Liquid biopsy of bile for the molecular diagnosis of gallbladder cancer

Figures & data

Table 1. Characteristics of patients with GBCa.

	N = 30
Male/Female	9/21
Median age (range), y	77 (40–90)
Stage I/II/III/IV	6/6/6/12
Median CEA (range), ng/mL	3.08 (0.7–33)
Median CA 19–9 (range), U/mL	21.45 (1–28743)
Median AST (range), U/L	20 (13–270)
Median ALT (range), U/L	14.5 (8–288)
Median γ-GTP (range), U/L	24.5 (10–1372)
Median T-Bil (range), mg/dL	0.77 (0.32–16.85)
Median AMY (range), U/L	67 (38–144)
Median HbA1c (range), %	5.9 (4.9–7.9)
Gallstones	4
Diabetes	3
Hyperlipidemia	9
Anomalous pancreatobiliary ductal junctions	2

Abbreviations: CEA, carcinoembryonic antigen; CA 19–9, carbohydrate antigen 19–9; AST, aspartate aminotransferase; ALT, alanine aminotransferase; γ-GTP, γ-glutamyl transpeptidase, T-bil, total bilirubin; AMY, amylase; HbA1c, hemoglobin A1c

Table 2. GBCa profile.

			Bile									Tissue
No	Stage	Cytology	Gene	Freq	AA	Gene	Freq	AA	Gene	Freq	AA	Gene	Freq	AA	Gene	Freq	AA	Gene	Freq	AA
1	3	class5	TP53	0.06	R121K	TP53	0.06	P138L	MET	0.5	N375S	TP53	0.12	R121K	TP53	0.12	P138L	MET	0.43	N375S
2	4	class5	TP53	0.15	E153K							TP53	0.23	E153K
3	3	class5	TP53	0.05	R148K							TP53	0.15	R148K
4	3	class5	TP53	0.09	R114C							TP53	0.44	R114C
5	1	class5	ERBB2	0.05	D739Y							SMAD4	0.19	R361C
6	1	class2	TP53	0.06	A117D							TP53	0.11	A117D
7	1	class2	TP53	0.06	R114L							TP53	0.11	R114L
8	1	class3		None								MET	0.07	P1246L
9	4	class2		None									None
10	4	class2		None									None
11	4	class2		None									None
12	3	class4		None									None
13	2	class2		None									None
14	3	class2		None									None
15	4	class5	TP53	0.14	G112D								No sample
16	4	class5	TP53	0.06	A117D								No sample
17	4	class5	KRAS	0.13	G12D								No sample
18	4	class5	TP53	0.41	R110L								No sample
19	4	class5	TP53	0.11	S176R								No sample
20	1	class5	ERBB2	0.05	D739Y								No sample
21	4	class2	TP53	0.06	R121T	TP53	0.48	C106Y					No sample
22	3	class2		None									No sample
23	4	class2		None									No sample
24	4	class3		None									No sample
25	2	class5		No sample								TP53	0.27	S176R	TP53	0.06	V177M
26	2	class5		No sample								AR	0.08	D223Y
27	1	class2		No sample								CTNNB1	0.29	T41I
28	2	class5		No sample									None
29	2	class2		No sample									None
30	2	class2		No sample									None

Abbreviations: AA, amino acid; Freq, frequency.

Table 3. Comparison between mutation analysis and cytology with bile.

	Mutation in ctDNA (bile)
Cytology (Class5)	Positive	Negative
Positive	11	0
Negative	3	10

Abbreviation: ctDNA, circulating tumor DNA.

Figure 1. (a) The survival rates of the patients with bile ctDNA positive (solid line) and with bile ctDNA negative (dotted line). The survival rates were not significantly different (P = 0.90). (b) The survival rates of the patients with bile cytology class 5 positive (solid line) and negative (dotted line). The survival rates were not significantly different (P = 0.80).