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Table 2 Copy number variations of genes related to CDK4 pathway and mutation status of therapeutic targets in mucosal melanoma

From: Frequent genetic aberrations in the cell cycle related genes in mucosal melanoma indicate the potential for targeted therapy

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)
  1. CNV copy number variation