This model can be used to predict the likelihood that a person would be found to have a mutation in the PTEN gene, based on the presence or absence of the clinical features listed. Note that four separate models are provided depending on whether the person is in the pediatric or adult age groups, and is male or female. PLEASE NOTE: for males this model only applies to those with macrocephaly.
Pick which of the four models is appropriate. Then, in the “Indicator” column, click the cell to the right of each clinical feature and the arrow that pops up to select “Yes” or “No” from the dropdown menu. The model automatically calculates the risk of having a PTEN mutation based on the clinical features present. The accurate diagnosis of each clinical feature should be confirmed whenever possible.
Benign Skin Lesions: refers to PTEN-related skin lesions (e.g., lipomas, papillomatous papules, trichilemmomas).
Benign GI/Gastrointestinal Lesions: refers to non-adenomatous structural lesions in the GI tract such as hyperplastic or hamartomatous polyps and ganglioneuromas.
Benign Thyroid Lesions: refers only to structural thyroid lesions (e.g. goiter, nodules, adenomas). Functional diseases such as hyper- and hypothyroidism are not included.
Macrocephaly: refers to an occipital-frontal head circumference greater than or equal to the 97th percentile.