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

ABSTRACT:

Context

Most tumors in Carney complex (CNC) are benign, including primary pigmented nodular adrenocortical disease (PPNAD), the main endocrine tumor in CNC. Adrenocortical cancer (AC) has never been observed in the syndrome. Herein, we describe a large Azorean family with CNC caused by a point mutation in the PRKAR1A gene coding for type 1-α (RIα) regulatory subunit of the cAMP-dependent protein kinase A, in which the index patient presented with AC.

Objective

We studied the genotype-phenotype correlation in CNC.

Design and setting

We reported on case series and in vitro testing of the PRKAR1A mutation in a tertiary care referral center.

Patients

Twenty-two members of a family were investigated for Cushing syndrome and other CNC components; their DNA was sequen

SUBMITTER: Anselmo J 

PROVIDER: S-EPMC3275364 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature