An 18-year-old woman presented with multiple, bilateral breast masses with cyclical discomfort associated with her menses. The first mass developed at age 12 near menarche, with several more masses developing and increasing in size over time. She was otherwise healthy, and family history was notable for nasopharyngeal cancer in her paternal grandfather and brain cancer in a paternal cousin who died at age 6 (Fig. 1).
The family pedigree was significant for nasopharyngeal cancer in a paternal grandfather and brain cancer in a paternal cousin
On physical examination, the breast tissue was nearly replaced by multiple smooth, mobile, non-tender, well circumscribed nodules each measuring 1–2 cm in size, with a 4 cm mass in the outer right breast. She had no lymphadenopathy, trichilemmomas, oral papillomatosis, or acral keratosis. There was keratosis pilaris of the upper arms.
Magnetic resonance imaging of the breasts (Fig. 2) showed innumerable, bilateral breast masses ranging in size from 0.5 to 4 cm, and two fine needle biopsies cytomorphology supported a diagnosis of fibroadenoma (Fig. 3). Alternative diagnoses including phyllodes tumor were considered but not seen on biopsy. This patient did not meet criteria for testing under NCCN guidelines and suspicion for underlying hereditary cancer risk was low. However, a custom 100 gene hereditary cancer panel was ordered (Supplementary Material), for genes such as ATM, BRCA1, BRCA2, and PTEN due to the rarity of early onset, bilateral, and multiple fibroadenomas with limited family history.
Contrast enhanced breast MRI shows innumerable bilateral breast masses ranging from 0.5 to 5 cm in size
Fine needle aspiration with papanicolaou stain, x20. The aspirates were paucicellular and revealed staghorn shaped cohesive clusters of benign ductal cells. Myoepithelial cells were present in association with the ductal clusters and as bare bipolar cells in the background (a). Rare fragments of dense sclerotic stroma were present (b)
Genetic testing identified a pathogenic mutation in the PTEN gene consistent with PTEN hamartoma tumor syndrome. Subsequent genetic testing of both parents was negative, consistent with a de novo mutation in this patient, which occurs in 11–48% of PTEN mutation carriers [10].
After discussion of management options, including excisional biopsy of the largest mass, observation, high risk screening with breast MRI, or risk reducing bilateral mastectomies, this patient opted for surgical risk reduction with bilateral mastectomies and reconstruction in the near future. This decision was based on the high lifetime risk of breast cancer, difficulty with surveillance due to the presence of innumerable masses, and patient’s symptoms.
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Early onset, multiple, bilateral fibroadenomas of the breast: a case report - BMC Blogs Network
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