Korean J Radiol.  2014 Oct;15(5):586-590. 10.3348/kjr.2014.15.5.586.

Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features

• Seo M
• Cho N
• Ahn HS
• Moon HG

• KMID: 1734943
• DOI: http://doi.org/10.3348/kjr.2014.15.5.586

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.

Keyword

Cowden syndrome; PTEN; Breast cancer; Ultrasonography, MRI

MeSH Terms

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

Figure

• 

  Fig. 1 Left breast cancer, multiple bilateral benign breast masses, left thyroid cancer and arteriovenous malformation (AVM) in left parotid gland in 22-year-old woman with Cowden syndrome. A. Post-contrast neck CT scan shows tumor in left thyroid gland which was revealed as invasive follicular carcinoma at surgery. B. External carotid angiography confirmed diagnosis of AVM with feeder vessel arising from left internal maxillary artery (arrows). C. Breast ultrasonography (US) shows oval, circumscribed, hypoechoic mass. Color Doppler US of mass shows increased vascularity in center of mass. US-guided vacuum assisted core needle excision for lesion revealed ductal carcinoma in situ involving fibroadenoma. D. Three-dimensional maximum intensity projection image of post-contrast magnetic resonance image after US-guided vacuum assisted excision shows multiple bilateral enhancing masses. E. T2-weighted image shows multiple masses with internal high or intermediate signal intensities and no residual mass in previously excised site (arrow) in left breast. F. Post-contrast T1-weighted sagittal image also shows multiple enhancing masses and no residual mass in previously excised site (arrow) in left breast. Kinetic curve analysis in largest mass shows initial rapid enhancement and delayed washout pattern on dynamic contrast enhanced MR images, suggesting suspicious feature.

Reference

1. Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns. 2009; 18:13–27.

2. Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012; 18:400–407.

3. Jung MH. Breast cancer in Cowden cyndrome: a case report. J Korean Soc Radiol. 2009; 60:279–282.

4. Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, et al. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw. 2010; 8:562–594.

5. Sabaté JM, Gómez A, Torrubia S, Blancas C, Sánchez G, Alonso MC, et al. Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations. Eur Radiol. 2006; 16:702–706.

6. Hobert JA, Eng C. PTEN hamartoma tumor syndrome: an overview. Genet Med. 2009; 11:687–694.

7. Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013; 50:255–263.

8. Lloyd KM 2nd, Dennis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. 1963; 58:136–142.

9. Eng C. PTEN hamartoma syndrome. GeneReview at GeneTests: Medical Genetics Information Resource. Updated January 23, 2014. Accessed March 19, 2014. http://www.genetests.org.

10. Melbārde-Gorkuša I, Irmejs A, Bērziņa D, Strumfa I, Aboliņš A, Gardovskis A, et al. Challenges in the management of a patient with Cowden syndrome: case report and literature review. Hered Cancer Clin Pract. 2012; 10:5.

11. Tan WH, Baris HN, Burrows PE, Robson CD, Alomari AI, Mulliken JB, et al. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet. 2007; 44:594–602.

12. Turnbull MM, Humeniuk V, Stein B, Suthers GK. Arteriovenous malformations in Cowden syndrome. J Med Genet. 2005; 42:e50.