Table 2.
Results of exhaustive genomic profiling, next-generation sequencing (NGS) of 65 genes (Ion Torrent technology [Life Technologies, Carlsbad, CA, USA]), methylation profiling, and immunohistochemistry (IHC) of the tumor tissue (OncoDEEP) from both patients.
| Patient 1 | Patient 2 | |||
|---|---|---|---|---|
| NGS | ||||
| Variants | N | |||
| Variants of uncertain significance (VUS) | 1 | KDR p.R961Q | ||
| Probably polymorphism | 1 | PIK3CA p.I391M | 1 | DPYD p.S534N |
| IHC | ||||
| Protein/biomarker | Expression | Clinical impact | ||
| P16 | Positive | Potential lack of clinical benefits of CDK4/6 inhibitors | Negative | Potential lack of clinical benefits of CDK4/6 inhibitors |
| CDK4 | Negative | Potential lack of clinical benefits of CDK4 inhibitors | Moderate | Potential clinical benefits of CDK4 inhibitors |
| Phospho-Rb | Negative | Potential lack of clinical benefits of CDK4/6 inhibitors | Positive | Potential clinical benefits of CDK4/6 inhibitors |
| Fusion panel (ALK/ROS1/RET) | Negative | Potential lack of clinical benefits of Crizotinib | Negative | Potential lack of clinical benefits of Crizotinib |
| MGMT methylation | Positive | Potential clinical benefits of temozolomide | Positive | Potential clinical benefits of temozolomide |
| CD8 | Negative | Potential lack of clinical benefits of PD-1/PD-L1 inhibitors | Negative | Potential lack of clinical benefits of PD-1/PD-L1 inhibitors |
| PD-L1 | Low | Potential lack of clinical benefits of PD-1/PD-L1 inhibitors | Low | Potential lack of clinical benefits of PD-1/PD-L1 inhibitors |
| p4EBP1 | Low | Potential lack of clinical benefits of mTOR inhibitors | Low | Potential lack of clinical benefits of mTOR inhibitors |
| PTEN | Positive | Potential lack of clinical benefits of PIK3CA and/or mTOR inhibitors | Positive | Potential lack of clinical benefits of PIK3CA and/or mTOR inhibitors |
| VEGF | Positive | Treatment based on angiogenesis inhibitors associated with undetermined clinical benefit in paraganglioma | Negative | Potential lack of clinical benefits of angiogenesis inhibitors |
| VEGFR2 | Low | Potential lack of clinical benefits of VEGFR2 inhibitors | ||
| EGFR | Negative | Potential lack of clinical benefits of EGFR inhibitors | Negative | Potential lack of clinical benefits of EGFR inhibitors |