A 32-year-old patient presented to the outpatient breast clinic with a history of breast lumps. Physical examination also revealed clustered papular growth on lips that according to the patient, had been present since childhood.
A 32-year old female patient reported to the outpatient breast clinic with a complaint of multiple tender breast lumps. According to the patient’s history, the breast lumps had been present since several months. Nobody in her family had a history of breast cancer, nor did she have a medical history of her own.
Physical examination of the patient revealed multiple clustered papular growths on the patient’s lips, which she said had been presence since she was a child. Breast examination of the patient showed multiple smooth, firm and mobile lumps in both breasts. A 2 cm, painless and indurated mass was also palpable in the upper medial quadrant of the right breast.
For further evaluation, a mammography was advised which revealed dense breasts with multiple cysts. In addition, magnetic resonance imaging confirmed multiple smaller lesions consistent with papillomas and a mass in the right breast. The lesioned were biopsied and sent for histopathological analysis. The results were consistent with estrogen receptor-positive invasive ductal carcinoma and was negative for human epidermal growth factor receptor 2. Additionally, it also showed multiple intraductal papillomas.
Given the findings of the clinical investigations, the Cowden syndrome was also included in the differentials. To confirm the diagnosis, a genetic testing was performed which showed an inactivating mutation in the tumor-suppressor gene encoding phosphatase and tensin homologue (PTEN), consistent with the Cowden syndrome.
The Cowden Syndrome
The Cowden syndrome is an autosomal dominant PTEN hamartoma syndrome that is associated with an increased risk of cancers, including endometrial, thyroid and breast cancer. Moreover, the syndrome is often associated with oral mucosal papillomas. The syndrome is characterised with multiple non-cancerous tumour-like growths called hamartomas. Almost everyone with the Cowden syndrome develops hamartomas.
The treatment plan included prophylactic mastectomy of the left breast and radical mastectomy of the right breast. Cancer surveillance is also an important focus of the treatment, in addition to genetic counselling for patients with Cowden syndrome.
References
Molière, S., & Mathelin, C. (2020). The Cowden Syndrome. The New England Journal of Medicine, 382(15), e29-e29.
