Novel PRKAR1A gene mutations in Carney Complex |
| |
| Authors: | Lorraine Pan Lan Peng J Jean-Gilles Ximin Zhang Rosemary Wieczorek Shilpa Jain Vicki Levine Iman Osman Victor G Prieto Peng Lee |
| |
| Affiliation: | 1Department of Pathology, New York University School of Medicine, NY, New York, USA;2Department of New York Harbor Healthcare System, New York University School of Medicine, NY, New York, USA;3Department of Dermatology, New York University School of Medicine, NY, New York, USA;44Department of Pathology, UT, M. D. Anderson Cancer Center, Houston, TX, USA;5Department of Urology, New York University School of Medicine, NY, New York, USA |
| |
| 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 |
| |
| Keywords: | Carney complex PRKAR1 mutation myxomas |
|
|
