Table 3. Discordant cases according to ProMisE subclassfication.
Case | Specimen | Pathology | MMR IHC | POLE | p53 | Initial Assignment | Reassessment | Final ProMisE | Retest |
---|---|---|---|---|---|---|---|---|---|
1 | Diagnostic | CAH + gr 1 EM | intact | no mut | abn | p53 abn | Retest: No POLE mut found | p53 abn | Discordant |
Hysterectomy | gr 1 EM, stage IB | intact | P286S* | abn | POLE EDM | Retest validates | POLE EDM | ||
2 | Diagnostic | gr 2 EM | MSH6 loss | no mut | wt | MMR-D | Retest: Δ to intact | p53 wt | Concordant |
Hysterectomy | gr 2 EM, stage IB | intact | no mut | wt | p53 wt | Retest: confirms intact | p53 wt | ||
3 | Diagnostic | gr 1 EM | MSH2/MSH6 loss | no mut | wt | MMR-D | Retest: changed to intact | p53 wt | Concordant |
Hysterectomy | gr 2 EM, stage IA | intact | no mut | wt | p53 wt | Retest confirms intact | p53 wt | ||
4 | Diagnostic | gr 3 undiff | MSH2/MSH6 loss | P441L | abn | MMR-D | Retest confirms MSH2/MSH6 loss | MMR-D | Concordant |
Hysterectomy | gr 3 SC, stage IB | intact | P441L | abn | POLE EDM | Retest:Δ to MSH2/MSH6 loss | MMR-D | ||
5 | Diagnostic | gr 1 EM | intact | no mut | wt | p53 wt | Retest confirms intact | p53 wt | Discordant |
Hysterectomy | gr 3 EM, stage IB | MLH1/PMS2 loss | no mut | wt | MMR-D | Retest confirms loss of MLH1 | MMR-D | ||
6 | Diagnostic | gr 1 EM | intact | P286R | wt | POLE EDM | Retest validates | POLE EDM | Discordant |
Hysterectomy | gr 1 EM, stage IA | intact | no mut | wt | p53 wt | Retest: No POLE mut found | p53 wt |