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 (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) |
- Three or more major criteria, but one must include macrocephaly, Lhermitte-Duclos disease, or gastrointestinal hamartomas; or
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- Two major and three minor criteria.
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Operational diagnosis in a family where one individual meets revised PTEN hamartoma tumor syndrome clinical diagnostic criteria or has a PTEN mutation: |
- Any two major criteria with or without minor criteria; or
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- One major and two minor criteria; or
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- Three minor criteria.
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