A Case of Breast Cancer in a Patient with Cowden Syndrome

Abstract

We present the case of a woman with Cowden syndrome who developed breast cancer. A 37-year-old woman presented with a thyroid adenoma, identified during a follow-up computed tomography scan for her pharyngeal mucosal polyposis. Due to the presence of macrocephaly and a skin tumor in her lower jaw were also observed, she was suspected of having Cowden syndrome. Her right breast cancer was also diagnosed via mammography, ultrasonography, and core needle biopsy, and was managed via mastectomy. Gene testing identified a pathogenic germline mutation of the PTEN gene.