Cowden syndrome presenting as breast cancer: imaging and clinical features

Korean J Radiol. 2014 Sep-Oct;15(5):586-90. doi: 10.3348/kjr.2014.15.5.586. Epub 2014 Sep 12.

Abstract

Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.

Keywords: Breast cancer; Cowden syndrome; PTEN; Ultrasonography, MRI.

Publication types

  • Case Reports

MeSH terms

  • Arteriovenous Malformations / diagnostic imaging
  • Breast Neoplasms / complications*
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / diagnostic imaging
  • DNA / analysis
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Hamartoma Syndrome, Multiple / complications*
  • Hamartoma Syndrome, Multiple / diagnosis*
  • Hamartoma Syndrome, Multiple / diagnostic imaging
  • Hamartoma Syndrome, Multiple / genetics
  • Humans
  • PTEN Phosphohydrolase / genetics
  • Thyroid Neoplasms / diagnostic imaging
  • Tomography, X-Ray Computed
  • Ultrasonography
  • Young Adult

Substances

  • DNA
  • PTEN Phosphohydrolase