Case Report Novel PRKAR1A gene mutations in carney complex
Lorraine Pan, Lan Peng, Jean-Gilles J, Ximin Zhang, Rosemary Wieczorek, Hui Tsou, Vicki Levine, Iman Osman, Victor G. Prieto, Peng Lee
Department of Pathology and Dermatology, New York University School of Medicine, New York Harbor Healthcare System, New York, New York and 4Department of Pathology, UT, M. D. Anderson Cancer Center, Houston TX
Received March 21, 2010, accepted April 28, 2010, available online May 10, 2010
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. (IJCEP1003009).
Address all correspondence to: Peng Lee, MD, PhD Department of Pathology and Urology New York University School of Medicine, 560 First Avenue, New York, NY 10010 Phone: (212)-9513418 E-mail: firstname.lastname@example.org