Table 2 Copy number variations of genes related to CDK4 pathway and mutation status of therapeutic targets in mucosal melanoma
CNV status | N = 213 | Genetic mutation of therapeutic targets | ||
|---|---|---|---|---|
N (%) | % (No. positive cases/no. examined cases) | |||
KIT | BRAF | NRAS | ||
≥ 1 CNV | ||||
 CDK4 gain | 100 (47.0) | 7.4 (7/95) | 5.2 (5/96) | 15.7 (11/70) |
  2.5–5 copies | 76 (35.7) | 5.6 (4/71) | 5.6 (4/72) | 19.6 (11/56) |
  5–10 copies | 14 (6.6) | 11.8 (2/14) | 0 (0/14) | 0 (0/10) |
  >10 copies | 10 (4.7) | 10.0 (1/10) | 10.0 (1/10) | 0 (0/4) |
 CCND1 gain | 59 (27.7) | 1.8 (1/56) | 8.9 (5/56) | 10.4 (5/48) |
  2.5–5 copies | 49 (23.0) | 0 (0/46) | 10.9 (5/46) | 112.8 (5/39) |
  5–10 copies | 9 (4.2) | 11.1 (1/9) | 0 (0/9) | 0 (0/8) |
  > 10 copies | 1 (0.5) | 0 (0/1) | 0 (0/1) | 0 (0/1) |
 P16INK4a loss | 123 (57.7) | 9.6 (11/114) | 4.3 (5/115) | 10.5 (9/86) |
 Overall | 174 (81.7) | 7.0 (11/199) | 10.0 (10/200) | 13.7 (21/153) |
≥ 2 CNVs | ||||
 CDK4 gain plusCCND1 gain | 13 (6.1) | 0 (0/12) | 0 (0/12) | 20.0 (2/10) |
 CDK4 gain plus P16INK4aloss | 49 (23.0) | 12.8 (6/47) | 4.2 (2/48) | 12.1 (4/33) |
 CCND1 gain plus P16INK4aloss | 16 (7.5) | 6.3 (1/16) | 0 (0/16) | 15.4 (2/13) |
 Overall | 78 (36.6) | 9.3 (7/75) | 3.9 (3/76) | 14.3 (8/56) |
3 CNVs | ||||
 Overall | 17 (8.0) | 0 (0/16) | 12.5 (2/16) | 0 (0/14) |