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Open AccessReview

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43221, USA
Cancers 2019, 11(6), 844;
Received: 9 May 2019 / Revised: 13 June 2019 / Accepted: 14 June 2019 / Published: 18 June 2019
(This article belongs to the Special Issue PTEN: A Multifaceted Tumor Suppressor)
PDF [276 KB, uploaded 18 June 2019]


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. View Full-Text
Keywords: PTEN; PHTS; PTEN harmartoma tumor syndrome; cowden syndrome; Bannayan-Ruvalcaba-Riley syndrome PTEN; PHTS; PTEN harmartoma tumor syndrome; cowden syndrome; Bannayan-Ruvalcaba-Riley syndrome
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Pilarski, R. PTEN Hamartoma Tumor Syndrome: A Clinical Overview. Cancers 2019, 11, 844.

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