TABLE 1.
Summary for histological diagnosis, expression of MMR proteins and p53, and genomic profile in 36 cases.
| Case no. | Age | Histological diagnosis | MMR | p53 | MSI | TMB | SNV and delins mutations | TCGA type | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TP53 | MLH1 | PMS2 | MSH2 | MSH6 | POLE | POLD1 | TERT | |||||||||
| 1 | 60 | EC (G2) | pro. | wt | Low | High | NSMP | |||||||||
| 2 | 54 | EC (G1) | pro. | wt | Low | U-high | p.Val63Met | c.2389G>T | p.Val411Leu | POLEmut | ||||||
| EC (G2) | Low | U-high | c.2389G>T | p.Val411Leu | ||||||||||||
| 3 | 67 | EC (G2) | pro. | wt | Low | Low | NSMP | |||||||||
| 4 | 68 | EC (G2) | def. | wt | High | High | MMR-d | |||||||||
| 5 | 63 | EC (G2) | pro. | wt | Low | Low | NSMP | |||||||||
| 6 | 64 | EC (G3) | def. | wt | High | High | p.Arg202Cys | MMR-d | ||||||||
| 7 | 59 | EC (G2) | def. | wt | High | High | p.Pro991Leu | MMR-d | ||||||||
| 8 | 55 | EC (G2) | pro. | wt | Low | Low | NSMP | |||||||||
| 9 | 60 | EC (G2) | def. | wt | High | High | p.Phe22fs | MMR-d | ||||||||
| 10 | 61 | EC (G2) | pro. | wt | Low | Low | NSMP | |||||||||
| 11 | 78 | EC (G3) | def. | wt | High | U-high | p.Arg175His | p.Met491fs | MMR-d | |||||||
| 12 | 60 | EC (G2) | pro. | wt | Low | Low | NSMP | |||||||||
| 13 | 55 | EC (G2) | pro. | mt | Low | U-high | p.Arg213* | p.Arg107Trp p.Arg134Gln p.Arg427Cys |
p.Asp758Asn | p.Arg298Gln p.Lys632Arg p.Glu641* p.Glu995Lys |
p.Pro286Ser p.Val411Leu |
p.Ser579Asn c.*334C>T |
POLEmut | |||
| 14 | 65 | EC (G2) | gld. | pro. | mt | Low | Low | p.Arg273Cys | p53mut | |||||||
| solid | pro. | mt | Low | Low | ||||||||||||
| 15 | 68 | EC (G2) | gld. | pro. | wt | Low | Low | c.903+2T>A | NSMP | |||||||
| solid | pro. | wt | Low | High | c.903+2T>A | |||||||||||
| 16 | 55 | EC (G3) | pro. | mt | Low | Low | c.993+1G>T | p53mut | ||||||||
| 17 | 73 | EC (G2) | gld. | pro. | wt | Low | Low | NSMP | ||||||||
| solid | pro. | wt | Low | Low | ||||||||||||
| 18 | 53 | EC (G2) | gld. | def. | wt | High | Low | p.Glu613_Phe614del | p.Arg678Trp | MMR-d | ||||||
| solid | def. | wt | High | U-high | p.Glu613_Phe614del | c.3582+5C>T | p.Arg678Trp | |||||||||
| 19 | 56 | EC (G2) | gld. | pro. | wt | Low | U-high | p.Glu483* | p.Arg1201Gln p.Glu1234* |
p.Pro286Arg | POLEmut | |||||
| solid | pro. | wt | Low | U-high | p.Glu483* | p.Arg240Gln p.Glu1322* |
p.Pro286Arg | |||||||||
| 20 | 51 | DC | EC (G1) | High | High | p.Asp289dup | MMR-d | |||||||||
| De | def. | wt | High | High | p.Ser388Phe | p.Asp289dup | p.Ala288Val | |||||||||
| 21 | 57 | DC | EC (G3) | def. | wt | High | High | p.Lys373fs | p.Ala288Val p.Trp371Cys p.Arg481Gly |
MMR-d | ||||||
| EC (G 1) | High | High | p.Asn287fs | p.Tyr581His | p.Trp371Cys | |||||||||||
| De | High | High | p.Lys373fs | p.Ala69Thr | p.Tyr581His | p.Trp371Cys | ||||||||||
| 22 | 71 | DC | EC (G1) | High | High | p.Ser577Ser p.Trp712* |
MMR-d | |||||||||
| De | def. | wt | High | High | p.Ser577Ser p.Trp712* |
p.Asp1013fs | ||||||||||
| 23 | 64 | SC | pro. | mt | Low | Low | p.Arg249Ser | p53mut | ||||||||
| 24 | 67 | SC | pro. | mt | Low | Low | p.Gly245Ser p.Leu43fs |
p53mut | ||||||||
| 25 | 57 | SC | pro. | mt | Low | Low | p.Arg248Gln | p53mut | ||||||||
| 26 | 63 | SC | Ad | pro. | mt | Low | Low | p.Ile255Ser | p53mut | |||||||
| Spn | Low | Low | p.Ile255Ser | |||||||||||||
| 27 | 72 | SC | def. | mt | High | U-high | p.Arg306* | p.Arg352His c.2466+4C>T |
p53mut/ MMR-d | |||||||
| 28 | 75 | SC | pro. | mt | Low | Low | p.Ser241Phe | p53mut | ||||||||
| 29 | 70 | SC | pro. | mt | Low | Low | p.Gln144* | p53mut | ||||||||
| 30 | 65 | SC | pro. | mt | Low | Low | c.817C>T | p53mut | ||||||||
| 31 | 77 | SC | pro. | mt | Low | Low | p.Ala276Gly | p53mut | ||||||||
| 32 | 80 | CS | pro. | mt | Low | Low | p.Asn239Ser | p53mut | ||||||||
| 33 | 58 | CS | pro. | mt | Low | Low | p.Cys176Phe c.706T>A |
p53mut | ||||||||
| 34 | 63 | CS | Car | pro. | wt | Low | Low | NSMP | ||||||||
| Src | Low | Low | ||||||||||||||
| 35 | 64 | CS | Car | def. | wt | High | High | MMR-d | ||||||||
| Src | High | High | ||||||||||||||
| 36 | 63 | LCNEC | pro. | mt | Low | Low | p.Phe113Ser | p53mut | ||||||||
EC, endometrioid carcinoma; gld., glandular part; solid, solid part; DC, dedifferentiated endometroid carcinoma; CS, carcinosarcoma; SC, serous carcinoma; LCNEC, large cell neuroendocrine carcinoma; De, dedifferentiated part; Ad, adenocarcinoma part; Car, carcinomatous part; Sar, sarcomatous part; Spn, spindle cell part; MMR, mismatch repair protein; MSI, macrisatellite instability; TMB, tumor mutation burden; CNA, copy number alteration; Amp, amplification; SNV, single nucleotide variant; U-high, ultra high; pro., proficient; def., deficient; wt, wild-type; mt, mutation; PLOEmut, POLE, mutation; MMR-d, MMR-deficient; NSMP, no specific molecular profile; p53mut, p53 mutation.