PRKAR positive angiomyxoma

Abstract

Carney complex is a rare multiple neoplasia syndrome characterized by spotty pigmented lesions of the skin, cardiac and non-cardiac myxomas, as well as multiple endocrine tumors. The disease is typically associated with inactivating mutations or deletions of the PRKAR1A gene on chromosome. We report the case of a 15-year-old male who presented with a right sided thigh mass found to be myxomatous in origin. Whole genome chromosome SNP microarray analysis of this mass revealed a deletion of the PRKAR1A gene characteristic of the Carney complex. However, a microarray analysis of the patient's blood did not demonstrate any deletion of the PRKAR1A gene. Furthermore, physical examination and echocardiogram did not locate any other myxomatous lesions. Patients with unusual presentations of Carney complex should undergo close monitoring to identify the development of other lesions characteristic of this syndrome, despite the lack of any gene mutation in the somatic cells. Keywords: Angiomyxoma, Carney complex, PRKAR1A gene