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Gs alpha and Gi2 alpha mutations in clinically non-functioning pituitary tumours
E A Williamson1, M Daniels, S Foster
1Department of Medicine, Medical School, Newcastle upon Tyne, UK.
Clinical Endocrinology
|December 1, 1994
Summary
Activating G protein gene mutations were found in 13% of non-functioning pituitary tumors. These mutations, including dual Gs alpha (gsp) and Gi2 alpha (gip) mutations, were associated with local bone infiltration.
Area of Science:
- Endocrinology
- Molecular Biology
- Oncology
Background:
- Activating mutations in Gs alpha (gsp) and Gi2 alpha (gip) are implicated in endocrine tumors.
- Non-functioning pituitary tumors (NFTs) are a significant clinical challenge.
Purpose of the Study:
- To determine the prevalence of gsp and gip mutations in NFTs.
- To compare clinical characteristics of pituitary tumors with and without G protein gene mutations.
Main Methods:
- Screened 22 NFTs and 20 normal pituitary glands for G protein gene mutations.
- Utilized site-directed hybridization and direct sequencing of amplified Gs alpha and Gi2 alpha DNA.
Main Results:
- G protein gene mutations were identified in 13% (3/22) of NFTs.
- Two NFTs had gsp mutations, and three had gip mutations; two NFTs had both.
- All tumors with G protein gene mutations showed local bone infiltration.
Conclusions:
- G protein gene mutations are present in a subset of non-functioning pituitary tumors.
- The co-occurrence of gsp and gip mutations suggests a potential stepwise pathogenesis in pituitary neoplasia.