Table 1.
Testing and clinical diagnosis criteria.
| CS/PHTS testing criteria |
|---|
| Individual from a family with a known PTEN mutation |
| Individual meeting clinical diagnosis criteria for CS/PHTS |
| Individual with personal history of: |
| - BRRS or Lhermitte–Duclos disease or Autism spectrum disorder and macrocephaly or |
| - Two or more biopsy-proven trichilemmomas or |
| - two or more major criteria (one must be macrocephaly) or |
| - Three major criteria without macrocephaly or |
| - One major and > 3 minor criteria or |
| - >4 criteria |
| At-risk individual with a relative with a clinical diagnosis of CS/PHTS or BRRS for whom testing has not been performed (At-risk: any one major criterion or two minor criteria) |
| Clinical diagnosis criteria for CS/PHTS |
| Major criteria: |
| Breast cancer |
| Endometrial cancer |
| Follicular thyroid cancer |
| Multiple gastro-intestinal hamartomas or ganglioneuromas |
| Macrocephaly |
| Macular pigmentation of gland penis |
| Mucocutaneous lesions (one biopsy-proven trichilemmoma, multiple palmoplantar keratosis, multiple or extensive oral mucosal papillomatosis, multiple cutaneous facial papules) |
| Minor criteria: |
| Autism spectrum disorder |
| Colon cancer |
| >3 esophageal glycogenic acanthoses |
| Lipomas |
| Intellectual disability (QI < 75) |
| Papillary or follicular variant of papillary thyroid cancer |
| Thyroid structural lesions |
| Renal cell carcinoma |
| Single gastro-intestinal hamartoma or ganglioneuroma |
| Testicular lipomatosis |
| Vascular 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. |
Testing criteria (Version 2.2016) are defined by National Comprehensive Cancer Network.
Clinical diagnosis criteria have been proposed and revised by Pilarski et al. (2013).