Table 1 Summary of the clinicopathologic and molecular features: index series of eight dedifferentiated endometrial carcinomas
Age (years) | Histology | Stage | Mismatch repair protein | Mutations in endometrioid component | Mutations in undifferentiated component | BRG1/ BRM | INI1/ BRM | |
|---|---|---|---|---|---|---|---|---|
1 | 54 | 90% Endometrioid grade 1; 10% undifferentiated | 1A | Intact | MSH6 (A25S), PIK3R1 (K567E, R461X), PIK3R2 (R574Q), POLE (M1L, S459F), PTEN (R130L, S59X), SPOP (D140N) | Endometrioid: intact; undifferentiated: intact | Endometrioid: intact; undifferentiated: deficient | |
2 | 55 | 20% Endometrioid grade 2; 80% undifferentiated | 3B | MLH1 and PMS2 loss | ARID1A (f.s.x3, R1749K), CTNNB1 (S33A), FBXW7 (A423T), JAK1 (f.s.), PIK3CA (E545K), POLE (S2231N), PTEN (deletion, f.s.), RPL22 (f.s.) | ARID1A (f.s.x3, R1749K), CTNNB1 (S33A), FBXW7 (A423T), JAK1 (f.s.), PIK3CA (E545K), POLE (S2231N), PTEN (deletion, f.s.), RPL22 (f.s.) | Endometrioid: intact; undifferentiated: intact | Endometrioid: intact; undifferentiated: intact |
3 | 70 | 10% Endometrioid grade 1; 90% undifferentiated | 3C1 | PMS2 loss | ARID1A (f.s.x2), FBXW7 (R399Q), KRAS (A146T), PIK3CA (E545A), POLE (R573L), PTEN (f.s.x2, L139X), SMARCA4 (f.s. C1046R) | Endometrioid: intact; undifferentiated: deficient | Endometrioid: intact; undifferentiated: intact | |
4 | 73 | 10% Endometrioid grade 1; 90% undifferentiated | 1A | MLH1 and PMS2 loss | ARID1A (W1498X), KRAS (G12A), PIK3CA (E545K, V344M), PTEN (K128N), SMARCA4 (f.s., Q756X), SPOP (E50K) | Endometrioid: intact; undifferentiated: deficient | Endometrioid: intact; undifferentiated: intact | |
5 | 66 | 70% Endometrioid grade 1; 30% undifferentiated | 1B | PMS2 loss | ARID1A (f.s., N102S), CTNNB1 (T41A), JAK1 (f.s.x2), MSH2 (f.s.), PIK3R1 (f.s.), PTEN (f.s.), RPL22 (f.s.), SMARCA4 (P327S) | ARID1A (f.s.), JAK1 (f.s.x2), KRAS (G12D), MSH2 (f.s.), PTEN (f.s.), RPL22 (f.s.), SMARCA4 (f.s.x2, R1203C) | Endometrioid: intact; undifferentiated: deficient | Endometrioid: intact; undifferentiated: intact |
6 | 73 | 30% Endometrioid grade 1, 70% undifferentiated | 1B | MLH1 and PMS2 loss | FBXW7 (deletion), HRAS (R68W), JAK1 (f.s., Y412X), PIK3CA (N575K, H1047L), PTEN (Y68X, f.s.), PPP2R1A (R418Q) | FBXW7 (R49P), JAK1 (f.s., Y412X), PIK3CA (N575K, H1047L), PTEN (Y68X, f.s.), PPP2R1A (R418Q) | Endometrioid: intact; undifferentiated: intact | Endometrioid: intact; undifferentiated: intact |
7 | 51 | 60% Endometrioid grade 1; 40% undifferentiated | 3C2 | MLH1 and PMS2 loss | ARID1A (f.s.), JAK1 (f.s.), KRAS (G12V), PIK3R1 (deletion), PTEN (f.s.), RNF43 (f.s.), RPL22 (f.s.) | ARID1A (f.s.), JAK1 (f.s.), KRAS (G12V), PIK3R1 (deletion), POLE (R1284Q), PTEN (f.s.), RNF43 (f.s.), RPL22 (f.s.), SMARCA4 (f.s.), TP53 (R26C) | Endometrioid: intact; undifferentiated: deficient | Endometrioid: intact; undifferentiated: intact |
8 | 46 | 5% Endometrioid grade 2; 95% undifferentiated | 1A | Intact | ARID1A (Q1172X), FGFR2 (E413D), MSH2 (E580X, K918N), PIK3CA (R93W, T1025 * A), PIK3R1 (E217K), PMS2 (R563X, E172A), POLE (V411L), PTEN (E299X), SPOP (K101T), SMARCA4 (R549C) | Endometrioid: intact; undifferentiated: intact | Endometrioid: intact; undifferentiated: deficient |
