GNAS mutations in adrenal aldosterone-producing adenomas [Rapid Communication]

Yasuyo Nakajima; Takashi Okamura; Kazuhiko Horiguchi; Tamae Gohko; Tomoko Miyamoto; Tetsurou Satoh; Atsushi Ozawa; Sumiyasu Ishii; Eijiro Yamada; Koshi Hashimoto; Shuichi Okada; Daisuke Takata; Jun Horiguchi; Masanobu Yamada

doi:10.1507/endocrj.EJ15-0642

RAPID COMMUNICATIONS

GNAS mutations in adrenal aldosterone-producing adenomas [Rapid Communication]

Yasuyo Nakajima, Takashi Okamura, Kazuhiko Horiguchi, Tamae Gohko, Tomoko Miyamoto, Tetsurou Satoh, Atsushi Ozawa, Sumiyasu Ishii, Eijiro Yamada, Koshi Hashimoto, Shuichi Okada, Daisuke Takata, Jun Horiguchi, Masanobu Yamada

Author information

Yasuyo Nakajima
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Takashi Okamura
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Kazuhiko Horiguchi
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Tamae Gohko
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Tomoko Miyamoto
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Tetsurou Satoh
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Atsushi Ozawa
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Sumiyasu Ishii
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Eijiro Yamada
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Koshi Hashimoto
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Shuichi Okada
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Daisuke Takata
Department of Thoracic and Visceral Organ Surgery, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Jun Horiguchi
Department of Thoracic and Visceral Organ Surgery, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan
Masanobu Yamada
Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Maebashi 371-8511, Japan

Keywords: GNAS, Adrenal adenomas

JOURNAL FREE ACCESS

2016 Volume 63 Issue 2 Pages 199-204

DOI https://doi.org/10.1507/endocrj.EJ15-0642

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Abstract

Mutations in GNAS, which encodes Gsα, have been documented in detail, particularly in human pituitary GH-secreting adenomas. Mutations have also recently been reported in adrenal cortisol-producing adenomas (CPAs), in addition to those in the PRKACA gene. However, mutations have not yet been examined in aldosterone-producing adenomas (APAs). Therefore, we herein investigated mutations in the GNAS gene in APAs. Two of the 15 (13%) CPAs with overt Cushing’s syndrome and one of the 9 (11%) CPAs with subclinical Cushing’s syndrome examined had the somatic mutations, p.R201S and p.R201C in the GNAS gene. We identified mutations in the GNAS gene (p.R201C) in 2 out of the 33 (6%) APAs tested, both of which showed autonomous cortisol secretion, while 24 APAs had mutations in the KCNJ5 gene (18 with p.G151R and 6 with p.L168R). These GNAS and KCNJ5 mutations were mutually exclusive in these adenomas. We herein demonstrated for the first time the presence of GNAS mutations in APAs, as well as in some cortisol-secreting adenomas. Our results suggest that these mutations, in addition to mutations in the KCNJ5 gene and other genes such as ATP1A1, ATP2B3 and CACNA1D, may be responsible for the tumorigenesis of APAs and CPAs with subclinical Cushing’s syndrome.

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