What is PTEN hamartoma tumor syndrome?
PTEN hamartoma tumor syndrome refers to a group of conditions caused by an alteration in the PTEN gene. Clinically, it includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and ASD. Patients with PTEN mutations typically develop benign growths in different organs of their body as well as experience skin lesions, developmental delay, cognitive abnormalities, macrocephaly (enlarged head size) and autism spectrum disorder. Individuals with PTEN mutations may develop some or all of these symptoms in varying degrees of severity. Individuals with PTEN mutations are also at a higher risk for developing some forms of cancer.
Who gets PTEN hamartoma tumor syndrome?
PHTS is a rare disorder. The exact incidence is unknown.
What causes PTEN hamartoma tumor syndrome?
PHTS is caused by a change (mutation) in the PTEN gene. PTEN is a gene that helps control cell growth. When mutated, cells grow out of control and accumulate leading to the formation of tumors.
How is PTEN hamartoma tumor syndrome diagnosed?
PHTS may be suspected based on a number of clinical features. A definitive diagnosis of PHTS is made only when a mutation in the gene is found through genetic testing.
What is the treatment for PTEN hamartoma tumor syndrome?
Effective treatments are available for the management of manifestations. Frequent surveillance for tumor detection and management is recommended. Other treatments, such as behavioral interventions, are also available.