Year: 2010
Type: article
Study design: Case Report
Abstract: Carney complex is a syndrome that may include cardiac and mucocutaneous myxomas, spotting skin pigmentation, and endocrine lesions. Many patients with Carney complex have been shown to have a stop codon mutation in the PRKAR1A gene in the 17q22-24 region. Here we present the case of a 57 year-old man with multiple skin lesions and cardiac myxomas. Histology of the skin lesions showed lentigenous melanocytic hyperplasia and cutaneous myxomas, confirming the diagnosis of Carney complex. Lesional and control normal tissue from the patient were identified and sequenced for the PRKAR1A gene. A germline missense mutation was identified at exon 1A. This is the first report of this mutation, and one of the few reported missense mutation associated with Carney complex. This finding strengthens the argument that there are alternative ways in which the protein kinase A 1-alpha subunit plays a role in tumorigenesis.
Source: PubMed
Authors: Lorraine Pan, Lan Peng, J Jean-Gilles, Ximin Zhang, Rosemary Wieczorek, Shilpa Jain, Vicki Levine, Iman Osman, Victor G Prieto, Peng Lee
Institutions: New York University, Baylor College of Medicine
Language: English
Topic: Cardiac tumors and thrombi
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2234628122