{"id":27155,"date":"2024-05-26T14:59:51","date_gmt":"2024-05-26T12:59:51","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27155"},"modified":"2025-09-26T10:15:05","modified_gmt":"2025-09-26T08:15:05","slug":"pten-hamartoma-tumor-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/pten-hamartoma-tumor-syndrome\/","title":{"rendered":"PTEN Hamartoma Tumor Syndrome"},"content":{"rendered":"

PTEN Hamartoma Tumor Syndrome \u2013\u00a0Definition<\/h2><\/div>
<\/div><\/div><\/div><\/div>

PTEN hamartoma tumor syndrome (PHTS, OMIM +601728) includes multiple diseases caused by pathogenic variants in the PTEN<\/em> gene, namely Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS), whereby PTEN-associated Proteus syndrome (PS) and Proteus-like syndrome are usually included as well. The clinical symptoms of macrocephaly, gastrointestinal polyposis, lipomas, vascular malformations, and intellectual disability\/autism spectrum disorder characterize PHTS. In addition, there is a predisposition to numerous malignant diseases such as mammary and endometrial carcinoma, colorectal carcinoma, renal cell carcinoma, melanoma, and thyroid carcinoma.<\/p>\n<\/div>

Synonym:<\/p>\n<\/div><\/div><\/div>

<\/div>

–<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Gene:<\/p>\n<\/div><\/div><\/div>

PTEN<\/i><\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div>

PTEN (Phosphatase and Tensin homolog)<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Function:<\/p>\n<\/div><\/div><\/div>

Tumor suppressor: negative regulation of the PI3K\/AKT\/mTOR signaling pathway<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Erb\u00adgang:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Prevalence:<\/p>\n<\/div><\/div><\/div>

1:200,000 for Cowden Syndrome<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

Missense variants and pathogenic variants in the phosphatase region appear to include \u2265 5 organs and therefore have a more severe progression.
\n> 90% of families with overlapping CS\/BRRS have a pathogenic variant PTEN<\/em>.<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Penetrance:<\/p>\n<\/div><\/div><\/div>

Nearly complete
\nAlmost all patients with a pathogenic variant PTEN<\/em> develop at least one manifestation by early adulthood.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

<\/div>
<\/div><\/div><\/div><\/div><\/div><\/div>

Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>