Synchronous and metachronous thyroid cancer, breast cancer, and melanoma in a premenopausal patient with Cowden syndrome

Abstract

Cowden syndrome is a rare autosomal dominant genetic disorder characterized by a germline mutation in the phosphatase and tensin homolog gene, leading to multiple hamartomas, neurodevelopmental disorders, and an increased lifetime risk of multiple cancers. Malignancy is the most common cause of mortality in Cowden syndrome, with breast cancer being the most common malignancy encountered in females with the disorder. Screening guidelines for this population should address this risk at an early age. We present a case of metachronous thyroid cancer followed by synchronous breast cancer and melanoma in a young female with Cowden syndrome, highlighting diagnostic imaging, management, and screening considerations.

Keywords

• Breast cancer
• Thyroid cancer
• Melanoma
• Cowden syndrome
• PTEN
• Screening