The patient is a 16 year old female with a history of Cowden Syndrome. Review of her previous pathology shows many lesions commonly seen in Cowden Syndrome.
At age 7, the patient underwent right salpingo-oophorectomy.
The ovary shows lobular architecture, extensive sclerosis, prominent vessels and dystrophic calcification, most consistent with sclerosing stromal tumor.
At age 13, the patient had a breast mass which was excised.
Higher magnification of the breast mass shows a fibroepithelial lesion consistent with papilloma with sclerosis.
There is also an adjacent epithelial proliferation with focal atypia. This proliferation focally shows rigid architecture suggestive of atypical ductal hyperplasia.
At age 14, the patient underwent upper and lower endoscopies. A polyp was found within the left colon.
Higher magnification of the same polyp shows that it is a hamartomatous type polyp with features that resemble a juvenile-type polyp. The epithelium is non-dysplastic with mildly dilated glands, while the surrounding stroma is fibrotic.
Two years later, the patient underwent colonoscopy with biopsies again. Two polyps were found within the left colon. Again, the polyps have mildly dilated glands in a slightly fibrotic stroma. These are the types of polyps commonly seen in Cowden Syndrome.
At age 15, the patient has a “cyst” on her left small finger removed.
Microscopically, the lesion is consistent with a cavernous hemangioma.
At age 16 the patient is felt to have “multinodular goiter” and undergoes a total thyroidectomy. Three distinct nodules are found within the thyroid gland.
Multiple adenomatous nodules are found. There is variability in the morphology of the nodules. Some have a predominant macrofollicular pattern, while others have a microfollicular pattern. The dominant nodule in the isthmus has a mixed pattern.
In summary, Cowden Syndrome is an autosomal dominant disease caused by a mutation in the tumor suppressor gene, PTEN. It is characterized by hamartomatous overgrowths of the skin, breast, thyroid, digestive system, genitourinary system, central nervous system, and skeletal system. Patients have an increased risk of developing breast, thyroid, and endometrial cancers.
Contributed by Dr. Rashna Clubwala and Dr. Shamlal Mangray