Abstract
BackgroundWhile fibroadenomas are common in the general population, affecting 10–20% of women, they are rarely early-onset, multiple, and bilateral.Case presentationAn 18-year-old woman presented with a 6 year history of multiple, bilateral breast masses without family history of breast disease. Magnetic resonance imaging (MRI, Fig. 1) of the breasts showed innumerable, bilateral breast masses ranging in size from 0.5 to 4 cm. Two needle biopsies showed fibroadenoma. Although the patient’s family history did not meet National Comprehensive Cancer Network (NCCN) guidelines for genetic testing, it was performed due to the rarity of her presentation. Genetic testing identified a pathogenic mutation in the phosphatase and tensin homolog (PTEN) gene.ConclusionsA germline mutation in PTEN is associated with an increased risk of breast cancer and often occurs as part of Cowden Syndrome. This case highlights the importance of genetic testing in patients with unusual presentations of early-onset, bilateral, and multiple (greater than four) fibroadenomas.
Highlights
While fibroadenomas are common in the general population, affecting 10–20% of women, they are rarely early-onset, multiple, and bilateral.Case presentation: An 18-year-old woman presented with a 6 year history of multiple, bilateral breast masses without family history of breast disease
A germline mutation in phosphatase and tensin homolog (PTEN) is associated with an increased risk of breast cancer and often occurs as part of Cowden Syndrome
This case highlights the importance of genetic testing in patients with unusual presentations of early-onset, bilateral, and multiple fibroadenomas
Summary
This case highlights the importance of genetic testing in patients with unusual presentations of early-onset, bilateral, and multiple (greater than four) fibroadenomas
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
