Article

Cowden syndrome: a critical review of the clinical literature.

Department of Internal Medicine and Clinical Cancer Genetics Program, Comprehensive Cancer Center, James Cancer Hospital and Solove Research Institute, Ohio State University, Columbus, OH 43221, USA.
Journal of Genetic Counseling (impact factor: 1.77). 11/2008; 18(1):13-27. DOI:10.1007/s10897-008-9187-7
Source: PubMed

ABSTRACT Cowden syndrome (CS) is a multi-system disease involving hamartomatous overgrowth of tissues of all three embryonic origins and increased risks for thyroid, breast and possibly other cancers. Benign breast, thyroid, uterine and skin lesions are also common. Approximately 80% of patients with CS have an identifiable germline mutation in the PTEN gene. The majority of the existing data on the frequencies of component clinical features have been obtained from compilations of case reports in the literature, many of which predate the establishment in 1996 of consensus diagnostic criteria. Many of these reports also suffer from ascertainment bias which emphasized the dermatologic features of the disease. This paper presents an overview of Cowden syndrome focusing on a critical evaluation of the major literature on the component cancers, benign features, and molecular findings in CS, noting the limitations of the published data.

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Keywords

ascertainment bias
 
Benign breast
 
benign features
 
component cancers
 
component clinical features
 
consensus diagnostic criteria
 
Cowden syndrome
 
critical evaluation
 
emphasized
 
existing data
 
hamartomatous overgrowth
 
identifiable germline mutation
 
molecular findings
 
multi-system disease
 
paper presents
 
PTEN gene
 
published data
 
skin lesions
 
three embryonic origins
 
thyroid
 

Robert Pilarski