\"PTEN Hamartoma Tumor Syndrome\" \u2013\u00a0What Is It?<\/h2><\/div>
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PTEN hamartoma tumor syndrome (PHTS) comprises several diseases based on pathogenic variants<\/span>, i.e., genetic changes in the PTEN <\/em>gene. Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS) are these diseases. In most cases, PTEN-associated Proteus syndrome (PS) and Proteus-like syndrome are also included. Clinically, PHTS is characterized by a large head circumference (macrocephaly), numerous polyps in the gastrointestinal tract, benign fatty tissue tumors, vascular malformations, and mental retardation\/disorders from the autistic spectrum. There is also an increased risk of numerous malignant diseases such as breast and endometrial cancer, bowel, kidney, skin, and thyroid cancer.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>
Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>
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PTEN Hamartoma Tumor Syndrome \u2013 What Is It? (This Section)<\/div><\/li><\/ul><\/div><\/div>