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Cowden Syndrome: Imaging Review and Cancer Surveillance.

Mindy X Wang¹, Ann Shi¹, Dhanwin Shetty¹

¹Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, 1400 Pressler St, Unit 1473, Houston, TX 77030.

Radiographics : a Review Publication of the Radiological Society of North America, Inc

|February 26, 2026

Summary

Cowden syndrome (CS) is a rare genetic disorder caused by PTEN gene mutations, increasing cancer risk. Early diagnosis and surveillance are crucial for managing this condition and its associated malignancies.

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Area of Science:

Genetics and Molecular Biology
Oncology
Medical Syndromes

Background:

Cowden syndrome (CS) is an autosomal-dominant disorder linked to PTEN gene mutations.
It activates the PI3K/AKT/mTOR pathway, leading to hamartomas and increased cancer risk.
CS predisposes individuals to breast, thyroid, renal, endometrial, and colorectal cancers.

Purpose of the Study:

To review the genetics, molecular pathogenesis, and clinical manifestations of Cowden syndrome.
To highlight imaging features and current surveillance recommendations for CS.
To provide an updated overview for clinicians and researchers.

Main Methods:

Literature review of genetics, molecular pathogenesis, clinical features, and imaging.
Analysis of National Comprehensive Cancer Network (NCCN) surveillance guidelines.
Synthesis of current knowledge on Cowden syndrome management.

Main Results:

CS is characterized by multisystem hamartomatous lesions and a high predisposition to malignancies.
Key features include Lhermitte-Duclos disease, macrocephaly, and various cancers.
Mucocutaneous lesions like trichilemmomas often appear early, preceding cancer development.

Conclusions:

Early and comprehensive evaluation, including genetic and imaging assessments, is vital for CS diagnosis and management.
Regular surveillance using mammography, MRI, and ultrasound is recommended to detect malignancies early.
Understanding CS genetics and clinical spectrum guides effective patient care and monitoring.