Page 6 of 9
Colonoscopy: Annually, beginning at age 20-25, or ten years younger than the earliest age of diagnosis in the family, whichever comes first.
(NCCN Version 2.2013) state colonoscopy to be administered two to five years prior to the earliest age of diagnosis in the family, and to repeat every 1-2 years.
For those with MSH-6, NCNN guidelines (NCCN Version 2.2013) state every two to three years beginning at age 30 - 35 and every two years until age 40 and then every one to two years. NCCN does not provide management guidelines for the extracolonic cancers of those with MSH-6. They advise prophylactic hysterectomy and oopherectomy following childbearing years.
For those with PMS-2, NCCN guidelines (NCCN Version 2.2013) state colonoscopy to begin at age 35-40 and continue every two to three years until age fifty. At that time, colonoscopy screening should be followed every one to three years. For those with PMS-2, NCCN guidelines do not provide management guidelines for the extracolonic cancers of those with PMS-2, including recommendation for endometrial cancer.
NCCN did not address screening guidelines for those with EPCAM (TakSTD1) mutations.
NCCN Guidelines reflects: There are data to suggest that aspirin may decrease the risk of colon cancer in LS, however, at this time, the data are not sufficiently robust to make a recommendation for its standard use.
Endometrial Sampling: Annually, beginning between ages 30-35
NCCN states, "There is no clear evidence to support screening for endometrial cancer for LS. However annual office endometrial sampling may be an option."
CA-125: For Ovarian Cancer
NCCN Guidelines state, "However while there may be circumstances where clinicians may find screening helpful, data do not support routine ovarian screening for LS.
Transvaginal Ultrasound/Endometrial Biopsy : For Endometrial and Ovarian Cancer: Annually beginning ages 30-35
NCCN Guidelines state, "Transvaginal ultrasound for ovarian and endometrial cancer has not been shown to be sufficiently sensitive or specific as to support a reommendation, but may be consideration at the Clinician's discretion. Serum Ovarian 125 is an additional screening test with caveats similar to transvaginal ultrasound."
Ultrasonography With Cytology: Annually, beginning at age 25-35
NCCN Guidelines state, "Consider urinalysis starting at 25-30 years old."
Gastroscopy: Annually for individuals with family history of Lynch gastric cancers.
NCCN Guidelines for 2013 state, "There is no clear evidence to support screening for gastric, duodenal, and small bowel cancer for LS. Selected individuals or families or those of Asian descent may consider EGD with extended duodenoscopy (to distal duodenum or small jejunum.)"
Examination and Review: Family History Review, Discussion of LS - Annually
NCCN did not address annual family history review or discussion of Lynch syndrome.
Dermatological Examination: Including Muir-Torre lesions characterized including, but not all inclusive of sebaceous adenomas, sebaceous epithelioma, basal cell epithelioma with sebaceous differentiation, sebaceous carcinoma and squamous cell cancer (keratoacanthoma type.)
NCCN did not address skin cancers.
Colon Resection: For individuals with active colon cancer that cannot be removed by colonoscopy. Subtotal colectomy favored with preferences of patient actively elicited. Consider more extensive colectomy for patients with a strong family history of colon cancer or young age. (<50) NCCN 2.2012
Full Abdominal Hysterectomy and Bilateral Salpingo Oopherectomy: Discuss as an option after childbearing years to deter the high risk of gynecological cancers.
NCCN addressed the above for those with MSH1, MSH2, and MSH6 mutations. It was not addressed for those with EPCAM or PMS2 mutations.
Any Other Screening As Deemed Appropriate By the Physician:
Breast cancer has been identified as an integral component of LS based upon mismatch repair germline mutation factors in breast cancer tissues from family members who are not only at high risk, but, moreover, who had Lynch syndrome cancers, such as involving the colorectum. Breast cancer is exceedingly common in the population and, therein, its occurence in Lynch syndrome families could be due to chance, but importantly, a subset will likely be integrally related to a germline mismatch repair Lynch syndrome mutation is some LS families. Therefore, it would be prudent to mount a screening and management program for Lynch syndrome in those families where breast cancer is believed to be an integral lesion.
NCCN Guidelines stated, "There have been suggestions that there has been an increased risk for breast cancer in LS, however due to limited data, no effective screening techniques have been identified, therefore, no recommendation is possible at this time."
In respect to pancreatic cancers, NCCN Guidelines state: "Despite data reading an increased risk for pancreatic cancer, no effective screening techniques have been identified, therefore, no screening."
Finally, NCCN addressed CNS cancer with: "Annual physical exam starting at 25-30 yrs; no additional screening recommendations have been made.
European studies have evidenced prostate cancer as an integral component of LS based upon mismatch repair germline mutation factors. Annual PSA screenings and prostate examinations are a prudent approach for screening of individuals with the Lynch syndrome.