THE NATIONAL COMPREHENSIVE CANCER NETWORK updated its clinical practice guidelines in oncology for Genetic/Familial High-Risk Assessment: Colorectal.
- For colon cancer, the colonoscopy screening recommendations were changed to “Colonoscopy at age 25-30 y or 2-5 y prior to the earliest colon cancer if it is diagnosed before age 30 y and repeat every 1-2 y” from “Colonoscopy at age 30-35 y (may need to be earlier in some families, depending on ages of cancers observed) every 2-3 y, and then after age 40 y every 1-2 y.”
For extra colonic, 1st sub-bullet was changed to “For endometrial and ovarian cancer, see surveillance for MLH1, MSH2 and EPCAM carriers (See LS-3)” from “Consider prophylactic hysterectomy and BSO in women who have completed childbearing.” - A new clinical testing criteria was added for Lynch Syndrome based on personal and family history: “Consider testing individuals with ≥5% risk of LS on any mutation prediction model (eg, MMRpro, PREMM[1,2,6], MMRpredict).”
- In Juvenile Polyposis Syndrome, a new heading title was added called, “Genetic Testing.”
The following bullet was added and revised: “Clinical genetic testing is recommended with approximately 50% of JPS cases occurring due to mutations in the BMPR1A and SMAD4 genes. If known SMAD4 mutation in family, genetic testing should be performed within the first 6 months of life due to hereditary hemorrhagic telangiectasia (HHT) risk.”
“Hemorrhagic Telangiectasia (HHT)” was added to the table with a recommendation, “In individuals with SMAD4 mutations, screen for vascular lesions associated with HHT.” The initiation age was added: “Within first 6 mo of life.” - In Colonic Adenomatous Polyposis of Unknown Etiology:
Personal history of >10-<100 adenomas: Small adenoma burden manageable by colonoscopy and polypectomy, the sub-bullet for management/surveillance was revised: “Clearing of all polyps is recommended preferable but not always possible.Repeat at short interval if residual polyps are present.”
Personal history of >10- <100 adenomas: Dense polyposis or large polyps not manageable by polypectomy, the management/surveillance was revised: “Subtotal colectomy or proctocolectomy depending on adenoma density and distribution,” and a new bullet was added: “Consider proctocolectomy if there is dense rectal polyposis not manageable by polypectomy.”
For each family history phenotype, “consider” was added to each of the management/surveillance recommendations and a corresponding footnote “b” was added: “There are limited data to suggest definitive recommendations for when to initiate screening or the interval of screening.” - In Peutz-Jeghers Syndrome, MRI was added as a screening procedure option of the small intestine, and age to initiate screening for pancreatic cancer was changed from “25-30 y” to “30-35 y.”
