No. | Recommendation | GoR | LoE | Sources |
---|---|---|---|---|
10.5 | If at least one criterion of the revised Bethesda criteria has been met, the (molecular) pathology of the tumor tissue must be investigated further for changes typical for Lynch syndrome. This includes investigating the immunohistochemical expression of DNA mismatch repair proteins, microsatellite analysis and possibly the methylation of MLH1 promoters. | A | 3 | 84 , 87 , 88 , 89 , 100 |
10.6 | A (molecular-)pathological examination for Lynch syndrome in tumor tissue should be carried out in patients under the age of 60 in whom an endometrial carcinoma is diagnosed. | B | 3 | 84 , 87 , 88 , 89 , 100 , 104 |
10.6.1 | It is still a matter of controversy whether these examinations of tumor material require medical information and counseling to be provided and consent to be given in accordance with the requirements of the law on genetic diagnosis. Until an authoritative interpretation of the gene diagnosis law relative to Lynch syndrome screening in endometrial carcinoma tumor material becomes available, the appropriate information and consent in accordance with the genetic diagnosis law should be ensured before the above molecular-pathological analyses of tumor material are carried out. |
EC | ||
10.7 | In patients from families in which the Amsterdam criteria are met, but whose tumor tissue does not show the abnormalities typical of Lynch syndrome, Lymph syndrome is not excluded. For further assessment and additional diagnosis if appropriate, genetic counseling should therefore be carried out. |
EC |