RT Book, Section A1 Eng, Charis A2 Murray, Michael F. A2 Babyatsky, Mark W. A2 Giovanni, Monica A. A2 Alkuraya, Fowzan S. A2 Stewart, Douglas R. SR Print(0) ID 1102700929 T1 PTEN Syndromes T2 Clinical Genomics: Practical Applications in Adult Patient Care YR 2014 FD 2014 PB McGraw-Hill Education PP New York, NY SN 9780071622448 LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102700929 RD 2024/03/29 AB Disease summary:The PTEN syndromes or PTEN hamartoma tumor syndromes (PHTS) include all disorders that have germline PTEN mutations.PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome.Typically, PHTS is characterized by hamartomas that can affect derivatives of all three germ layers and a high risk of breast and thyroid cancers. CS is a multiple hamartoma syndrome with a high risk of benign and malignant tumors of the thyroid, breast, and endometrium.BRRS is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the glans penis.PS is a complex, highly variable disorder involving congenital malformations and overgrowth of multiple tissues.Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS.