Abstract
The phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a grouping of related genetic disorders that has been linked to germline mutations in the PTEN gene. These disorders include Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, adult Lhermitte–Duclos disease, and autism spectrum disorders associated with macrocephaly. The majority of the clinical information available on PHTS, however, is related to individuals diagnosed with CS. There is still much to be learned about this disorder, since diagnostic criteria for CS were only established in 1996, before the identification of the PTEN gene, and were based primarily on features seen in cases reported in the existing literature. More recently, however, data from several large series of patients have shown that a number of the clinical features associated with PTEN mutations are either more or less common than previously reported. In addition, we now know that only about 30–35% of patients meeting clinical diagnostic criteria for Cowden syndrome actually have a detectable PTEN mutation. Thus, our understanding of PTEN-related diseases and their management has evolved significantly over time. The United States National Comprehensive Cancer Network (NCCN) has produced and regularly updates practice guidelines which include clinical diagnostic criteria as well as guidelines for PTEN testing and management of patients with mutations. This review will summarize the overall literature on PHTS as well as recent findings which are broadening our understanding of this set of disorders.
Highlights
phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders that have been linked to germline mutations in the PTEN gene
Melanoma is not included as a diagnostic criterion for PTEN hamartoma tumor syndrome (PHTS) and more data are needed regarding its association with PTEN
While initial reports suggesting dermatologic lesions are present in almost 100% of Cowden syndrome (CS) patients are likely overestimates, it is clear that they are a common finding in individuals with PTEN mutations
Summary
PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders that have been linked to germline mutations in the PTEN gene. (1) Three or more major criteria, but one must include macrocephaly, Lhermitte–Duclos disease, or gastrointestinal hamartomas; OR (2) Two major and three minor criteria; Operational Diagnosis in a Family where One Individual Meets Revised PHTS Clinical Diagnostic Criteria or Has a PTEN Mutation:. The National Comprehensive Cancer Network (NCCN) has established criteria for when PTEN testing is indicated based on the clinical features present in a patient, as well as management and screening recommendations for individuals who are found to have a PTEN mutation [16]. As noted above, they have adopted revised clinical diagnostic criteria since patient management is sometimes based on a clinical diagnosis alone if either testing is not possible or it is done but no mutation is found.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
