A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.

Abstract

In a large family with CNC, one amino acid substitution caused a spectrum of adrenal disease that ranged from lack of manifestations to cancer. PPNAD and AC were the only manifestations of CNC in these patients, in addition to lentigines.

These data have implications for counseling patients with CNC and are significant in documenting the first case of AC in the context of PPNAD.

Full Text

• DOI - (DOI)
• Ovid Technologies, Inc. - full-text online
• HighWire Press - full-text online
• EBSCO - full-text online

Subjects

• Adolescent
• Adrenal Cortex Neoplasms
• Adrenal Gland Diseases
• Adrenocortical Carcinoma
• Adult
• Amino Acid Substitution
• Carney Complex
• Child
• Child, Preschool
• Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
• Family
• Female
• Glycine
• Humans
• Male
• Middle Aged
• Mutation, Missense
• Serine
• Young Adult

Similar articles

• The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation. (2013-01-12)
• Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). (2008-10-17)
• Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia. (2008-06-13)
• Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. (2010-01-08)
• Molecular cloning, chromosomal localization of human peripheral-type benzodiazepine receptor and PKA regulatory subunit type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A mutant cells and tissues. (2003-05-29)
• The Role of Unilateral Adrenalectomy in Corticotropin-Independent Bilateral Adrenocortical Hyperplasias. (2013-04-17)
• A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. (2006-05-08)
• Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. (2012-12-10)
• Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. (2009-06-04)

Authors

• João Anselmo
• Sandra Medeiros
• Victor Carneiro
• Elizabeth Greene
• Isaac Levy
• Maria Nesterova
• Charalampos Lyssikatos
• Anelia Horvath
• J Aidan Carney
• Constantine A Stratakis

Publication date

2012-02-07

Journal

Journal topics

• Endocrinology
• Metabolism

Language

Eng.

Copyright

Serviço de Endocrinologia e Nutriço, Ponta Delgada, São Miguel 9500, Azores, Portugal.

Release reference

J Clin Endocrinol Metab. 2012 Feb;97(2):351-9

Related books

• Books of Adrenal Cortex Neoplasms
• Books of Adrenal Gland Diseases
• Books of Adrenocortical Carcinoma
• Books of Amino Acid Substitution
• Books of Carney Complex
• Books of Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
• Books of Endocrinology
• Books of Family
• Books of Glycine
• Books of Metabolism
• Books of Mutation, Missense
• Books of Serine