Table 1.

Clinical characteristics of 11 patients with biliary tract cancers

	Age	Sex	Personal history	Staging†	Treatment			Outcome	Tumor IHC#	Germline testing
					Resection	Chemo	XRT
Perihilar	61	M	Colon ×2	T3N2M0 IV	Aborted	Yes	Yes	Died of disease 22.5 months survival	MLH1	MLH1 K461X (1381A>T)
	69	M	Colon ×2	T1N0M0 I	R0	No	No	Alive without disease 51.5 months survival	N/A	MLH1 del exon 1–19
	67	M	Colon	T2N0M0 II	R0	No	No	Intrahepatic recurrence at 33.4 months1	PMS2	MLH1, c.2252_2253delAA
								Alive with disease at 46.9 months
	52	M	Colon	T2N1M0 IIIC	R0	Yes	Yes	No evidence of disease 5.8 months survival	MLH1, PMS2	MLH1 c.2142G>A
Intrahepatic	52	M	Colon, lung, sebaceous adenoma	T1N1M0 IIIB	Aborted	Yes	Yes	Died of other causes 11.7 months survival	N/A	MSH2 del exons 9–10
	62	M	Colon, urothelial ×2, cutaneous SCC, prostate	TxN1M0 IIIB	Yes	Yes	No	Intrahepatic recurrence at 9.6 months	N/A	MSH2 c.2113delG
								Died of disease at 24.1 months
	54	M	Prostate2	T2N1M0 IIIB	Yes	Yes	No	No evidence of disease 9.6 months survival	MSH2, MSH6	MSH2 del exons 3–8
	57	M	Sebaceous adenoma, cutaneous SCC	TxN1M1 IV	Aborted	Yes	Yes	Alive with disease 49.8 months survival	N/A	MLH1, c.116G>A
Distal extrahepatic	41	M	Colon, lung	T2NxM13 IV	R1	Yes	No	Liver/nodal recurrence 35.5 months	N/A	MLH1, c.298C>T (p.Arg100X)
								Died of disease 49.3 months
Gall bladder	70	F	Endometrial	T3N1M1 IVB4	R05	Yes	No	Died of disease 11.9 months	N/A	MSH2 c.1216C>T
Ampullary	40	F	Gastric6, CML6	pT3N0M0 IIA	R0	Yes	Yes	Died of other causes 135 months survival	MSH6	MSH6 (c.2147_2148delCA)

^†Staging according to AJCC 8th Ed

^#Loss of expression of following protein on tumor immunohistochemistry

¹Recurrence initially treated with gemcitabine/Xeloda, then pembrolizumab, now other investigational agents

²Diagnosed simultaneously with biliary tract cancer

³Peritoneal disease found at time of resection

⁴Moderately differentiated adenocarcinoma with lymphovascular and perineural invasion

⁵Simple cholecystectomy

⁶Diagnosed after biliary tract cancer