The syndrome of the hamartomes by change of gene PTEN includes/understands the Syndrome of Cowden, the Syndrome of Bannayan-Riley-Ruvalcaba, the Syndrome of Protée and the syndrome of Protée-like.

The syndrome of Cowden is a syndrome with multiples Hamartome S and high-risk of benign or malignant tumors of thyroid, center or endometer. The individuals reached have a macrocephaly, trichilemmomes, and papules papillomatous around 20 years. The risk to develop a breast cancer lies between 25 and 50% with an age of diagnosis between 38 and 46 years. The risk to develop a cancer of thyroid is approximately of 10%. The risk to develop a cancer of the endometer lies between 5 and 10%.

The syndrome of Bannayan-Riley-Ruvalcaba associates a macrocephaly, an intestinal polypose, lipomes and pigmented maculae of the nipple of the penis.

The syndrome of Protée includes/understands multiples hamartomes of important size implying several fabrics: conjunctive fabric, épidermique fabric and bone tissue. It appears as of the birth and the hamartomes grow during the life.

The syndrome of Protée-like is used at the individuals whose phenotype resembles the syndrome of Protèe but not answering the criteria of diagnosis this syndrome.

The diagnosis of syndrome of the hamartomes by change of gene PTEN is made only if one change of the Gène PTEN is discovered: 80% in the syndrome of Cowden, 60% in the syndrome of Bannayan-Riley-Ruvalcaba, 20% in the syndrome of Protée and up to 50% in the syndrome of Protée-like.

The consequence of the diagnosis at these individuals is the existence of a risk very increased by the Breast cancer, Cancer of thyroid the, Cancer of the endometer and Cancer of the kidney. The monitoring must start as of the 18 years age.

Sources

• Kevin Mr. Zbuk, Jennifer L Stein, Charis Eng, PTEN Hamartoma Tumor Syndrome in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005