Background
Methods
Patient selection and tissue preparation
Isolation of genomic DNA
Targeted deep sequencing of mutational hotspots in 50 cancer-related genes
Immunohistochemistry
Results
Clinical summary
Author | Age (median) | Sex (M/F) | smoking habit (Y/N) | Driver Mutation | Other Mutations | NGS panel |
---|---|---|---|---|---|---|
Kamata et al. [4] | 62 | 7/3 | 5/5 |
BRAF V600E, 4 cases; EGFR ex19del E746-T751, 3 cases; BRAF G606R, 1 case |
IDH1 G123R, 1 case; CTNNB1 D32N, 1 case; PTPN11 E76K, 1 case; PTPN11 P491L, 1 case; TP53 L289F, 1 case | Ion AmpliSeq Cancer Hotspot Panel v2 |
Liu et al. [5] | – | 1/3 | – |
BRAF V600E, 1 case |
AKT1 E17K, 1 case | Ion AmpliSeq Cancer Hotspot Panel v2 |
Lau et al. [15] | 19 | 0/1 | 0/1 | none | none | Ion Ampliseq Colon and lung cancer panel |
Our series | 67 | 0/4 | 0/4 |
BRAF V600E 1 caseKRAS G12D, 1 case |
AKT1 E17K, 1 case | Ion AmpliSeq Cancer Hotspot Panel v2; The Contextual Genomics Find-ItTM test |
Histological findings
Immunohistochemistry
Author | TTF-1 | Ki67 | CK7 | CK20 | MUC5AC | MUC5B | p53 | HNF4α | p63/p40 | CDX2 | PD-L1 | ALK |
BRAF V600E
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sato et al. [8] | 2/2 | 3%; 10% | 2/2 | 0/2 | 1/2 | - | - | - | - | - | - | - | - |
Chuang et al. [14] | 1/1 | <1% | 1/1 | 0/1 | - | - | 0/1 | - | 1/1 | - | - | - | - |
Chu et al. [13] | 1/1 | - | 1/1 | 0/1 | - | - | - | - | 1/1 | - | - | - | - |
Kon et al. [12] | 5/5 | <1%; 5 | 5/5 | 0/5 | 0/5 | - | 0/5 | - | 5/5 | - | - | - | - |
Lau et al. [15] | 1/1 | not increase | 1/1 | 0/1 | 1/1(weak) | - | - | - | 1/1 | - | - | - | - |
Kamata et al. [4, 11] | +a
| - | - | - | +a (cliated cells) | - | - | 0/10a
| +a
| - | - | - | 4/4b
|
Ishikawa et al. [16] | 3/5 | <5% 3; <10% 1 | 5/5 | 0/5 | - | - | 3/3 | - | - | - | - | - | - |
Taguchi et al. [10] | 0/1 | 3.7% | 1/1 | 0/1 | 1/1 | - | <1% | - | 1/1 | - | - | 1/1 | 0/1 |
Jin et al. [6] | 1/1 | - | 1/1 | - | - | - | - | - | 1/1 | - | - | 1/1 | - |
Our series | 4/4 | <5% 3; <10% 1 | 4/4 | 0/4 | 4/4 | 4/4 | 1/4 | 4/4 | 4/4d
| 0/4 | <1% 4/4 | 0/4 | 1/4c
|