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. Author manuscript; available in PMC: 2022 Nov 1.
Published in final edited form as: Am J Surg Pathol. 2021 Nov 1;45(11):1550–1560. doi: 10.1097/PAS.0000000000001729

Table 2.

Genetic Alterations Found in Index cases of Cholangioblastic Variant of Intrahepatic Cholangiocarcinoma.

Genetic Alteration Case 1 Case 2
Point Mutations STAT5B p.Glu315*
APC p.Glu1891*
LAMA5 p.Arg2561Gln
PRKDC p.Arg782Lys
BRAF p.Leu711Phe
FLNC p.Glu2171Lys
PPARG p.Asp490Asn
BRINP3 p.Phe107Leu
KAT6A p.Glu986Lys
TP63 p.Glu248Gln
ROBO2 p.Asp197Tyr
RBM15 p.Met45Ile
CHD4 p.Pro468Ala
LRRC37B p.Pro748Ser
EPHA3 p.Val58Leu
CACNA2D3 p.Leu169Val
CENPF p.Ser2741Leu
RYR3 p.Asp4008Asn
FHL2 p.Trp181Arg
GPS2 p.Leu128Val
BRWD3 p.Ser222Cys
INPP4A c.1363–1G>C
NOS3 c.2897–1G>A
PTK2 c.2603–1G>A
LAMA5 p.His749Tyr
CTNNB1 p.Ser348Tyr
Copy Number Alterations Aneuploidy
Loss of 1p36.33-q11 including TGFBR3
Loss of 6p25.3-q27
Loss of 11p15.5-q25
Loss of 16p11.1-q24.3
Gain of 5p15.33-p13.2
Gain of 7p22.1-q36.3
Gain of 9p24.3-q34.3
Gain of 19p13.3-q13.43
Loss of 1p22.2-p22.1 involving TGFBR3
Loss of 13q32.3-q33.3
Loss of 16q11.2-q24.3
Gene Fusions NIPBL-NACC1 NIPBL-NACC1