PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy

Simple Summary In this manuscript, we present the associated imaging findings and imaging screening recommendations. Knowledge of the types of cancers commonly seen in Cowden syndrome and their imaging findings can aid in early tumor recognition during cancer screening to help ensure near-normal life spans in Cowden syndrome patients. PTEN hamartoma tumor syndrome/Cowden syndrome (CS) is a rare autosomal dominant syndrome containing a germline PTEN mutation that leads to the development of multisystem hamartomas and oncogenesis. Benign tumors such as Lhermitte-Duclos disease and malignant tumors involving the breast, thyroid, kidneys, and uterus are seen in CS. Radiologists have an integral role in the comanagement of CS patients. We present the associated imaging findings and imaging screening recommendations. Knowledge of the types of cancers commonly seen in CS and their imaging findings can aid in early tumor recognition during cancer screening to help ensure near-normal life spans in CS patients.

Automated summary

Cancer types commonly seen in Cowden syndrome patients include benign tumors like Lhermitte-Duclos disease and malignant tumors involving the breast, thyroid, kidneys, and uterus. Understanding the imaging findings of these tumors can help in early tumor recognition and improve patient survival rates.