Genetic Dissection of Primary Aldosteronism in a Patient with MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma.

Stéfanie Parisien La SalleGilles CorbeilZaki El-HaffafCaroline DuranceauMathieu LatourPierre I KarakiewiczAndré Lacroix Isabelle Bourdeau

Published in: The Journal of clinical endocrinology and metabolism (2022)

To our knowledge, we describe the first case of adrenal collision tumors in a patient carrying a germline pathogenic variant of the MEN1 gene associated with MEN1 loss of heterozygosity in both oncocytic ACC and adenoma and a somatic KCNJ5 pathogenic variant leading to aldosterone-producing adenoma (APA). This case gives new insights on adrenal tumorigenesis in MEN1 patients.

Keyphrases

middle aged
end stage renal disease
copy number
case report
newly diagnosed
chronic kidney disease
prognostic factors
oxidative stress
angiotensin ii
dna repair
dna damage
patient reported