PTEN-related diseases share mutations in the PTEN gene and share clinical and radiological manifestations characterised by hamartomas and tumours in various parts of the body. They include 1,2:
When a patient has a PTEN mutation but whose phenotype does not formally fulfil the criteria of a specific PTEN-related disease, they are often described as having a PTEN hamartoma tumour syndrome 1,2.
Pathology
The PTEN (phosphatase and tensin homolog) gene, located on chromosome 10, is a tumour suppressor gene. The product of the PTEN gene is a phosphatase involved in the PI3K/PTEN/AKT pathway that regulates cell division, differentiation, apoptosis and neuronal migration. When PTEN is inactivated due to mutations, there is a resultant elevation of phosphorylated AKT, which in turn promotes cell proliferation and increases cell survival 3.
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