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Activating PRKACB somatic mutation in cortisol-producing adenomas.

Stéphanie Espiard^1,2, Matthias J Knape³, Kerstin Bathon⁴

¹Cochin Institute, Paris Descartes University, CNRS (UMR 8104)/Inserm (U1016), Paris, France.

|April 20, 2018

Summary

A novel mutation in the PRKACB gene, p.S54L, was identified in cortisol-producing adenomas (CPAs). This mutation disrupts protein kinase A (PKA) function, leading to increased signaling and potentially driving adrenal tumor growth.

Keywords:

Endocrinology Genetics Molecular genetics Protein kinases

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Area of Science:

Endocrinology
Molecular Biology
Oncology

Background:

Cortisol-producing adenomas (CPAs) are associated with mutations in the protein kinase A (PKA) catalytic subunit alpha gene.
The role of other PKA catalytic subunits, such as PRKACB (catalytic subunit beta), in adrenal tumorigenesis remains less understood.

Observation:

Whole-exome sequencing identified a somatic mutation, p.S54L, in the PRKACB gene in a CPA from a patient with severe Cushing syndrome.
The PRKACB p.S54L mutation was found to impair the formation of type I PKA holoenzymes.
These mutant holoenzymes exhibited heightened sensitivity to cyclic adenosine monophosphate (cAMP).

Findings:

Mutant PKA exhibited higher basal activity and lower maximal activity compared to wild-type PKA.
The PRKACB p.S54L mutation leads to increased baseline cAMP signaling activity in adenoma cells.
This aberrant signaling likely contributes to the autonomous growth of adrenal tumors.

Implications:

This study demonstrates, for the first time, that a PRKACB mutation can cause an adrenal tumor.
It reveals a novel mechanism of PKA pathway activation in CPAs.
The findings highlight the critical role of residue Ser54 in PKA function and suggest PRKACB as a potential therapeutic target in adrenal tumorigenesis.