Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria

Abstract

We propose revised, evidence-based criteria covering the spectrum of PTEN-related clinical disorders. Additional research on clinical features associated with PTEN mutations is warranted.

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

“…This has been found in 80 % of those undergoing evaluation. This lesion combined with colonic polyposis should be considered as pathognomonic for CS [4].…”

“…It is regarded as part of PTEN hamartoma tumor syndrome (PHTS), which includes CS, Bannayan-Riley-Ruvalcaba syndrome, adult Lhermitte-Duclos disease, and autism spectrum disorders associated with macrocephaly [4]. PTEN mutation frequency in individuals meeting the consortium diagnostic criteria has been recently reported to be about 30-35 %.…”

“…CS is only associated with cancer predisposition in PHTS disorder. Approximately 30 % of CS patients are reportedly to be associated with specific cancer types, including breast cancer, thyroid cancer (follicular), endometrial cancer, renal cell carcinoma, and colon cancer [4,5].…”

“…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].…”

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region

“…In a subset of the lesions in this region, the features are predictive of the Table 2 Proposed diagnostic criteria for PTEN hamartoma tumour syndrome [1] a For individual cases an operational diagnosis is made in the presence of 3 major criteria (one must include macrocephaly, adult onset dysplastic gangliocytoma, or gastrointestinal hamartomas); or two major and three minor criteria. Any two major criteria; or one major and two minor criteria; or 3 minor criteria are sufficient for an operational diagnosis in a family where one individual meets the clinical diagnostic criteria or has a PTEN mutation benign skin adnexal tumours possess a smooth or warty surface and range from 2 mm to more than 10 mm [4].…”