PTEN hamartoma tumor syndrome (PHTS) is a group of rare syndromes that result from mutations in the PTEN gene, a gene that normally stops cells from growing and dividing uncontrolled (“suppressor genes”). These other syndromes are Cowden syndrome, Bannayan-Tiley-Ruvalcaba syndrome and Proteus syndrome.
Common factors among these syndromes are the increased formation of hamartomas (an overgrowth of otherwise normally occurring cells within an organ), and an increased risk of other — usually benign — tumors of the breast, thyroid, and endometrium.
The syndrome may cause macrocephaly (an abnormally large head), some developmental delay and autism spectrum disorders. Other individuals will have no such developmental difficulties and can lead normal lives.
The syndrome is difficult to diagnose, requiring genetic screening. Once it is discovered, regular screening for breast, thyroid, kidney, uterine, colorectal cancers and melanoma will be prescribed.