Major criteria | |
Breast cancer | |
Endometrial cancer (epithelial) | |
Thyroid cancer (follicular) | |
Gastrointestinal hamartomas (including ganglioneuromas, but excluding hyperplastic polyps; ≥3) | |
Lhermitte-Duclos disease (adult) | |
Macrocephaly (≥97 percentile: 58 cm for females, 60 cm for males) | |
Macular pigmentation of the glans penis | |
Multiple mucocutaneous lesions (any of the following): | |
Multiple trichilemmomas (≥3, at least one biopsy proven) | |
Acral keratoses (≥3 palmoplantar keratotic pits and/or acral hyperkeratotic papules) | |
Mucocutaneous neuromas (≥3) | |
Oral papillomas (particularly on tongue and gingiva), multiple (≥3) OR biopsy proven OR dermatologist diagnosed | |
Minor criteria | |
Autism spectrum disorder | |
Colon cancer | |
Esophageal glycogenic acanthosis (≥3) | |
Lipomas (≥3) | |
Mental retardation (i.e., IQ ≤ 75) | |
Renal cell carcinoma | |
Testicular lipomatosis | |
Thyroid cancer (papillary or follicular variant of papillary) | |
Thyroid structural lesions (e.g., adenoma, multinodular goiter) | |
Vascular anomalies (including multiple intracranial developmental venous anomalies) | |
Operational diagnosis in an individual (either of the following) | |
1. Three or more major criteria, but one must include macrocephaly, Lhermitte-Duclos disease, or gastrointestinal hamartomas; or | |
2. Two major and three minor criteria | |
Operational diagnosis in a family where one individual meets revised PTEN hamartoma tumor syndrome clinical diagnostic criteria or has a PTEN mutation | |
1. Any two major criteria with or without minor criteria; or | |
2. One major and two minor criteria; or | |
3. Three minor criteria |