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Table 3 The number of mutation-bearing CSF samples (total number of investigated CSF samples: 45) per cancer-associated gene (total number of investigated genes: 143)

From: Detection of genes mutations in cerebrospinal fluid circulating tumor DNA from neoplastic meningitis patients using next generation sequencing

Genes

NM (Our cohort)

Lung cancer (COSMIC database)

p-value

ABL1

1/45 (2.22%)

64/5425 (1.18%)

0.417

AKT1

1/45 (2.22%)

63/10898 (0.58%)

0.232

APC

17/45 (37.78%)

200/5979 (3.35%)

< 0.001

ATM

3/45 (6.67%)

288/5300 (5.43%)

0.974

BAP1

1/45 (2.22%)

51/4574 (1.11%)

0.401

BCL9

1/45 (2.22%)

0/2603 (0.00%)

0.017

BRAF

4/45 (8.89%)

596/26989 (2.21%)

0.033

BRCA1

2/45 (4.44%)

122/4786 (2.55%)

0.744

BRCA2

7/45 (15.56%)

156/4753 (3.28%)

< 0.001

CBL

5/45 (11.11%)

69/4871 (1.42%)

0.001

CDH1

1/45 (2.22%)

50/5014 (1.00%)

0.367

CDK4

1/45 (2.22%)

11/4572 (0.24%)

0.111

CDKN2A

14/45 (31.11%)

558/7621 (7.32%)

< 0.001

CSF1R

3/45 (6.67%)

82/4775 (1.72%)

0.044

CTNNB1

3/45 (6.67%)

157/6679 (2.35%)

0.161

DDR2

2/45 (4.44%)

139/6918 (2.01%)

0.231

DNMT3A

2/45 (4.44%)

104/4644 (2.24%)

0.627

EGFR

39/45 (86.67%)

26,099/98618 (26.46%)

< 0.001

ESR1

1/45 (2.22%)

64/4425 (1.45%)

0.484

FBXW7

1/45 (2.22%)

131/5455 (2.4%)

1.000

FGFR2

1/45 (2.22%)

64/5603 (1.14%)

0.407

FGFR3

1/45 (2.22%)

65/6466 (1.01%)

0.369

FGFR4

1/45 (2.22%)

57/4569 (1.25%)

0.436

FLT3

10/45 (22.22%)

103/5948 (1.73%)

< 0.001

GNA11

1/45 (2.22%)

18/4780 (0.38%)

0.163

GNAQ

14/45 (31.11%)

24/5036 (0.48%)

< 0.001

HRAS

2/45 (4.44%)

33/7105 (0.46%)

0.020

IFITM1

2/45 (4.44%)

3/2468 (0.12%)

0.003

JAK2

1/45 (2.22%)

102/6912 (1.48%)

0.490

JAK3

2/45 (4.44%)

88/5176 (1.7%)

0.181

KDR

5/45 (11.11%)

218/5112 (4.26%)

0.060

KIT

3/45 (6.67%)

120/6695 (1.79%)

0.048

KRAS

2/45 (4.44%)

6809/42506 (16.02%)

0.034

MAP2K1

3/45 (6.67%)

58/9328 (0.62%)

0.003

MAP2K2

1/45 (2.22%)

23/4529 (0.51%)

0.212

MLH1

5/45 (11.11%)

36/4969 (0.72%)

< 0.001

MPL

2/45 (4.44%)

39/4946 (0.79%)

0.052

MSH2

3/45 (6.67%)

54/4595 (1.18%)

0.017

MYCN

1/45 (2.22%)

34/4544 (0.75%)

0.293

NF1

1/45 (2.22%)

303/4814 (6.29%)

0.416

NF2

2/45 (4.44%)

51/4865 (1.05%)

0.084

NFE2L2

1/45 (2.22%)

212/5626 (3.77%)

0.881

NOTCH1

11/45 (24.44%)

197/6456 (3.05%)

< 0.001

NRAS

4/45 (8.89%)

128/16010 (0.8%)

0.001

PIK3CA

2/45 (4.44%)

719/16029 (4.49%)

1.000

PTCH1

7/45 (15.56%)

86/5107 (1.68%)

< 0.001

PTEN

27/45 (60.00%)

233/8576 (2.72%)

< 0.001

PTPN11

2/45 (4.44%)

54/5910 (0.91%)

0.066

RB1

2/45 (4.44%)

369/5651 (6.53%)

0.794

RET

3/45 (6.67%)

142/5818 (2.44%)

0.181

SMARCB1

1/45 (2.22%)

31/4968 (0.62%)

0.251

SMO

2/45 (4.44%)

72/5105 (1.41%)

0.136

STK11

2/45 (4.44%)

594/8028 (7.4%)

0.646

TET2

18/45 (40.00%)

90/4349 (2.07%)

< 0.001

TP53

38/45 (84.44%)

4456/11831 (37.66%)

< 0.001

TSC1

3/45 (6.67%)

70/4775 (1.47%)

0.030

TSC2

4/45 (8.89%)

125/4800 (2.6%)

0.032

VHL

9/45 (20.00%)

23/5332 (0.43%)

< 0.001

WT1

2/45 (4.44%)

62/4634 (1.34%)

0.125

  1. The differences between the mutation rates observed in our cohort and those noted in the COSMIC database (https://cancer.sanger.ac.uk) were statistically compared. Significant p-values are marked with bold text