Skip to main content

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