PMC10119779_01
a, b Magnetic resonance imaging revealed a poorly defined, T1 hypointense, T2 hyperintense mass at the porta hepatis measuring 6 cm x 6.7 cm x 6.9 cm with distal biliary ductal dilatation. The left portal vein was not visualized in its course through the mass; the right portal vein demonstrated normal enhancement. c, d Immunohistochemical staining was positive for CK7 (strong, diffuse), mucicarmine, CK19 (focal), CK56 (focal), and galectin-3 (focal) and negative for CK20, S100P, TTF-1, and CDX-2. In combination with morphologic features, this confirmed cholangiocarcinoma. e, f Hypofractionated proton beam radiation therapy schematic for definitive treatment of unresectable cholangiocarcinoma, 58.05 Gy (RBE) in 3.87 Gy (RBE) per fraction for a total of 15 fractions.
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F1
T1 hypointense, T2 hyperintense mass at the porta hepatis measuring 6 cm x 6.7 cm x 6.9 cm with distal biliary ductal dilatation. The left portal vein was not visualized in its course through the mass; the right portal vein demonstrated normal enhancement (shown in Fig. 1a, b). TTF-1, and CDX-2, which, in conjunction with morphologic features, confirmed the diagnosis of cholangiocarcinoma (shown in Fig. 1c, d). She then underwent hypofractionated proton beam radiation therapy for definitive treatment (58.05 Gy [RBE] in 3.87 Gy [RBE] per fraction for a total of 15 fractions (shown in Fig. 1e, f)).
a Tissue sequencing identified a novel, presumed oncogenic AGRN-NRG1 fusion between chromosome 1 (AGRN) and chromosome 8 (NRG1) with breakpoints within exon 2 of AGRN and intron 1 of NRG1. b Initial tumor tissue sequencing identified 22 genomic alterations. Sequencing of progressive tumor tissue identified 66 new genomic alterations.
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F2
Tumor tissue sequencing identified a novel, presumed oncogenic AGRN-NRG1 fusion between chromosome 1 (AGRN) and chromosome 8 (NRG1) with breakpoints within exon 2 of AGRN and intron 1 of NRG1 (shown in Fig. 2a). Despite detection of 66 new genomic alterations, none were classified as driver events (shown in Fig. 2b).