Clinical risk of relapse* | Molecular groups† | Total | Total discordant | ||||
POLE/ultramutated-like | MSI/hypermutated-like (MMR deficient) | TP53-mutated classified | Not otherwise classified | Undefined‡ | |||
Low | 2 | 10 | 5 | 19 | 4 | 40 (100%) | 5 (13%) |
Intermediate | 1 | 5 | 1 | 13 | 1 | 21 (100%) | 1 (5%) |
High-intermediate | 0 | 4 | 1 | 5 | 1 | 11 (100%) | 9 (82%) |
High | 1 | 14 | 15 | 9 | 1 | 40 (100%) | 24 (60%) |
Advanced/metastatic | 0 | 1 | 8 | 0 | 0 | 9 (100%) | – |
Undefined | 0 | 1 | 0 | 3 | 0 | 4 (100%) | – |
Total | 4 (100%) | 35 (100%) | 30 (100%) | 49 (100%) | 7 (100%) | 125 (100%) | 39 (31%) |
Tumors with a mutation within the POLE exonuclease domain were classified as POLE/ultramutated-like; other tumors with a loss of expression of one of the MMR couple were classified as MSI/hypermutated-like (MMR deficient); others tumors with mutation within the TP53 coding sequence were classified as TP53-mutated classified tumors; all other tumors were classified as not otherwise classified tumors. Note that the advanced/metastatic group does not formally belong to the clinical risk of relapse classification but is denoted here for the sake of clarity.
*Based on ESMO-ESGO-ESTRO consensus.3 4
†Molecular classification based on targeted sequencing combined with MMR system immunostaining—see Methods.
‡“Undefined tumors” refers to unclassified tumors because of technically uninformative MMR system immunostaining (technical failure, see Table 1 and online supplementary Table S1).
ESMO-ESGO-ESTRO, European Society for Medical Oncology-European Society of Gynaecological Oncology-European SocieTy for Radiotherapy & Oncology; MMR, mismatch repair system; MSI, microsatellite instability.