Table 1.
Operational Criteria for Cowden Syndrome without Family History of Known PTEN Mutation
| Pathognomonic Criteria |
|---|
| Adult Lhermitte-Duclos disease (cerebellar tumors) |
| Mucocutaneous lesionsa |
| - Facial trichilemmomas, any numbera (at least two biopsy-proven trichilemmomasb) |
| - Acral keratoses |
| - Papillomatous papules |
| Mucosal lesions |
| Autism spectrum disorder and macrocephalyb |
| Major Criteria |
| Breast cancer |
| Thyroid cancer (nonmedullary) |
| Macrocephaly (megalocephaly) (i.e., 97th percentile and above) |
| Endometrial cancer |
| Mucocutaneous lesionsb |
| - One biopsy-proven trichilemmoma |
| - Multiple palmoplantar keratoses |
| - Multifocal cutaneous facial papules |
| - Macular pigmentation of glans penis |
| Multiple GI hamartomas or ganglioneuromasb |
| Minor Criteria |
| Other thyroid lesions (e.g., adenoma, multinodular goiter) |
| Mental retardation (i.e., IQ of 75 and below) |
| Gastrointestinal hamartomasa (single gastrointestinal hamartoma or ganglioneuromab) |
| Fibrocystic disease of the breast |
| Lipomas |
| Fibromas |
| Genitourinary tumors (especially renal cell carcinoma) |
| Genitourinary malformationsa |
| Uterine fibroids |
| Autism spectrum disorderb |
a
Present in this section as defined by ICC criteria only.
b
Present in this section as defined by NCCN 2010 criteria only.