Table 1 Revised PTEN hamartoma tumor syndrome clinical diagnostic criteria
From: A progressive and refractory case of breast cancer with Cowden syndrome
Major Criteria | Minor Criteria |
|---|---|
Breast Cancer | Autism spectrum disorder |
Endometrial cancer (epithelial) | Colon cancer |
Thyroid cancer (follicular) | Esophageal glycogenic acanthoses (>3) |
GI hamartomas | Lipomas (>3) |
-including ganglioneuromas, but excluding hyperplastic polyps; >3 | Intellectual disability (ie. IQ <75) |
Lhermitte-Duclos disease (adult) | Renal cell carcinoma |
Macrocephaly | Testicular lipomatosis |
->97th percentile: 58cm for females, 60 cm for males | Thyroid cancer (papillary or follicular variant of papillary) |
Macular pigmentation of the glans penis | Thyroid structural lesions (eg, adenoma, multinodular goiter) |
Multiple mucocutaneous lesions (any of the following): | Vascular anomalies (including multiple intracranial developmental venous anomalies) |
-Multiple trichilemmomas (>3, at least one biopsy proven) | |
-Acral keratoses (>3 palmoplantar keratic pits and/or acral hyperkeratotic papules) | |
-Mucocutaneous neuromas (>3) | |
-Oral papillomas (particularly on tongue and gingiva), multiple (>3) OR biopsy proven OR |