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Histopathologic Findings in a Patient with Cowden Syndrome Undergoing Prophylactic Bilateral Mastectomy

Year: 2026

Type: article

Abstract: PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by the PTEN mutation that include Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN Related Proteus-like syndrome, adult Lhermitte-Duclos disease (LDD), and autism spectrum disorders with macrocephaly. In female patients, this syndrome is associated with up to a 50% lifetime risk of developing breast cancer, and current National Comprehensive Cancer Network (NCCN) Guidelines state that depending on the personal/family history, the option of risk-reducing bilateral mastectomy should be discussed with patients. However, there is little current literature regarding expected mammary histopathologic findings in these patients. Here, we present the histopathologic findings in a patient with Cowden Syndrome undergoing bilateral prophylactic mastectomy. Numerous benign lesions are seen with no evidence of malignancy, raising the question of a need for more rigorous risk assessment and clearer guidelines regarding management of these patients.

Source: Scholars Journal of Medical Case Reports

DOI: 10.36347/sjmcr.2026.v14i04.061

Authors: Nathan A. Williams, Autumn R. LaRocque, Yvonne M. Rasko, Olga B. Ioffe, Amy J. Plotkin

Institutions: University of Maryland Medical Center, University of Maryland, Baltimore

Topic: Breast Lesions and Carcinomas

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7160923091

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