Table 2.
Tumour mutation burden and SNV/indel by POLE mutation location and tumour MSI status in TCGA endometrial cancers
| ECs with hotspot POLE mutations | ECs with non‐hotspot POLE EDMs | ECs with POLE non‐EDMs | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | MSS | MSI | Total | MSS | MSI | Total | MSS | MSI | MSI‐POLEwt ECs | MSS‐POLEwt ECs | |
| n = 41 | n = 37 | n = 4 | n = 18 | 4,0 | n = 14 | n = 23 | n = 6 | n = 17 | n = 127 | n = 321 | |
| Tumour mutational burden | |||||||||||
| Median (range) | 268.0 (37.5–791.9) | 262.8 (37.5–791.9) | 339.0 (237.7–550.1) | 164.4 (1.1–530.4) | 27.3 (1.1–262.9) | 207.1 (26.9–530.4) | 42.8 (1.7–452.9) | 4 (1.7–236.2) | 48.5 (17.4–452.9) | 21.5 (0.0–150.5) | 2.1 (0.3–59.0) |
| ≥ 100 mut/Mb (%) | 33 (80.5) | 29 (78.4) | 4 (100) | 10 (55.6) | 1 (25) | 9 (64.3) | 7 (30.4) | 1 (16.7) | 6 (35.3) | 1 (0.8) | 0 (0) |
| Percentage of C:G>A:T | |||||||||||
| Median (range) | 32.5 (4.3–45.2) | 33.0 (16.0–45.2) | 20.0 (4.3–32.5) | 20.2 (6.9–46.9) | 27.0 (21.4–46.7) | 10.8 (6.9–46.9) | 10.8 (3.9–32.3) | 16.9 (5.0–32.3) | 9.9 (3.9–28.1) | 9.1 (0.0–23.2) | 13.5 (2.8–27.6) |
| Proportion ≥ 20% (%) | 37 (90.2) | 35 (94.6) | 2 (50) | 9 (50) | 4 (100) | 5 (35.7) | 4 (17.4) | 2 (33.3) | 2 (11.8) | 1 (0.8) | 25 (7.8) |
| Percentage of C:G>G:C | |||||||||||
| Median (range) | 0.3 (0.2–0.6) | 0.3 (0.2–0.6) | 0.3 (0.2–0.6) | 0.5 (0.2–9.5) | 0.7 (0.3–9.5) | 0.5 (0.2–2.0) | 1.0 (0.2–26.1) | 5.0 (0.3–26.1) | 0.9 (0.2–2.0) | 1.5 (0.0–8.8) | 8.9 (0.0–47.7) |
| Proportion < 0.6% (%) | 37 (90.2) | 34 (91.9) | 3 (75) | 11 (61.1) | 2 (50) | 9 (64.3) | 6 (26.1) | 1 (16.7) | 5 (29.4) | 5 (3.9) | 2 (0.6) |
| Percentage of C:G>T:A | |||||||||||
| Median (range) | 43.6 (26.2–77.4) | 40.7 (26.2–63.1) | 58.3 (50.8–77.4) | 52.1 (35.2–77.7) | 50.9 (35.2–55.3) | 52.1 (40.9–77.7) | 45.9 (20.5–77.7) | 47.2 (21.0–70.2) | 44.6 (20.5–77.7) | 46.0 (0.0–79.9) | 47.9 (4.7–85.5) |
| Percentage of T:A>A:T | |||||||||||
| Median (range) | 1.1 (0.5–1.7) | 1.1 (0.5–1.6) | 1.4 (0.8–1.7) | 1.5 (0.7–4.8) | 1.3 (1.1–4.8) | 1.5 (0.7–3.4) | 2.4 (1.1–6.8) | 4.3 (1.1–6.8) | 2.3 (1.1–5.9) | 1.9 (0.0–8.2) | 4.5 (0.0–12.4) |
| Percentage of T:A>C:G | |||||||||||
| Median (range) | 8.9 (5.2–29.5) | 8.4 (5.2–29.5) | 10.7 (7.4–11.8) | 8.9 (3.1–15.1) | 7.9 (4.6–12.1) | 9.5 (3.1–15.1) | 11.8 (9.2–52.2) | 10.7 (9.2–11.8) | 12.1 (9.5–52.2) | 11.7 (2.4–100.0) | 9.3 (1.3–30.3) |
| Percentage of T:A>G:C | |||||||||||
| Median (range) | 12.8 (2.9–21.7) | 13.0 (4.0–21.7) | 5.1 (2.9–7.0) | 2.3 (0.6–11.7) | 6.0 (3.2–11.7) | 1.6 (0.6–5.8) | 1.6 (0.6–20.5) | 1.8 (1.2–20.5) | 1.6 (0.6–4.5) | 1.4 (0.0–8.0) | 3.9 (0.0–13.1) |
| Proportion ≥ 4% (%) | 38 (92.7) | 36 (97.3) | 2 (50) | 6 (33.3) | 3 (75) | 3 (21.4) | 3 (13.0) | 2 (33.3) | 1 (5.9) | 6 (4.7) | 154 (48.0) |
| Percentage of small indels | |||||||||||
| Median (range) | 0.5 (0.2–6.0) | 0.5 (0.2–6.0) | 2.8 (1.8–4.0) | 5.2 (0.4–35.5) | 1.5 (0.4–3.2) | 6.7 (0.9–35.5) | 9.5 (0.4–35.1) | 8.9 (0.4–9.7) | 14.5 (1.9–35.1) | 24.8 (0.0–40.2) | 7.4 (0.0–80.9) |
| Proportion < 5% (%) | 39 (95.1) | 35 (94.6) | 4 (100) | 8 (80) | 4 (100) | 4 (28.6) | 4 (17.4) | 1 (16.7) | 3 (17.6) | 3 (2.4) | 76 (23.7) |