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Table 1 Demographic data of 29 patients and next-generation sequencing results of different samples

From: Different next-generation sequencing pipelines based detection of tumor DNA in cerebrospinal fluid of lung adenocarcinoma cancer patients with leptomeningeal metastases

patient ID

Age(years)

Sex

Mutations detected by NGS in different Sample types (mutation allele fractions)

EGFR status in primary tumor by ARMS

plasma ctDNA

CSF cfDNA

CSF cell

FFPE of primary cancer

#1

59

M

EGFR L747_E749del (42.5%)

EGFR L747_E749del (98.1%)

EGFR L747_E749del (37.8%)

EGFR L747_E749del (29.2%)

EGFR wild-type

#2

54

F

No mutation

ALK G689R (1.0%)

No mutation

EGFR L858R (18.8%)

EGFR L858R

#3

70

M

No mutation

No mutation

No mutation

No mutation

EGFR wild-type

#4

53

M

No mutation

EGFR E746_A750del (44.2%); TP53 R158L (97.8%)

EGFR E746_A750del (43.6%); TP53 R158L (77.0%)

EGFR E746_A750del (67.4%); TP53 R158L (40.0%)

Not available

#5

73

F

No mutation

EGFR L858R (34.4%)

ALK G689R (1.2%); EGFR L858R (7.3%)

EGFR L858R (24.1%)

Not available

#6

54

M

FGFR1 R455H (46.8%)

EGFR E746Valfs (7.3%), P753Rfs (11.4%); FGFR1 R455H (33.4%)

EGFR E746Valfs (5.9%), P753Rfs (6.1%);

Not available

EGFR wild-type

#7

48

F

EGFR G719S (0.3%)

EGFR L858R (5.3%)

EGFR L858R (2.4%)

Not available

EGFR L858R

#8

60

F

No mutation

No mutation

No mutation

Not available

Not available

#9

35

M

EGFR G719S (0.1%)

KRAS Q61L (0.1%); TP53 W53* (85.5%)

TP53 W53* (45.1%)

Not available -

Not available

#10

72

F

No mutation

EGFR L858R (51.8%)

EGFR L858R (3.8%)

Not available

EGFR L858R

#11

50

F

No mutation

EGFR L858R (41.1%); TP53 D228Valfs (87.9%)

EGFR L858R (10.7%); TP53 D228Valfs (12.8%)

Not available

EGFR L858R

#12

54

F

No mutation

TP53 V272 M (77.3%); EGFR E746_A750del (25.1%)

TP53 V272 M (26.1%); EGFR E746_A750del (19.0%)

Not available

EGFR 19del

#13

55

M

No mutation

EGFR E746_A750del (19.2%)

Not available

EGFR E746_A750del (43.2%)

EGFR 19del

#14

46

M

No mutation

No mutation

Not available

EGFR E746_A750del (88.0%)

EGFR 19del

#15

60

M

EGFR T263P (0.19%)

EGFR L858R (52.7%)

Not available

Not available

EGFR L858R

#16

67

F

No mutation

No mutation

Not available

No mutation

EGFR wide-type

#17

55

F

No mutation

No mutation

Not available

EGFR E746_A750del (48.0%); TP53 T125 M (60%)

EGFR 19del

#18

69

M

No mutation

No mutation

Not available

Not available

EGFR wide-type

#19

43

F

No mutation

Not available

EGFR E746_A750del (1.2%)

Not available

EGFR 19del

#20

48

F

No mutation

Not available

Not available

No mutation

EGFR wide-type

#21

72

F

EGFR E746_A750del (17.8%)

Not available

Not available

EGFR E746_A750del (2.7%)

EGFR 19del

#22

49

F

No mutation

Not available

Not available

EGFR E746_A750del (52.4%)

EGFR 19del

#23

49

F

TP53 N268 fs* (22.7%)

Not available

Not available

EGFR E746_A750del (34.3%); TP53 N268 fs* (20.8%)

Not available

#24

67

F

No mutation

Not available

Not available

No mutation

EGFR wide-type

#25

68

F

EGFR E746_A750del (0.6%)

Not available

Not available

EGFR E746_A750del (88.4%)

EGFR 19del

#26

43

F

No mutation

Not available

Not available

No mutation

EGFR wide-type

#27

66

M

No mutation

Not available

Not available

TP53 R280S (38.7%)

EGFR L858R

#28

72

M

No mutation

Not available

Not available

EGFR L858R (27.6%)

EGFR L858R

#29

71

F

No mutation

Not available

Not available

No mutation

EGFR 19del

Total Tests

29

18

13

19

24