Journal of Breast Disease

Korean Breast Cancer Society (한국유방암학회)
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Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome with PTEN Mutation: A Case Report

  • Kwon, Sun Young (Department of Pathology, Keimyung University School of Medicine) ;
  • Yeo, Soo Hyun (Department of Radiology, Keimyung University School of Medicine) ;
  • Ha, Jung Sook (Department of Laboratory Medicine, Keimyung University School of Medicine) ;
  • Kang, Sun Hee (Department of General Surgery, Keimyung University School of Medicine)
  • Received : 2018.02.12
  • Accepted : 2018.08.01
  • Published : 2018.12.31
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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.

Keywords

References

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