Table 1. Results of sequencing of the surgically resected and EUS-FNB specimens.
Specimens | Mean depth | Uniformity | Target base coverage at 100 × (%) | Target base coverage at 500 × (%) | KRAS | TP53 | SMAD4 | CDKN2A | Other mutations (%) |
EUS-FNB | 3,014 | 0.889 | 98.7 | 89.9 | G12 D (49.8) | WT | W323X (49.1) | WT | RNF43 I186F 1 (21.2) |
EPB 2 | – | – | – | ― | G12 D (2.1) | ― | WT | ― | ― |
Primary PDA | 2,755 | 0.952 | 98.5 | 96.3 | G12 D (13.8) | WT | W323X (3.5) | WT | RNF43 I186F 1 (16.2) |
PNET | 3,383 | 0.946 | 99.2 | 96.0 | WT | WT | WT | WT | ND |
Recurrent tumor | 3,307 | 0.902 | 98.5 | 94.7 | G12 D (18.8) | WT | W323X (22.7) | WT | RNF43 I186F 1 (22.4) |
GIST | 2,763 | 0.930 | 98.7 | 94.7 | WT | WT | WT | WT | ND |
EUS-FNB, endoscopic ultrasound-guided fine-needle biopsy; EPB, endoscopic pancreatic biopsy; GIST, gastrointestinal stromal tumor; ND, not detected; PDA, pancreatic ductal adenocarcinoma; PNET, pancreatic neuroendocrine tumor.
The COSMIC ( http://cancer.sanger.ac.uk/cosmic ) and ClinVar ( https://www.ncbi.nlm.nih.gov/clinvar/ ) databases were used to classify variants of unknown significance.
Digital PCR was performed to detect and quantify KRAS G12 D and SMAD4 W323X variants (see Supplementary Figure 2 for details).