PTEN Hamartoma Tumor Syndrome
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering full Rare Disease reports to visitors who register on our website, for free. If you have already registered or if you are a subscriber, clicking the link to view the full report will give you an opportunity to log in. You will also be able to register or to reset your password. Registration is free and we do not share your information with anyone else, but you are limited to two full reports a day.
NORD is very grateful to Charis Eng, MD, PhD, Chair and Director, Genomic Medicine Institute, and Director, Center for Personalized Genetic Healthcare, Cleveland Clinic; Professor and Vice Chairman, Department of Genetics, Case Western Reserve University School of Medicine, and Jessica Mester, MS, CGC, Cleveland Clinic Genetic Counselor and PTEN Study Coordinator for assistance in the preparation of this report.
Synonyms of PTEN Hamartoma Tumor Syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Cowden disease
- Cowden syndrome
- multiple hamartoma syndrome
- proteus-like syndrome
The PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by mutations of the PTEN gene. These disorders are characterized by multiple hamartomas that can affect various areas of the body. Hamartoma is a general term for benign tumor-like malformation composed of mature cells and tissue normally found in the affected area that have grown in a disorganized manner.
Individuals with a variety of clinical diagnoses who ultimately have been found to carry a germline PTEN mutation as the underlying cause are said to have PHTS. When the strictest diagnostic criteria are used, patients with a personal and family history of Cowden syndrome (CS) features have up to an 85% chance to have a PTEN mutation. Patients with features of Bannayan-Riley-Ruvalcaba syndrome (BRRS) and with features reminiscent of but not meeting diagnostic criteria for Proteus syndrome (called Proteus-like syndrome) have also been found to have an underlying PHTS diagnosis. Recently a mutation risk calculator has been developed which can estimate the risk for adults to have a PTEN mutation based on their personal history characteristics; this tool is available online at http://www.lerner.ccf.org/gmi/ccscore/.
Once thought to be completely separate conditions, patients with features of CS or BRRS and an underlying PTEN mutation are unified as all having PHTS, with CS being a diagnosis traditionally given to adults and BRRS being first described in the pediatrics literature. This makes sense given that many of the characteristics first associated with CS tend to not appear until adulthood. PHTS is inherited as an autosomal dominant trait, which means it can be passed down in a 50-50 fashion. The symptoms vary greatly from patient to patient, even among individuals in the same family. For more information on Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome, see NORD's individual reports on these disorders in the Rare Disease Database.
Organizations related to PTEN Hamartoma Tumor Syndrome
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 2007, 2012
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.