PTEN Hamartoma tumor syndrome and differential diagnosis [16 genes]

PTEN hamartoma tumor syndrome (PHTS) is an uncommon group of genetic diseases. It is characterized by the presence of hamartomas (benign tumors caused by anomalous tissue growth), overgrowth and increased risk of malignant neoplasms, particularly of the breast, thyroid, endometrium, kidney, and colon. Other manifestations include macrocephaly, intellectual disability, mucocutaneous lesions, intestinal polyps, benign thyroid alterations, and vascular malformations.

The spectrum of PHTS encompasses Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and PTEN-related Proteus-like syndromes, all of which show a wide clinical variability and significant predisposition to tumors.

• 1-9/100,000 individuals (ORPHA:306498)

The PTEN Hamartoma Tumor Syndrome NGS Panel allows confirming molecular diagnosis and guiding clinical management and personalized follow-up, since the detection of one mutation allows establishing specific oncologic monitoring programs for tumor prevention and early detection; it enables familial genetic counseling and optimizes diagnostic resources, enhancing diagnostic accuracy and reducing costs and time.

Service indicated upon suspicion of the disease.