Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature

Abstract

BackgroundCowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and lung cysts. These latter lesions have been noted in previous Cowden syndrome case reports, but are not included in the diagnostic criteria at this time. To our knowledge, this is the first case of multiple meningiomas in this syndrome. Further studies are therefore warranted to assess the significance of these findings in Cowden syndrome.Case presentationA middle-aged Afro-Caribbean known endometrial carcinoma patient (post surgery and adjuvant radiotherapy), presented with a locally advanced breast carcinoma. She received neoadjuvant chemotherapy followed by a modified radical mastectomy and axillary lymph node clearance. Her past medical history included a sphenoid wing meningioma for which she received definitive external beam radiotherapy. She was also known to have a multinodular goiter, anal polyp and longstanding mucocutaneous lesions. Further workup revealed additional smaller meningiomas, a parotid arteriovenous malformation, a lung cyst and pancreatic lipomas. Overall, consortium criteria were met for the diagnosis of Cowden syndrome. Furthermore, genetic testing identified a pathogenic mutation in the PTEN gene. She will be closely followed with annual clinical examination, dermatologic assessment and screening colonoscopies. She will perform interval whole body contrast enhanced CT for continued surveillance for metastatic disease.ConclusionCowden syndrome is likely to be an under diagnosed condition, but critically important to identify due to its cancer predisposition. When encountering multi-organ tumors, diagnostic criteria for Cowden syndrome should be sought in order to increase the diagnostic rates. Cancer surveillance for carcinoma detection in the early and curative stages remains the most critical aspect of management.

Successful stereotactic radiotherapy of meningiomas in a patient with Cowden syndrome: a case report

“…Increased rate and number of meningiomas in CS has been described in case reports. However meningiomas do not fall under the syndrome's diagnostic criteria due to lack of data and high prevalence in the general population (7,8). CS is rare with an estimated prevalence of 1:200,000 patients; but this figure is likely an underestimation due to under diagnosis (9).…”

Deepening the knowledge of rare diseases dependent on angiogenesis through semantic similarity clustering and network analysis

“…It is also remarkable that cluster 1 has 12 different diseases, each one described with at least one gene except the systemic sclerosis syndrome. This cluster overlaps with clusters 2, 3, 5 and 8 due mainly to Cowden syndrome whose genes connect with A-RDs characterized by the development of tissue tumors (malign or benign), a characteristic phenotype of Cowden syndrome [ 11 ].…”

Hereditary Gastrointestinal Cancer Syndromes: Role of Imaging in Screening, Diagnosis, and Management

“…The combination of colonic polyps and esophageal glycogenic acanthosis is considered pathognomic for Cowden syndrome (1). Hamartomatous lesions in the liver with macroscopic fat, calcifications, and a hemangioma-like pattern of enhancement and hypoattenuating pancreatic and splenic lesions have been described in patients with Cowden syndrome (Fig 15) (68). There is a 20% lifetime risk of colorectal cancer in patients with Cowden syndrome by age 60 years, and it is unclear whether cancer develops from a hamartomatous or adenomatous polyp (34,65).…”