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RECOMMENDED SCREENING  (European Screening Guidelines To Be Added Soon)

 

Colonoscopy: Annually, beginning at age 20-25, or ten years younger than the earliest age of diagnosis in the family, whichever comes first for those with MLH1 and hMSH2 mutations.  For MSH6 and PMS2 patients, NCCN guidelines recommend colonoscopy testing beginning at the age of 25-30 or 2-5 years prior to the youngest age of presentation of colorection cancer in the family if diagnosed under the age of 30, and repeat every one to two years.  

European Guidelines recommend every 1-2 years for persons with all affected faulty genes.

NCCN does not provide management guidelines for the extracolonic cancers of those with MSH-6.  They advise prophylactic hysterectomy and oopherectomy following childbearing years.

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 and Ovarian Cancer Screening:

NCCN Guidelines reflect "Prophylactic hysterectomy and bilateral oopherectomy, (BSO) is a risk reducing option that should be considered by women who have completed childbearing;

Patients must be aware that dysfunctional uterine bleeding warrants evaluation;

There is no clear evidence to support screening for endometrial cancer for LS.  However annual endometrial sampling is an option.

Where there may be circumstances in which clinicians find screening helpful, data do not support routine ovarian screening for LS.  Transvaginal ultrasound for ovarian and endometrial cancer has not shown to be sufficiently sensitive or specific as to support a positive recommendation, but may be considered at the clinician's discretion." 

Serum CA-125 is an additional ovarian cancer test with caveats similar to transvaginal ultrasound.

 

Extra Colonic Cancers for MLH6 and PMS2:  The risk of other LS cancers is reportedly low, however due to limited data no screening recommendation is possible at this time.

 

Extra Colonic Cancer Screenings for MLH1 and MSH2

 

Gastric and Small Bowel Cancer:  "There is no clear evidence to support screening for gastric, duodenal, and small bowel cancer for LS.  Selected individuals or families of those of Asian descent  may consider EGD with extended duodenoscopy (to distal duodenum or into the jejunum) every 3-5 years beginning at 30-35 years.

 

Urothelial Cancer:  Consider annual urinalysis starting at 25-30 years.

 

Central Nervous System Cancer:  Annual physical/neuological examination starting at 25-30 years, no additional screening recommendations have been made.

 

Pancreatic Cancer:  Despite data indicating an increased risk for pancreatic cancer, no effective screening techniques have been identified; therefore, no screening recommendation is possible at this time;

 

Breast Cancer:  There have been suggestions there is an increased risk for breast cancer in LS patients, however due to limited data, no screening recommendation is possible at this time.   

 

Prostate Cancer:

European studies have evidenced prostate cancers as an integral component of Lynch syndrome, though the experts believe there is need for more evidence.  LSI recommends annual PSA screenings and prostate exams are a prudent choice for the screening of individuals with the Lynch syndrome.

European Guidelines:  "Until more studies are available, the Mallorca group does not recommend surveillance for prostate cancer in  LS families outside of appropriate research studies (see http://impact-study.co.uk)."

 LSI Recommendation:  Examination and Review: Family History Review, Discussion of LS - Annually

 

LSI Recommendation:   Dermatological Examination for those with a family history of sebaceous or the following cancers of Muir Torre if a family history exists, or a personal history of sebaceous or other tumors as noted below: 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.)

 

LSI Recommendation:  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. 

 

LSI Recommendation: Any Other Screening As Deemed Appropriate By the Physician:

 

LSI Recommendation:  Breast Cancer:

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.

 

Modified 4/10/2014

 

 



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