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

Overview

Journal Cancers (Basel)

Publisher MDPI

Specialty Oncology

Date 2021 Jul 2

PMID 34206559

Citations 21

Authors

David D Dragoo

Ahmed Taher

Vincenzo K Wong

Ahmed Elsaiey

Nikita Consul

Hagar S Mahmoud

Bilal Mujtaba

Nir Stanietzky

Khaled M Elsayes

Affiliations

Soon will be listed here.

Abstract

hamartoma tumor syndrome/Cowden syndrome (CS) is a rare autosomal dominant syndrome containing a germline 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.

Citing Articles

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Advances in Molecular Mechanisms of Kidney Disease: Integrating Renal Tumorigenesis of Hereditary Cancer Syndrome.

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