Table 2.
Patients in the study who underwent treatment with experimental agents.
| Case ID | Gender | Age (years) | Anatomic subtype | Stage at diagnosis | Pre-biopsy treatment(s) for advanced disease | Actionable Alterations | Potentially Actionable Alterrations | Other Notable Alterations | Post-biopsy Treatment(s) |
|---|---|---|---|---|---|---|---|---|---|
| MO_1022 | M | 49 | iCCA | Localized resectable | Capecitabine/ oxaliplatin | Gemcitabine/capecitabine/bevacizumab (OL); Tivantinib/gemcitabine; Erlotinib/bevacizumab; MEK inhibitor (CT); cabozantinib (OL) | |||
| MO_1175 | M | 66 | CUP (iCCA) | Metastatic | Gemcitabine/carboplatin; FOLFOX/ bevacizumab | gBRCA2 E13fs | KRAS G12D, TP53 R273C, GNAS R201H | MEK inhibitor (CT) | |
| MO_1203 | F | 46 | iCCA | Localized resectable | Gemcitabine/ cisplatin; FOLFOX; IAP antagonist (CT) | FGFR2-CCAR2 fusion | BAP1 Y173C, PBRM1 E991fs | SMAC mimetic (CT); EGFR antibody (CT) | |
| MO_1338 | M | 42 | iCCA | Metastatic | Gemcitabine/ cisplatin | STK11 deletion | SMAD4 deletion, KEAP1 deletion, GNA11 deletion, TP53 P98fs, gFH K477dup- likely pathogenic/ VUS | 5FU (CT); mTOR inhibitor (OL) | |
| MO_1347 | M | 45 | iCCA | Metastatic | Gemcitabine/cisplatin | Hypermutation (TMB>10), gMSH2 E832*+sMSH2 c.1662-1G>A splA | EGFR Q787R, BRCA2 T3033fs, CDKN2A P105fs, ARID1A P1326fs | TP53 R174G and R158H, BAP1 V27fs, TET2 K534* | MEK inhibitor (CT) |
| MO_1369 | F | 61 | iCCA | Localized resectable | Gemcitabine/ cisplatin; RFA; Capecitabine/RT; SBRT; Capecitabine/ oxaliplatin; Capecitabine/ gemcitabine | IDH1 R132C | TP53 R248Q | Ivosidenib (CT) | |
| MO_1388 | M | 44 | iCCA | Metastatic | Gemcitbaine/ cisplatin | ERBB2 amplification & outlier expression | MDM2 amplification + outlier expression | FOLFIRI; FOLFOX; Trastuzumab (OL) | |
| MO_1518 | F | 63 | CUP (iCCA) | Metastatic | None | FGFR2-CCDC6 fusion | PIK3CA E545G | Gemcitabine/cisplatin; Pemigatinib (CT); Anti-LAG3 antibody (CT) | |
| MO_1595 | M | 50 | iCCA | Metastatic | Gemcitabine/ cisplatin; FOLFOX | FGFR2-MATN4 fusion | gATM R2832C | FOLFIRI; Pemigatinib (CT) | |
| MO_1613 | M | 70 | iCCA | Locally advanced | Gemcitabine/ nab-paclitaxel (CT); Gemcitabine/ cisplatin; FOLFOX | ARID1A p.Q177*+LOH | BAP1 R252fs+LOH, CDKN2A deletion | FOLFIRI; CDK4/6 inhibitor (CT) | |
| MO_1642 | M | 53 | iCCA | Metastatic | Gemcitabine/ cisplatin; Gemcitabine/ carboplatin | NRAS G12D | Anti-PD-L1 antibody/TAK-659 (CT) | ||
| MO_1723 | F | 50 | Mixed | Locally advanced | Gemcitabine/ carboplatin; SIRT; FOLFOX; TACE | FGFR2-AHCYL1 fusion | Pemigatinib (CT) | ||
| MO_1778 | M | 27 | CUP (iCCA) | Metastatic | Cisplatin/ etoposide; FOLFIRINOX | FGFR2-BICC1 fusion | CDKN2A p.H83Y+LOH | Pan FGFR inhibitor (CT) | |
| MO_1780 | M | 71 | Mixed | Metastatic | FOLFOX/ bevacizumab; Capecitabine/ bevacizumab; Sorafenib | BAP1 K421fs+c.375+1G>T splice donor | Anti-PD-1 antibody (OL) | ||
| MO_1794 | F | 51 | iCCA | Metastatic | Gemcitabine/ cisplatin | FGFR2-BICC1 fusion | BAP1 T203K, PBRM1 R690fs | FOLFOX; Pemigatinib (CT); FOLFIRI; SIRT; Gemcitabine/paclitaxel; Sunitinib (CT) | |
| MO_1883 | F | 57 | GB | Metastatic | Gemcitabine/ cisplatin | CDKN2A deletion, ARID1A Q479* | TP53 R175H+LOH, SMAD4 G386D+LOH | Gemcitabine/capecitabine; CTLA-4 antibody/PD-1 antibody (CT) | |
| MO_2057 | F | 63 | CUP (iCCA) | Locally advanced | Carboplatin/ etoposide; Capecitabine/ temozolomide | IDH2 R172W | ARID1A D2178fs+LOH | RASA1 p.L870fs+LOH | Gemcitabine/oxaliplatin; Enasidenib (OL) |
| MO_2127 | M | 20 | iCCA | Metastatic | Gemcitabine/ cisplatin/anti-PD-1 antibody (CT) | CCND1 amplification+outlier expression, ARID1A Q335*+LOH | TGFBR1 I109fs+LOH, APC P1594fs+LOH, CDKN2A deletion | FOLFOX | |
