The National Comprehensive Cancer Network (NCCN v 3.2019 and v1.2020) guidelines recommend referral to a cancer genetics professional for an individual with personal or family history of one or more of the following:
- > 10 Adenomas
- Any number of adenomas with personal history of desmoid tumor, hepatoblastoma, cribriform-morular variant of papillary thyroid cancer, or multifocal/bilateral Congenital hypertrophy of retinal pigment epithelium (CHRPE)
- > 2 hamartomatous polyps
- Consider referral for fewer hamartomas if present with any of the following:
- Includes hyperplastic polyps, sessile serrated adenomas/polyps, serrated adenomas
- > 5 serrated polyps proximal to the sigmoid colon
- > 20 serrated polyps of any size distributed throughout the colon
- Any number of serrated polyps if family history of serrated polyposis in first degree relative
- > 5 juvenile polyps in colon
- Multiple juvenile polyps throughout GI tract
- Any number of juvenile polyps in individuals with a family history of Juvenile polyposis syndrome (JPS)
- Family history of any blood relative with a known pathogenic/likely pathogenic variant in a cancer susceptibility gene
- Genetic counseling/patient education is highly recommended when genetic testing is offered and when results are disclosed.
- If no pathogenic/likely pathogenic variant is found, consider referral for expert genetics evaluation if not yet performed; testing for other hereditary cancer syndromes may be appropriate.
ᅀ PTEN Hamartoma Tumor syndrome related features can include breast cancer, endometrial cancer, follicular thyroid cancer, ganglioneuromas, macrocephaly, macular pigmentation of glans penis, trichilemmomas, multiple palmoplantar keratosis, multifocal or extensive oral mucosal papillomatosis, multiple cutaneous facial papules, autism, colon cancer, >3 esophageal glycogenic acanthosis, lipomas, intellectual disability (IQ < 75, thyroid lesions (adenomas, nodules, goiter), renal cell carcinoma, testicular lipomatosis, and/or vascular anomalies.
CONDITIONS TO CONSIDER