Genetic causes of functional adrenocortical adenomas

MC Zennaro, S Boulkroun… - Endocrine …, 2017 - academic.oup.com
Aldosterone and cortisol, the main mineralocorticoid and glucocorticoid hormones in
humans, are produced in the adrenal cortex, which is composed of three concentric zones …

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation

CL Ronchi, G Di Dalmazi, S Faillot… - The Journal of …, 2016 - academic.oup.com
Abstract Context: Adrenocortical adenomas (ACAs) are among the most frequent human
neoplasias. Genetic alterations affecting the cAMP/protein kinase A signaling pathway are …

Molecular genetic and genomic alterations in Cushing's syndrome and primary aldosteronism

CDC Kamilaris, CA Stratakis… - Frontiers in …, 2021 - frontiersin.org
The genetic alterations that cause the development of glucocorticoid and/or
mineralocorticoid producing benign adrenocortical tumors and hyperplasias have largely …

Genomic classification of benign adrenocortical lesions

S Faillot, T Foulonneau, M Néou… - Endocrine-Related …, 2021 - erc.bioscientifica.com
Benign adrenal tumors cover a spectrum of lesions with distinct morphology and steroid
secretion. Current classification is empirical. Beyond a few driver mutations …

Double adrenocortical adenomas harboring independent KCNJ5 and PRKACA somatic mutations

K Nanba, K Omata, SA Tomlins… - European journal of …, 2016 - academic.oup.com
Objective Co-secretion of cortisol and aldosterone can be observed in adrenal adenomas.
The aim of this study was to investigate the molecular characteristics of a co-existing …

Genetics in endocrinology: impact of race and sex on genetic causes of aldosterone-producing adenomas

K Nanba, WE Rainey - European journal of endocrinology, 2021 - academic.oup.com
Primary aldosteronism (PA) is a common cause of secondary hypertension. Recent
technological advances in genetic analysis have provided a better understanding of the …

Genetic, cellular, and molecular heterogeneity in adrenals with aldosterone-producing adenoma

K De Sousa, S Boulkroun, S Baron, K Nanba… - …, 2020 - Am Heart Assoc
Aldosterone-producing adenoma (APA) cause primary aldosteronism—the most frequent
form of secondary hypertension. Somatic mutations in genes coding for ion channels and …

PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases

A Thiel, AC Reis, M Haase, G Goh… - European journal of …, 2015 - academic.oup.com
Objective Cortisol excess due to adrenal adenomas or hyperplasia causes Cushing's
syndrome. Recent genetic studies have identified a somatic PRKACA L206R mutation as a …

Genetics of adrenal tumors associated with Cushing's syndrome: a new classification for bilateral adrenocortical hyperplasias

CA Stratakis, SA Boikos - Nature clinical practice Endocrinology & …, 2007 - nature.com
Adrenocortical causes of Cushing's syndrome include the following: common cortisol-
producing adenomas, which are usually isolated (without associated tumors) and sporadic …

Genetic alterations in benign adrenal tumors

G Pitsava, CA Stratakis - Biomedicines, 2022 - mdpi.com
The genetic basis of most types of adrenal adenomas has been elucidated over the past
decade, leading to the association of adrenal gland pathologies with specific molecular …