Table 2.
Detailed description of endometrial cancers with subclonal abnormal p53 expression.
| Case nr. | Molecular subgroup* | Histotype and grade | % of abnormal p53 expression | DNA isolation in p53 abn area | TP53 mutation detected | Type of mutation | VAF | cDNA change | Amino acid change |
|---|---|---|---|---|---|---|---|---|---|
| 1 | MMRd | G2 EEC | <10% | Unknown | Failed | – | – | – | – |
| 2 | NSMP | G3 EEC | <10% | Unknown | Failed | – | – | – | – |
| 3 | POLEmut | mixed EEC-CCC | <10% | Unknown | No | – | – | – | – |
| 4 | POLEmut | G3 EEC | <10% | No | No | – | – | – | – |
| 5 | POLEmut | other | <10% | No | No | – | – | – | – |
| 6 | MMRd | G3 EEC | <10% | No | No | – | – | – | – |
| 7 | MMRd | G3 EEC | <10% | Yes | No | – | – | – | – |
| 8 | MMRd | G2 EEC | <10% | No | No | – | – | – | – |
| 9 | NSMP | G1 EEC | <10% | Yes | No | – | – | – | – |
| 10 | POLEmut | G3 EEC | <10% | No | Yes | Missense | 0.19 | c.775 G > T | p.Asp259Tyr |
| 11 | POLEmut | G3 EEC | <10% | Unknown | Yes | Nonsense | 0.63 | c.637 C > T | p.Arg213* |
| 12 | POLEmut | G3 EEC | <10% | No | Yes | Missense | 0.38 | c.245 C > T | p.Pro82Leu |
| Missense | 0.22 | c.817 C > T | p.Arg273Cys | ||||||
| Nonsense | 0.40 | c.916 C > T | p.Arg306* | ||||||
| 13 | MMRd | G1 EEC | <10% | No | Yes | Missense | 0.19 | c.524 G > A | p.Arg175His |
| 14 | MMRd | G3 EEC | <10% | No | Yes | Missense | 0.47 | c.524 G > A | p.Arg175His |
| 15 | MMRd | G3 EEC | <10% | No | Yes | Missense | 0.26 | c.526 T > A | p.Cys176Ser |
| Frameshift | 0.14 | c.287delC | p.Ser96LeufsTer27 | ||||||
| 16 | MMRd | G2 EEC | <10% | No | Yes | Missense | 0.27 | c.374 C > T | p.Thr125Met |
| 17 | NSMP | G2 EEC | <10% | Unknown | Yes | Missense | 0.33 | c.743 G > A | p.Arg248Gln |
| 18 | POLEmut | G3 EEC | 20% | No | Yes | Missense | 0.51 | c.827 C > T | p.Ala276Val |
| 19 | MMRd | G3 EEC | 20% | Unknown | Yes | Missense | 0.28 | c.734 G > A | p.Gly245Asp |
| 20 | POLEmut | EEC-SEC | 25% | No | Yes | Nonsense | 0.16 | c.637 C > T | p.Arg213* |
| 21 | MMRd | G3 EEC | 30% | Unknown | Failed | – | – | – | – |
| 22 | MMRd | G3 EEC | 40% | Yes | No | – | – | – | – |
| 23 | POLEmut | G3 EEC | 60% | Unknown | Yes | Nonsense | 0.19 | c.916 C > T | p.Arg306* |
| 24 | MMRd | G3 EEC | 60% | Yes | Yes | Missense | 0.31 | c.536 A > G | p.His179Arg |
| 25 | p53abn | other | 60% | Unknown | Yes | Missense | 0.53 | c.537 T > G | p.His179Gln |
| 26 | MMRd | G3 EEC | 70% | Yes | Yes | Missense | 0.47 | c.536 A > G | p.His179Arg |
| Missense | 0.23 | c.745 A > T | p.Arg249Trp | ||||||
| 27 | p53abn | SEC | 75% | Unknown | Yes | Missense | 0.81 | c.470 T > A | p.Val157Asp |
*Classified as per Leon-Castillo et al., JCO 2020, considering a 10% threshold to assign a tumor as p53abn EC.
POLEmut POLE mutant, MMRd mismatch repair deficient, NSMP no specific molecular profile, p53abn p53-abnormal, EEC endometrioid endometrial cancer, CCC clear cell carcinoma, SEC serous endometrial cancer, VAF variant allele frequency.