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Table 2 Concurrent result of CSF cytology, CSF ctDNA and neuroimaging findings in patients with MC

From: Evaluating the cerebrospinal fluid ctDNA detection by next-generation sequencing in the diagnosis of meningeal Carcinomatosis

No.CSF immunocytochemistryNeuroimaging findingsConcurrent result of CSF cytologyConcentration of CSF ctDNA (ng/ul)CSF ctDNA gene mutations (mutation frequency)Parenchymal brain metastasis
N01CK7(+), Ki-67(+), ER(−), PR(−)Leptomeningeal enhancement+5.36TP53 R196* (68.55%)
VHL R200W (5.19%)
N02Ki-67(+), CK7(+), ER(−), FR(−)Leptomeningeal enhancement+0.512PTEN K13Q (0.455%)
NOTCH1 (38.86%)
N03Ki-67(+), CEA(−), CK20(−), CK7(−), CK20(−)Leptomeningeal enhancement+0.204PTEN K13Q (0.311%)+
N04Ki-67(+), CEA(+)Leptomeningeal enhancement+2.08TP53 L194R (45.69%)_
N05Not availableLeptomeningeal enhancement_1.17TP53R248Q (1.464%)_
N06Not availableLeptomeningeal enhancement_1.36PTEN R14G (0.204%)_
N07Not availableLeptomeningeal enhancement_0.29TP53 P301Q (0.761%)_
N08CK7 (+)Leptomeningeal enhancement+6.82TP53 C242G (72.914%)_
N09NapsinA (+), CK7(+)Negative+0.144TP53 I195F (89.921%)_
N10Not availableNegative+0.238TP53 F113 V (55.412%)_
N11NapsinA (+), TTF1(+), CK7(+)Negative+5.36TP53 R337C (53.924%)_
N12CK7(+), NapsinA(+), Ki-67(−), TTF1(−), CDX2(−), CD20(−)Leptomeningeal enhancement+1.74EGFR L858R (82.178%)+
N13TTF1(+), NapsinA (+)Negative+3.46EGFR L858R (29.903%)_
N14Not availableLeptomeningeal enhancement_3.52EGFR L858R (33.003%)_
N15Not availableNegative+3.08EGFR L858R (14.159%)_
N16Not availableNegative_25.6EGFR L858R (0.229%)_
N17Not availableLeptomeningeal enhancement+1.65TP53 P301Q (0.482%)_
N18Not availableNegative+2.26EGFR E746_A750del (38.178%)_
N19Not availableLeptomeningeal enhancement_30.6EGFR T790 M (22.61%)_
N20Not availableLeptomeningeal enhancement+2.58TP53 G245S (0.497%)_
N21Not availableNegative+26.6EGFR L858R (78.401%)_
N22NapsinA(+), TTF1(−), Ki-67(−), CEA(+)Negative+1.42EGFR L858R (12.359%)_
N23Not availableNegative+2.76EGFR L858R (24.468%)_
N24Not availableNegative+3.58EGFR L858R (5.535%)_
N25NapsinA(+)Leptomeningeal enhancement+2.92PTEN C136Y (1.431%)_
N26Not availableLeptomeningeal enhancement+7.54EGFR T790 M (6.286%)_
N27CK7(−), Ki-67(−), TTF1(−), NapsinA(−), CK20(−), CDX20(−), CDX2(−), CEA(−), FAP(−)Leptomeningeal enhancement+1.23EGFR L858R (79.739%)+
N28Not availableLeptomeningeal enhancement4.1EGFR L858R (1.606%)+
N29Not availableNegative+3.36PTEN K13Q (0.387%)_
N30Not availableNegative+4.16EGFR L858R (24.22%)_
N31CK7(+), NapsinA(+), Ki-67(−), PR(−), TTF1(−)Leptomeningeal enhancement+4.04EGFR T790 M (5.233%)_
N32Ki-67(−), CEA(+), CK7(+), TTF1(+), CDX2(−), CK20(−), NapsinA(+), ER(−), PR(−)Leptomeningeal enhancement+3.8EGFR L858R (3.74%)_
N33Not availableLeptomeningeal enhancement_1.51PTEN K13Q (0.464%)+
N34Not availableLeptomeningeal enhancement_1.09TP 53 P250L (84.24%)_
N35Not availableLeptomeningeal enhancement_1.42FLT3 Y842C (0.404%)_