A case of Cowden syndrome diagnosed from multiple gastric polyposis

Abstract

Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomas in a variety of tissues and this is associated with germline mutations in the phosphatase and tensin homologue (PTEN ) gene, which is the tumor suppressor gene located on chromosome 10q23.3. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal (GI) tract, bones, central nervous system, eyes, and genitourinary tract. Cowden syndrome does not have increased risk of GI malignancy; however, it has an increased risk of breast, thyroid and endometrial cancer development. Here the authors report a rare case of Cowden syndrome incidentally diagnosed from multiple gastric polyposis. A 29-year-old woman presented with multiple gastric polyps. The laboratory results were normal except for mild anemia, with a hemoglobin level of 11.9 g/dL. Esophagogastroduodenoscopy revealed multiple gastric, duodenal polyps and esophageal acanthosis. Colonoscopy revealed possible hamartomatous polyps in the rectum. Under the suspicion of Cowden syndrome, sonography of the thyroid and breasts was carried out, which revealed multiple thyroid masses. Subsequent fine-needle aspiration biopsy revealed the presence of clusters of follicular epithelial cells, and due to the possibility of malignancy, the patient underwent total thyroidectomy. The pathology was reported as invasive follicular carcinoma. A gene study by direct sequencing showed the presence of a PTEN mutation (c.633C > A /p.Cys211*).

Cowden Syndrome Detected by FDG PET/CT in an Endometrial Cancer Patient

“…These hamartomas of CS patients can occur in any of three embryonic germ cell layers, and its origin may be ectodermal, mesodermal, or endodermal [2]. These lesions include trichilemmomas in 80-100 % of CS cases, breast fibroadenomas in 70-76 % of affected women, thyroid abnormalities such as adenomas and multinodular goiters in 40-60 % of CS cases, and gastrointestinal polyps in 35-65 % [4,6].…”

“…The prevalence of CS is between 1 in 200,000 and 1 in 250,000. This syndrome is associated with mutations in the phosphatase and tensin homolog (PTEN) gene, a tumor suppressor gene [2].…”

PTEN Hamartoma Tumour Syndrome:Gastrointestinal Manifestations ofTwo Cases Diagnosed in Singapore

“…There are varied gastrointestinal manifestations of PHTS as detailed in Table 1 [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17], of which upper and lower gastrointestinal tract (GIT) polyposis is most common. PHTS patients are reported to have a wide spectrum of polyp histologies throughout their upper and lower GIT [3,4], with many having more than a single histology [5].…”

“…Gastrointestinal polyposis [2][3][4][5][6][7][8][9][10][11][12] Glycogenic acanthosis [2,8,11,13] Intestinal hyperplasia 14…”

Atypical focal cortical dysplasia in a patient with Cowden syndrome

“…The concurrence of oesophageal glycogenic acanthosis and multiple gastric polyps is associated with Cowden syndrome. [6][7][8] Adult-onset Lhermitte-Duclos disease (LDD), which presents clinically with progressive cerebellar sign and increased intracranial pressure, is also a feature. A dysplastic cerebellar gangliocytoma is now considered to be one of the central nervous system (CNS) pathognomonic criteria by the revised Cowden Syndrome Consortium.…”