Genomic alterations in patients (N=8) whose tumors were assessed by clinical-grade NGS
| Primary tumor site | Assay | TMB (mut/mb) | PDL1 status (Antibody) | NGS findings (characterized alterations; no VUSs) | Best response |
| Right atrium | Tissue NGS (FoundationOne Heme Panel, 405 genes) genes) | 3 | Not done | BRAF G469R, MLL2 Q52* and W2818* | PD |
| Scalp | Tissue NGS (FoundationOne Heme Panel, 406 genes) | 8 | TPS 50% (Ventana SP263 antibody) | HRAS and HGF amplification, ATRX splice site mutation, TP53 A159V mutation | Died prior to first response assessment |
| Breast- XRT | Guardant 360 liquid biopsy NGS (74 genes) | Not done | Not done | PEAR1-NTRK1 Fusion, ATM R337C, TP53 T140fs, MYC amplification | PR |
| Breast | Tissue NGS (FoundationOne Heme Panel, 406 genes) | 0 | Not done | PIK3CA P471L, HRAS G13D, ASXL Q623fs*8, PRDM1 G585fs*48 | PD |
| Skin of face | Tissue NGS (Tempus 1714 genes) | 8.4 | TPS 30% (22C3 antibody) | CDKN2A copy number loss, POT1 p.Y122_E128delins*(LOF), SPEN p.R653* (LOF) CDKN2B copy number loss | PR |
| Scalp | Tissue NGS (local institutional panel, 170 genes) | 24 | Not done | KIT amplification, TP53 A347V and E286K | PR |
| Spleen | Tissue NGS (Local Institutional Panel, 523 genes) | 5 | Not done | ATM R337H, NOTCH1 c.2882delC:p.Thr961ArgfsTer218 | SD (6+ months ongoing) |
| Skin of arm | Tissue NGS (FoundationOne Heme Panel, 406 genes) | 5 | TPS 0% (Ventana SP263 antibody) | BRCA1 N1355fs*10, CDKN2A/B loss, NOTCH1 V1575L | PD |
LOF, loss of function; NGS, next generation sequencing; PD, progressive disease; PR, partial response; SD, stable disease; TMB, tumor mutation burden; TPS, Tumor Proportion Score; VUS, variant of uncertain significance; XRT, radiation therapy.