Co-occurring deleterious alterations and concordance of MSI-H identification between tissue immunohistochemistry and Guardant360 in patients with pancreatic ductal adenocarcinoma
Patient ID | Guardant360 findings | Tissue concordance | ||||
RAS findings | RAF findings | HRR gene-related findings | Other findings | Tissue assessed ? | G360/Tissue MSI-H concordant? | |
Responders (CR/PR) | ||||||
2 | KRAS | none | BRCA1 K654fs | EGFR amp | No—QNS | N/A |
G12D | BRCA2 K585fs | |||||
KRAS amp | BRCA2 T3085fs | |||||
3 | KRAS | none | ATM K1773fs | TP53 E339* | Yes | Concordant |
Q61H | (MLH1, PMS2) | |||||
5 | KRAS | none | none | none | Yes | Discordant. |
G12D | G360-MSI-H | |||||
IHC-proficient MMR | ||||||
6 | GNAS R201H | BRAF K483E | none | none | No—QNS | N/A |
7 | GNASR201H | BRAFV600E | ATM Y2019C | PIK3CA A1066V, | No—QNS | N/A |
CDK12 R882Q | PIK3CA E545D, | |||||
CDK12 splice | PIK3CA H1047R, | |||||
ARID1A T294fs | CTNNB1 T41A, | |||||
BRCA2 I605fs | APC S587fs, | |||||
PTEN K267fs, | ||||||
TP53 Y126C, | ||||||
TP53 S215G, | ||||||
TP53 K382fs, | ||||||
TP53 R273H | ||||||
8 | KRASG12D | none | none | TP53 R213L | Yes (MLH1, PMS2 | Concordant |
9 | Wild-type | none | BRCA1 K339fs | NOTCH1 splice | Yes | Concordant |
TP53 E258G | (MLH1, PMS2) | |||||
Non-responders (PD) | ||||||
1 | KRASG12D | none | ARID1A P1575fs | TP53 R175H | Yes | Concordant |
ARID1A D1850fs | TP53R283P | |||||
ARID1A F2141fs | ||||||
4 | KRAS G12V | none | ARID1A K1072fs | TP53 C242F | Yes (MSH6) | Concordant |
MLH1 splice | ||||||
Not given ICI | ||||||
10 | KRAS G12V, | none | ATM R3008H | PIK3CA amp | No—QNS | N/A |
KRAS amp | BRCA2 T3033fs | TP53P278S |
CR, complete response; EGFR, epidermal growth factor receptor; HRR, homologous recombination repair; ICI, immune checkpoint inhibitor; IHC, immunohistochemistry; MSI-H, microsatellite instability-high; N/A, not available; PD, progressive disease; PR, partial response; QNS, quantity not sufficient; RAF, rapidly accelerated fibrosarcoma; RAS, rat sarcoma virus gene.