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Table 1 Baseline, mutation characteristics, treatment, and outcomes

From: Two cases of intrahepatic cholangiocellular carcinoma with high insertion-deletion ratios that achieved a complete response following chemotherapy combined with PD-1 blockade

  Patient Reference
1 2 3 4 5 6 7 8
Baseline characteristics
 Age (years) 50 67 60 51 65 59 55 60  
 Sex male male female female female male male male  
 Surgery Yes Yes Yes No Yes Yes No Yes  
 Stage IIIb IIIb IIIb IIIb IIIb IIIb IV IIIb  
 Lymph node metastasis + + + + + + +  
 Virus infection HBV NHVI NHVI NHVI NHVI NHVI HCV HBV  
 Tumour PD-L1 expression level (%) < 5% < 5% < 1% unknown > 90% > 90% unknown < 5%  
 Percentage of CD8+ T cells 10% 10% 10% unknown 20% 20% unknown 30%  
Mutation characteristics
 TMB (mutations/Mb) 2.95 7.09 5.62 4.18 8.47 34.84 5.38 6.01 7.4 (median) [21]
 TMB (NSM) 25 163 114 66 209 1088 106 127 47 (median) [22]
 Number of SNVs 13 54 85 52 173 771 82 105 41 (median) [22]
 Number of indels 12 109 29 14 36 317 24 22 6 (median) [22]
 indels ratio (%) 48.00% 66.87% 25.44% 21.21% 17.22% 29.16% 22.64% 17.32% 12.77% (median) [22]
 MSI-H/MSS MSS MSS MSS MSS MSS MSI-H MSS MSS 3.2% MSI-H [20]
 dMMR/pMMR pMMR pMMR pMMR pMMR pMMR dMMR pMMR pMMR 2% dMMR [10]
 Percentage of CNVs (%) 3.1 4.2 9.29 2.66 4.75 0.78 3.67 5.92  
 Mutations conferring sensitivity to immunotherapy NA TP53/PTEN KRAS NA BRAF/GITR MLH1/GITR TP53 TP53  
 Mutations conferring resistance to immunotherapy   JAK2 B2M     chromosome 11q13   
Treatment
 Therapeutic regimen (cycles) tegafur (3) + pembrolizumab (15) + cyberknife (2) tegafur (5, but irregular) + pembrolizumab (6) nivolumab (4) + cisplatin (1) + gemcitabine (1) nivolumab (15) nivolumab (8) nivolumab (8) + cisplatin (1) + gemcitabine (1) nivolumab (8) + lenvatinib (8 months continuously) pembrolizumab (6)  
Outcome
 Type of response CR CR PD SD PD PR PD PR  
 PFS (months) 16 13 Unknown 7 5 3 Unknown 10  
  1. The whole exons of tumour tissues removed during surgery and matched white blood cells were sequenced by the Illumina NovaSeq 6000 Sequencing System with average sequence coverage of 200X. We calculated SNVs, indels, and copy number variations (CNVs) by the mutect2 algorithm, and CNVnator software, respectively. MSI was identified using msisensor, and dMMR was identified by analysing SNVs and indels in MLH1, MSH2, MSH6, and PMS2
  2. Abbreviations: CNG copy number gain, CNL copy number loss, NHVI no hepatitis virus infection