Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome with <i>PTEN</i> Mutation: A Case Report

Abstract

Cowden syndrome (CS), also known as multiple hamartomas syndrome, is a rare hereditary autosomal dominant disorder caused by a germline mutation in the phosphatase and tensin homolog (PTEN) gene mapped on chromosome 10. The clinical features of CS are variable, primarily presenting as mucocutaneous lesions (99%). A mucocutaneous lesion, such as trichilemmoma of the face or keratosis of the extremities, is an important diagnostic marker for CS. CS has been reported to increase the incidence of benign and malignant neoplasms in the breast, thyroid, and gastrointestinal tract. The risk of developing malignancy in individuals with CS is up to 10 times higher than general population throughout an entire life time. CASE REPORTJ Breast Dis 2018 December; 6(2): 79-83 https://doi.

A Case of Cowden Syndrome with Bilateral Breast Cancer: Invasive Carcinoma of No Special Type and Pure Cribriform Carcinoma

“…The tumor from the right breast consisted of DCIS of intermediate grade that was predominantly cribriform type. Different from the tumor in the right breast, the tumor in the left breast revealed DCIS of high-grade with various types, such as papillary, cribriform, solid, and comedo-type (14).…”