TABLE 1.
Molecular profile of patients with mCRPC with extreme response to immune checkpoint blockade
| Gene | Mutation | ||
|---|---|---|---|
| Patient 1 | BRCA2 | N319fs*8 | Germline |
| ROS1 | D725N | Somatic | |
| MS-S | |||
| TMB 5 mut/Mb | |||
| Patient 2 | ATM | R2244Kfs*5 | Somatic |
| DNMT3A | D564_L566del | Somatic | |
| ERBB2 | E930D | Somatic | |
| KMT2A | M1923I | Somatic | |
| POLD1 | R218H | Somatic | |
| RB1 | P777Lfs*33 | Somatic | |
| TSC1 | D1002V | Somatic | |
| TSC1 | E990K | Somatic | |
| AR | Amplification | ||
| FGFR1 | Amplification | ||
| MYC | Amplification | ||
| MS-S | |||
| TMB NR | |||
| Patient 3 | BRCA2 | D1754Na | Somatic |
| BRCA2 | R2991Ca | Somatic | |
| DNMT3A | R882H | Somatic | |
| JAK2 | V617F | Somatic | |
| NTRK2 | R598C | Somatic | |
| TP53 | Y205D | Somatic | |
| TP53 | H193L | Somatic | |
| MS-S | |||
| TMB NR |
Abbreviations: MS-S , microsatellite stable; NR , not reported; TMB, tumor mutational burden.
Note: The bold values used to discern between MSI/TMB status and the mutated genes listed.
a
VUS, variant of unknown significance.