| 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)
Acralkeratoses (≥3 palmoplantarkeratotic pits and/or acralhyperkeratotic 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 (ie, IQ ≤ 75)
Renal cell carcinoma
Testicular lipomatosis
Thyroid cancer (papillary or follicular variant of papillary)
Thyroid structural lesions (eg, adenoma, multinodular goiter)
Vascular anomalies (including multiple intracranial developmental venous anomalies) |
| Operational diagnosis in an individual (either of the following): |
Operational diagnosis in a family where one individual meets revised PTEN Hamartomatumour syndrome clinical diagnostic criteria or has a PTEN mutation: |
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. |
1. Any two major criteria with or without minor criteria; or
2. One major and two minor criteria; or
3. Three minor criteria. |
