Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue

Table 1 Inclusion and exclusion criteria

Inclusion criteria	Exclusion criteria
Patients over the age of 18 yr, male or female	Contraindications to perform digestive endoscopy
Cystic tumor of the pancreas > 15 mm to benefit from a puncture under EUS control to determine the etiological and gravity diagnosis.	Hemorrhagic disease, hemostasis or coagulation disorder (PR < 60%, APTT > 40 s or platelets < 60000/mm3).
	No transient shutdown of AVK, AOD or AAP
Complete clinical examination
Patients able to follow and understand the study and answer the questionnaire
	Pregnant or lactating women (a urine pregnancy test was carried out in women of childbearing age)
Informed and written consent	Vulnerable persons: deprived of liberty or guardianship
Affiliation to a social security

APTT: Activated partial thromboplastin time; EUS: Endoscopic ultrasound; PR: Prothrombin ratio.

Table 2 Pathologic features of surgical resections and mutational analysis of cystic fluid and neoplastic tissue

Final diagn-osis	Pat. code	Gender	Age	Status	Sample	Proportion of mutated allele								Patholo-gical feature-s
						KRAS	GNAS	TP53	RAF1	PTPRD	CTNNB1	RNF43	POLD1
Cancer	1	F	73	No mutatio-n	CF	-	-	-	-	-	-	-	-	MCN with invasive ADK
					NT	-	-	-	-	-	-	-	-
Cancer	9	M	72	Noncon-cordant mutatio-ns	CF	0	-	-	0	0	-	-	-	IPMN with invasive adenoca-rcinoma pT2N1
					NT	100	-	-	26	100	-	-	-
Cancer	10	F	60	Conc-ordant mutatio-ns	CF	5	-	-	-	-	-	-	50	IPMN with invasive adenoca-rcinoma pT3N1
					NT	0	-	-	-	-	-	-	24
Cancer	13	M	66	Concor-dant mutatio-ns	CF	3	-	1	-	-	-	-	-	IPMN with invasive adenoca-rcinoma pT3N1
					NT	35	-	22	-	-	-	-	-
Cancer	14	M	63	Concor-dant mutatio-ns	CF	-	37	-	-	-	-	-	-	MCN with invasive ADK
					NT	-	19	-	-	-	-	-	-
Cancer	15	M	83	Concor-dant mutatio-ns	CF	32	50	-	-	-	-	-	-	IPMN with focal adenoca-rcinoma pTisN0
					NT	9	19	-	-	-	-	-	-
Cancer	17	F	71	Concor-dant mutatio-ns	CF	25	48	-	-	-	56	-	-	IPMN with focal adenoca-rcinoma pTisN0
					NT	21	42	-	-	-	37	-	-
Cancer	18	M	82	Concor-dant mutatio-ns	CF	41	-	-	-	-	-	39	-	IPMN with focal adenoca-rcinoma pTisN0
					NT	32	-	-	-	-	-	35	-
Cancer	19	F	67	Concor-dant mutatio-ns	CF	23	-	31	-	-	-	-	-	MCN with invasive ADK
					NT	0	-	18	-	-	-	-	-
NO Cancer	2	M	86	No mutatio-n	CF	-	-	-	-	-	-	-	-	IPMN with low-grade dysplasi-a
					NT	-	-	-	-	-	-	-	-
NO Cancer	3	M	75	No mutatio-n	CF	-	-	-	-	-	-	-	-	Serous cystaden-oma
					NT	-	-	-	-	-	-	-	-
NO Cancer	4	F	66	No mutatio-n	CF	-	-	-	-	-	-	-	-	IPMN with low-grade dysplasi-a
					NT	-	-	-	-	-	-	-	-
NO Cancer	8	F	81	No mutatio-n	CF	-	-	-	-	-	-	-	-	Mucinou-s cystaden-oma
					NT	-	-	-	-	-	-	-	-
NO Cancer	16	M	63	No mutatio-n	CF	-	-	-	-	-	-	-	-	Cystic lymphan-gioma
					NT	-	-	-	-	-	-	-	-
NO Cancer	6	M	71	Nonconc-ordant mutatio-ns	CF	12	31	-	-	-	-	-	-	IPMN with low-grade dysplasi-a
					NT	0	0	-	-	-	-	-	-
NO Cancer	5	M	74	Concor-dant mutatio-ns	CF	41	12	-	-	-	-	-	-	IPMN with low-grade dysplasi-a
					NT	31	0	-	-	-	-	-	-
NO Cancer	20	M	51	Concor-dant mutatio-ns	CF	-	26	-	-	-	-	-	-	IPMN with low-grade dysplasi-a
					NT	-	7	-	-	-	-	-	-

ADK: Adenocarcinoma; CF: Cystic fluid; IPMN: Intraductal papillary mucinous neoplasm; LGD: Low-grade dysplasia; MCN: Mucinous cystadenoma; NT: Neoplastic tissue; pTis: Carcinoma in situ, invasion of lamina propria.

Table 3 KRAS/GNAS mutations in cystic fluid and final diagnosis

KRAS/GNAS mutations analysis in cystic fluid, n = 17	Cancer	No cancer
Positive mutations (+)
Population size, n	7	3
Patient codes	True positive: 10, 13, 14, 15, 17, 18, 19	False positive: 5, 6, 20
Negative mutations (-)
Population size, n	2	5
Patient codes	False negative: 1, 9	True negative: 2, 3, 4, 8, 16
Total population, n	9	8

Table 4 RAF/PTPRD/CTNNB1/RNF43/POLD1/TP53 mutations in cystic fluid and final diagnosis

RAF/PTPRD/CTNNB1/RNF43/POLD1/TP53 mutations in cystic fluid, n = 17	Cancer	No cancer
Positive (+)
Population size, n	5	0
Patient codes	True positive: 10, 13, 17, 18, 19	False positive
Negative mutations (-)
Population size, n	4	8
Patient codes	False negative: 1, 9, 14, 15	True negative: 2, 3, 4, 5, 6, 8, 16, 20
Total population, n	9	8