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Hyein Jung 1 Article
Clinical Study
Associations of GNAS Mutations with Surgical Outcomes in Patients with Growth Hormone-Secreting Pituitary Adenoma
Hyein Jung, Kyungwon Kim, Daham Kim, Ju Hyung Moon, Eui Hyun Kim, Se Hoon Kim, Cheol Ryong Ku, Eun Jig Lee
Endocrinol Metab. 2021;36(2):342-350.   Published online March 23, 2021
DOI: https://doi.org/10.3803/EnM.2020.875
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  • 4 Web of Science
  • 5 Crossref
AbstractAbstract PDFPubReader   ePub   
Background
The guanine nucleotide-binding protein, alpha stimulating (GNAS) gene has been associated with growth hormone (GH)-secreting pituitary adenoma. We investigated the prevalence of GNAS mutations in Korean patients with acromegaly and assessed whether mutation status correlated with biochemical or clinical characteristics.
Methods
We studied 126 patients with acromegaly who underwent surgery between 2005 and 2014 at Severance Hospital. We performed GNAS gene analysis and evaluated age, sex, hormone levels, postoperative biochemical remission, and immunohistochemical staining results of the tumor.
Results
GNAS mutations were present in 75 patients (59.5%). Patients with and without GNAS mutations showed similar age distribution and Knosp classification. The proportion of female patients was 76.5% and 48.0% in the GNAS-negative and GNAS-mutation groups, respectively (P=0.006). In immunohistochemical staining, the GNAS-mutation group showed higher GH expression in pituitary tumor tissues than the mutation-negative group (98.7% vs. 92.2%, P=0.015). Patients with GNAS mutations had higher preoperative insulin-like growth factor-1 levels (791.3 ng/mL vs. 697.0 ng/mL, P=0.045) and lower immediate postoperative basal (0.9 ng/mL vs. 1.0 ng/mL, P=0.191) and nadir GH levels (0.3 ng/mL vs. 0.6 ng/mL, P=0.012) in oral glucose tolerance tests. Finally, the GNAS-mutation group showed significantly higher surgical remission rates than the mutation-negative group, both at 1 week and 6 months after surgical resection (70.7% vs. 54.9%, P=0.011; 85.3% vs. 82.4%, P=0.007, respectively).
Conclusion
GNAS mutations in GH-secreting pituitary tumors are associated with higher preoperative insulin-like growth factor-1 levels and surgical remission rates and lower immediate postoperative nadir GH levels. Thus, GNAS mutation status can predict surgical responsiveness in patients with acromegaly.

Citations

Citations to this article as recorded by  
  • Genetic diagnosis in acromegaly and gigantism: From research to clinical practice
    Claudia Ramírez-Rentería, Laura C. Hernández-Ramírez
    Best Practice & Research Clinical Endocrinology & Metabolism.2024; 38(3): 101892.     CrossRef
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    PLOS ONE.2023; 18(2): e0281647.     CrossRef
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    Thoracic Cancer.2023; 14(20): 1980.     CrossRef
  • Multiomics Approach to Acromegaly: Unveiling Translational Insights for Precision Medicine
    Kyungwon Kim, Cheol Ryong Ku, Eun Jig Lee
    Endocrinology and Metabolism.2023; 38(5): 463.     CrossRef
  • Hotspots of Somatic Genetic Variation in Pituitary Neuroendocrine Tumors
    Mariana Torres-Morán, Alexa L. Franco-Álvarez, Rosa G. Rebollar-Vega, Laura C. Hernández-Ramírez
    Cancers.2023; 15(23): 5685.     CrossRef
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