Table 4.
Study Number | MSI Result | IHC Result | Age at Diagnosis | FDR with LATs1 | Germline Testing Result | Clinical Interpretation |
---|---|---|---|---|---|---|
1009 | MSI-L | Intact Staining | 59 | Daughter: precancerous colon polyp at age 48 | No MSH6 mutation detected | Presumed sporadic |
1021 | MSI-L | Intact Staining | 59 | No | No MSH6 mutation detected | Presumed sporadic |
1066 | MSI-L | Loss of MLH1/PMS2 MLH1 methylation present | 62 | No | Not performed | Presumed sporadic |
1108 | MSI-L | Intact MLH1, MSH2, MSH6 staining2 | 53 | No |
MSH6
VUS3 |
Uncertain |
1115 | MSI-L | Intact Staining | 52 | No | Insurance denied testing | Uncertain, likely sporadic |
1129 | MSI-L | Intact Staining | 54 | No | Not offered genetic testing4 | Presumed sporadic |
FDR, First Degree Relative; LAT, Lynch Syndrome Associated Tumors (colorectal, stomach, endometrial ovarian, biliary, sebaceous adenomas)
IHC for PMS2 unsuccessful; both tumor and internal positive control lacked staining
VUS, variant of unknown significance
Endometrial cancer was believed to be secondary to the concurrent ovarian granulosa cell tumor