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Screening for GPR101 defects in pediatric pituitary corticotropinomas
Giampaolo Trivellin1, Ricardo R Correa2, Maria Batsis3
1G Trivellin, Section Endocrinology and Genetics, NICHD, National Institutes of Health, Bethesda, 20892, United States.
Endocrine-Related Cancer
|March 11, 2016
Summary
G protein-coupled receptor GPR101 is not overexpressed in pediatric Cushing disease tumors. A rare GPR101 variant found in one patient showed no significant pathogenic effect, suggesting GPR101 is unlikely involved in Cushing disease.
Area of Science:
- Endocrinology
- Molecular Genetics
- Oncology
Background:
- Pediatric Cushing disease (CD) is primarily caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas.
- While genetic mutations in MEN1, CDKIs, AIP, and USP8 are known, the genetic basis for many pediatric CD cases remains elusive.
- GPR101, a gene implicated in somatotropinomas, was investigated for its potential role in corticotropinomas.
Purpose of the Study:
- To investigate the involvement of the G protein-coupled receptor GPR101 in the pathogenesis of pediatric Cushing disease.
- To analyze GPR101 expression, sequence variants, and functional effects in ACTH-secreting pituitary adenomas.
Main Methods:
- GPR101 sequencing was performed on DNA from 36 patients with sporadic CD.
- Gene expression analysis included RT-qPCR and immunostaining comparing tumor tissue to normal pituitary (NP).
- Functional studies assessed cell proliferation, pituitary hormone secretion, and cAMP signaling for GPR101 variants.
Main Results:
- GPR101 expression was not elevated in ACTH-secreting tumors compared to NP tissues.
- No correlation was found between GPR101 and ACTH expression levels.
- A rare germline GPR101 variant (p.G31S) in one patient showed modest cAMP signaling effects but no increased proliferation.
Conclusions:
- GPR101 is not overexpressed in pediatric ACTH-secreting pituitary adenomas.
- The identified rare germline GPR101 variant lacks strong evidence of pathogenicity in vitro.
- GPR101 is unlikely to be a significant factor in the development of pediatric Cushing disease.
