Cowden Syndrome
Cowden syndrome is a hereditary condition caused by inherited variants in the PTEN, BRCA2, and STK11 genes. The most common variant in PTEN causes Cowden syndrome to begin at an early age, but it can also cause lipoma to begin at an older age. A study of Cowden syndrome patients showed that the average age at which lipoma began was 45. Some patients even developed lipoma after the age of 65. The exact mechanism by which mutations in these three genes cause Cowden syndrome is unknown.
Using a Drosophila model, researchers showed that when PTEN was mutated and the protein it encoded for was not produced, there were increased serine/threonine kinase oncogenes (STKs). This increase caused hyperplasia and adenoma of the salivary gland and induced tumorigenesis in epithelial ovarian cancer cells, contributing to lipomas. The disease’s mutation may be due to loss of cell-cycle control of mitochondrial metabolism or alterations to insulin-like growth factor signaling pathways leading to cell proliferation and survival.
