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Outcome after surgery for primary hyperaldosteronism may depend on KCNJ5 tumor mutation status: a population-based study from Western Norway

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Abstract

Background

Primary aldosteronism (PA) is a frequent cause (about 10 %) of hypertension. Some cases of PA were recently found to be caused by mutations in the potassium channel KCNJ5. Our objective was to determine the mutation status of KCNJ5 and seven additional candidate genes for tumorigenesis: YY1, FZD4, ARHGAP9, ZFP37, KDM5C, LRP1B, and PDE9A and, furthermore, the surgical outcome of PA patients who underwent surgery in Western Norway.

Methods

Twenty-eight consecutive patients with aldosterone-producing adrenal tumors (20 patients with single adenoma, 8 patients with unilateral multiple adenomas or hyperplasia) who underwent surgery were included in this study. All patients were operated on by uncomplicated laparoscopic total adrenalectomy. Genomic DNA was isolated from tumor and non-tumor adrenocortical tissue, and DNA sequencing revealed the mutation status.

Results

Ten out of 28 (36 %) patients with PA displayed tumor mutations in KCNJ5 (p. G151R and L168R) while none were found in the corresponding non-tumor samples. No mutations were found in the other seven candidate genes screened. The presence of KCNJ5 mutations was associated with lower blood pressure and a higher chance for cure by surgery when compared to patients harboring the KCNJ5 wild type.

Conclusions

KCNJ5 mutations are associated with a better surgical outcome. Preoperative identification of the mutation status might have impact on surgical strategy (total vs. subtotal adrenalectomy).

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Acknowledgments

We would like to thank the Western Norway Regional Health Authority for financial support (grant to J.E.V. and M.B.).

Conflicts of interest

None.

Author information

Authors and Affiliations

  1. Department of Surgery, Haukeland University Hospital, 5021, Bergen, Norway

    Thomas Arnesen, Anette Heie, Jan Erik Varhaug & Michael Brauckhoff

  2. Department of Molecular Biology, Institute of Medicine, University of Bergen, 5020, Bergen, Norway

    Thomas Arnesen

  3. Department of Clinical Science, University of Bergen, 5020, Bergen, Norway

    Nina Glomnes, Siri Strømsøy, Jan Erik Varhaug & Michael Brauckhoff

  4. Department of Biomedicine, University of Bergen, 5020, Bergen, Norway

    Siri Strømsøy

  5. Section of Oncology, Institute of Medicine, University of Bergen, 5020, Bergen, Norway

    Stian Knappskog

  6. Department of Oncology, Haukeland University Hospital, 5021, Bergen, Norway

    Stian Knappskog

  7. The Gade Institute, University of Bergen, 5020, Bergen, Norway

    Lars A. Akslen

  8. Department of Endocrinology, Haukeland University Hospital, 5021, Bergen, Norway

    Marianne Grytaas

  9. Department of Clinical and Experimental Medicine, Linköping University, 581 83, Linköping, Sweden

    Oliver Gimm

  10. Department of Surgery, County Council of Östergötland, 581 85, Linköping, Sweden

    Oliver Gimm

  11. Department of Surgery, Haukeland University Hospital, University of Bergen, Jonas Lies vei 65, 5021, Bergen, Norway

    Michael Brauckhoff

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  1. Thomas Arnesen
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  2. Nina Glomnes
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Corresponding author

Correspondence to Michael Brauckhoff.

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Arnesen, T., Glomnes, N., Strømsøy, S. et al. Outcome after surgery for primary hyperaldosteronism may depend on KCNJ5 tumor mutation status: a population-based study from Western Norway. Langenbecks Arch Surg 398, 869–874 (2013). https://doi.org/10.1007/s00423-013-1093-2

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  • DOI: https://doi.org/10.1007/s00423-013-1093-2

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