Table 2 Clinical criteria for PTEN hamartoma tumor syndrome as suggested by Pilarski et al.[22]
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) |
|  | o Multiple trichilemmomas (≥3, at least one biopsy proven) |
o Acral keratoses (≥3 palmoplantar keratotic pits and/or acral hyperkeratotic papules) | |
o Mucocutaneous neuromas (≥3) | |
o 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) | |
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. | |