A Novel Somatic Deletion Mutation of ATP2B3 in Aldosterone-Producing Adenoma

Masanori Murakami, Takanobu Yoshimoto, Isao Minami, Ryotaro Bouchi, Kyoichiro Tsuchiya, Koshi Hashimoto, Hajime Izumiyama, Yasuhisa Fujii, Takashi Endo, Takumi Akashi, Koshiro Nishimoto, Kuniaki Mukai, Kazunori Kihara, Yoshihiro Ogawa

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

Abstract

Aldosterone-producing adenoma (APA) is a form of primary aldosteronism (PA). Recent studies suggested that somatic mutations in the KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes are involved in the pathogenesis of APA. We report a case of a 62-year-old man diagnosed as PA with left adrenal mass. He underwent adrenalectomy for treatment. We identified a novel somatic deletion mutation in ATP2B3 in the adrenal tumor: c.1269_1274delTGTGCT which spans three codons (423–425) resulting in p.Val424_Leu425del. Immunohistochemical analysis revealed strong expression of aldosterone synthase (CYP11B2) in the tumor tissue, which is consistent with APA. Here, we identified a novel somatic deletion mutation in ATP2B3, which results in the amino acid sequences increasing intracellular calcium concentrations as reported previously, leading to increased aldosterone synthase (CYP11B2) expression and following excess aldosterone production in the APA cells. The novel ATP2B3 mutation detected in our case supports the pathogenic significance of the locus spanning the codon 424–426 of ATP2B3.

Original languageEnglish
Pages (from-to)328-333
Number of pages6
JournalEndocrine pathology
Volume26
Issue number4
DOIs
Publication statusPublished - 2015 Dec 1

Keywords

  • ATP2B3
  • Aldosterone-producing adenoma
  • CYP11B2
  • Primary aldosteronism

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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