular backgroundtranssphenoidal surgery

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