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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
Summary
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.
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