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Int J Clin Exp Pathol 2010;3(5):545-548

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).

Keywords: Carney complex, PRKAR1, mutation, myxomas

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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:
peng.lee@nyumc.org