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PTEN Hamartoma Tumor Syndrome: A Clinical Overview.

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.

Links

Authors+Show Affiliations

Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43221, USA. Robert.pilarski@osumc.edu.

Source

Cancers 11:6 2019 Jun 18 pg

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

31216739

Citation

Pilarski, Robert. "PTEN Hamartoma Tumor Syndrome: a Clinical Overview." Cancers, vol. 11, no. 6, 2019.
Pilarski R. PTEN Hamartoma Tumor Syndrome: A Clinical Overview. Cancers (Basel). 2019;11(6).
Pilarski, R. (2019). PTEN Hamartoma Tumor Syndrome: A Clinical Overview. Cancers, 11(6), doi:10.3390/cancers11060844.
Pilarski R. PTEN Hamartoma Tumor Syndrome: a Clinical Overview. Cancers (Basel). 2019 Jun 18;11(6) PubMed PMID: 31216739.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - PTEN Hamartoma Tumor Syndrome: A Clinical Overview. A1 - Pilarski,Robert, Y1 - 2019/06/18/ PY - 2019/05/09/received PY - 2019/06/13/revised PY - 2019/06/14/accepted PY - 2019/6/21/entrez KW - Bannayan-Ruvalcaba-Riley syndrome KW - PHTS KW - PTEN KW - PTEN harmartoma tumor syndrome KW - cowden syndrome JF - Cancers JO - Cancers (Basel) VL - 11 IS - 6 N2 - 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. SN - 2072-6694 UR - https://www.unboundmedicine.com/medline/citation/31216739/PTEN_Hamartoma_Tumor_Syndrome:_A_Clinical_Overview DB - PRIME DP - Unbound Medicine ER -
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