USP8, USP48, and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing’s disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2021-10-18

AUTHORS

Ananth P. Abraham, Rekha Pai, Daniel L. Beno, Geeta Chacko, Hesarghatta Shyamasunder Asha, Simon Rajaratnam, Nitin Kapoor, Nihal Thomas, Ari G. Chacko

ABSTRACT

PurposeTo estimate the prevalence of USP8, USP48, and BRAF mutations in patients with Cushing’s disease (CD) from the Indian subcontinent, and determine their genotype-phenotype correlation.MethodsWe prospectively recruited 46 patients with CD who underwent surgery between September 2015 and July 2019 at our institute. Fresh frozen tumour tissue was obtained in all patients. Using Sanger sequencing, the presence of somatic USP8 mutations was documented and the frequency of USP48 and BRAF mutations in USP8 wild-type corticotroph adenomas was determined. Clinical, hormonal, and surgical data were then compared between USP8-, USP48- and BRAF-variant carriers and patients with wild-type tumours.ResultsSignature USP8 mutations were detected in 17 (37%) patients. Of the 29 USP8 wild-type adenomas, 4 (13.8%) harboured USP48 mutations, one of them being a splice-site mutation that has previously not been described. BRAF mutations were not found in any of the 29 patients. Corticotroph adenomas with USP8 mutations had a higher incidence of Crooke’s hyaline change than wild-type tumours (70.6 vs. 37.9%, p = 0.032). Adenomas with USP48 mutations had a higher rate of cavernous sinus invasion than their wild-type counterparts (50 vs. 4%, p = 0.042). No other significant phenotypic difference could be established between mutant and wild-type tumours.ConclusionsThe prevalence of USP8 mutations in our series of patients with CD was 37%. The prevalence of USP48 mutations in USP8 wild-type adenomas was 13.8%, including a novel splice-site mutation. BRAF mutations were not found in any USP8 wild-type tumour. USP8-mutants showed significantly more Crooke’s hyaline change and USP48-mutants were more likely to demonstrate cavernous sinus invasion. More... »

PAGES

549-559

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12020-021-02903-x

DOI

http://dx.doi.org/10.1007/s12020-021-02903-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1141987333

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/34664215


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