| MO_2549 | F | 52 | iCCA | Metastatic | Gemcitabine/ cisplatin | ERBB2 amplification+outlier expression | MDM2 amplification+outlier expression | CDKN2A/B deletion | PARP inhibitor/PD-1 antibody (CT) |
| TP_2475 | F | 62 | Mixed | Locally advanced | None | Hypermutation (TMB >10) | ARID1A P153A, PTEN S129G | BAP1 p.E31*+LOH, RB1 p.S567*+LOH | Gemcitabine/cisplatin; Anti-CTLA-4 antibody/anti-PD-1 antibody (CT); Capecitabine/oxaliplatin |
| TP_2495 | F | 67 | iCCA | Metastatic | None | BRAF D594G, ARID1A p.E1836fs, NRAS p.V14_Gdel in frame | gMUTYH G393D, TP53 N29fs+Splice Donor | Gemcitabine/cisplatin; FOLFOX; Regorafenib (CT); FOLFIRI | |
| TP_2541 | M | 59 | iCCA | Localized resectable | None | NRAS G13R | CDKN2A deletion | Gemcitabine/cisplatin/anti-PD-1 antibody (CT) | |
| TP_2670 | F | 65 | iCCA | Metastatic | None | IDH1 R132G | ARID1A P120fs | RASA1 I859fs | PARP inhibitor/anti-PD-1 antibody (CT) |
| TP_2682 | M | 43 | iCCA | Localized resectable | Gemcitabine/ cisplatin | TSC1 R786*+LOH | MAX R33*+LOH, NF2 K44*+LOH, CDKN2A deletion | Capecitabine/gemcitabine; 5-FU/nal-irinotecan/anti-PD-1 antibody (CT) | |
| TP_2694 | F | 55 | iCCA | Metastatic | None | FOXQ1 E147*+ E107K, KRAS G12V | Gemcitabine/cisplatin; 5-FU/nal-irinotecan/anti-PD-1 antibody (CT); FOLFOX; Gemcitabine/nab-paclitaxel | ||
| BT_7001 | M | 57 | iCCA | Metastatic | None | IDH1 R132G | BAP1 L100R+LOH | Gemcitabine/cisplatin/anti-PD-1 antibody (CT); Ivosidenib (CT) | |
| BT_7019 | M | 51 | iCCA | Metastatic | Anti-CTLA-4 antibody/anti-PD-1 antibody (CT) | ARID1A Q67*+LOH | NRAS G12D, CDKN2A deletion | Gemcitabine/cisplatin/nab-paclitaxel; Capecitabine/gemcitabine | |
| BT_7036 | M | 59 | iCCA | Metastatic | Anti-CTLA-4 antibody/anti-PD-1 antibody (CT) | CCNE1 amplification+moderate expression | TP53 p.R175H | Gemcitabine/cisplatin; FOLFOX | |
| BT_7047 | M | 61 | iCCA | Locally Advanced | Gemcitabine/ cisplatin/ anti-PD-1 antibody (CT) | TP53 H178fs+LOH, SMAD4 p.E49*+LOH, CDKN2A deletion, KRAS G12D, KDM6A deletion | SIRT; resection followed by Gemcitabine/cisplatin, SBRT | ||
| BT_7201 | F | 54 | iCCA | Metastatic | None | ARID1A p.R1528*+LOH | TP53 p.R306*+LOH, CDKN2A p.H83Y+LOH | Gemcitabine/cisplatin; PARP inhibitor/anti-PD-1 antibody (CT); Capecitabine/oxaliplatin; Gemcitabine/nab-paclitaxel | |
| BT_7304 | F | 66 | GB | Metastatic | Capecitabine/ gemcitabine | ARID1A E2250fs+LOH, AKT2 amplification | BAP1 D672G+LOH, SMAD4 splice acceptor+LOH | 5-FU/nal-irinotecan/anti-PD-1 antibody (CT); Capecitabine/oxaliplatin | |
| G360.01 | M | 75 | iCCA | Metastatic | None | BRAF V600E | TP53 G279E | Cobimetinib + vemurafenib (OL) | |
| FDX001 | M | 54 | iCCA | Metastatic | FOLFIRI plus nab-paclitaxel (CT) | FGFR2-SLMAP fusion | PIK3CA H1047L | BAP1 splice site 255+2T>G, PBRM1 L848fs*16 | Pemigatinib (CT) |
| FDX002 | F | 60 | iCCA | Metastatic | Gemcitabine/ cisplatin | FGFR2-SHROOM3 fusion | PTEN D268fs*30, PIK3CA K593fs*8 | CDKN2A A17_G23>GR, TERT promoter -146C>T | Pemigatinib (CT) |
| G360.02 | F | 57 | iCCA | Metastatic | None | IDH1 R132C | MYC A299V | Ivosidenib (CT) | |
| FDX005 | F | 55 | iCCA | Metastatic | Capecitabine | BRAF V600E | Cobimetinib + vemurafenib (OL) | ||
| FDX006 | F | 52 | iCCA | Metastatic | None | VCL-FGFR2 fusion | Pemigatinib (CT) | ||
| FDX026 | M | 64 | iCCA | Metastatic | Anti-CTLA-4 antibody/anti-PD-1 antibody (CT) | IDH1 R132C | TP53 K132N | Ivosidenib (CT) |
Bold denotes matched treatment to actionable or potentially actionable mutation; iCCA, intrahepatic cholangiocarcinoma; GB, gall bladder carcinoma; mixed, mixed hepatocellular/ cholangiocarcinoma; CUP, carcinoma of unknown primary; OL, off-label; CT, clinical trial