Genomic analysis of the primitive gastric cancer and biliary recurrence: The gastric primary and the biliary tumour share the same molecular profile in terms of driver gene mutations
| Tumour . | TMB . | MS . | Gene alterations . | CNV . | ||
|---|---|---|---|---|---|---|
| Gene . | Variation . | Gene . | Variation . | |||
| Primitive gastric cancer | 8,1 | MSS | BLM EP300 RET | p.A614T p.P1911del p.A513G | ATM NF1 | LOH LOH |
| Biliary ductal recurrence | 8,6 | MSS | BLM EP300 RET | p.A614T p.P1911del p.A513G | APLNR CDKN1B | Gain LOH |
| Tumour . | TMB . | MS . | Gene alterations . | CNV . | ||
|---|---|---|---|---|---|---|
| Gene . | Variation . | Gene . | Variation . | |||
| Primitive gastric cancer | 8,1 | MSS | BLM EP300 RET | p.A614T p.P1911del p.A513G | ATM NF1 | LOH LOH |
| Biliary ductal recurrence | 8,6 | MSS | BLM EP300 RET | p.A614T p.P1911del p.A513G | APLNR CDKN1B | Gain LOH |
There were some differences in terms of copy number variation, but this is in line with well-established knowledge on the independent evolution of metastases. TMB, tumour mutational burden; MS, microsatellite status; MSS, microsatellite stability; CNV, copy number variations; LOH, loss of heterozygosity.
Genomic analysis of the primitive gastric cancer and biliary recurrence: The gastric primary and the biliary tumour share the same molecular profile in terms of driver gene mutations
| Tumour . | TMB . | MS . | Gene alterations . | CNV . | ||
|---|---|---|---|---|---|---|
| Gene . | Variation . | Gene . | Variation . | |||
| Primitive gastric cancer | 8,1 | MSS | BLM EP300 RET | p.A614T p.P1911del p.A513G | ATM NF1 | LOH LOH |
| Biliary ductal recurrence | 8,6 | MSS | BLM EP300 RET | p.A614T p.P1911del p.A513G | APLNR CDKN1B | Gain LOH |
| Tumour . | TMB . | MS . | Gene alterations . | CNV . | ||
|---|---|---|---|---|---|---|
| Gene . | Variation . | Gene . | Variation . | |||
| Primitive gastric cancer | 8,1 | MSS | BLM EP300 RET | p.A614T p.P1911del p.A513G | ATM NF1 | LOH LOH |
| Biliary ductal recurrence | 8,6 | MSS | BLM EP300 RET | p.A614T p.P1911del p.A513G | APLNR CDKN1B | Gain LOH |
There were some differences in terms of copy number variation, but this is in line with well-established knowledge on the independent evolution of metastases. TMB, tumour mutational burden; MS, microsatellite status; MSS, microsatellite stability; CNV, copy number variations; LOH, loss of heterozygosity.
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