Table 2

Genomic alterations in patients (N=8) whose tumors were assessed by clinical-grade NGS

Primary tumor siteAssayTMB (mut/mb)PDL1 status (Antibody)NGS findings
(characterized alterations; no VUSs)
Best response
Right atriumTissue NGS
(FoundationOne Heme Panel, 405 genes) genes)
3Not doneBRAF G469R, MLL2 Q52* and W2818*PD
ScalpTissue NGS
(FoundationOne Heme Panel, 406 genes)
8TPS 50% (Ventana SP263 antibody)HRAS and HGF amplification, ATRX splice site mutation, TP53 A159V mutationDied prior to first response assessment
Breast- XRTGuardant 360 liquid biopsy NGS (74 genes)Not doneNot donePEAR1-NTRK1 Fusion,
ATM R337C, TP53 T140fs,
MYC amplification
BreastTissue NGS
(FoundationOne Heme Panel, 406 genes)
0Not donePIK3CA P471L,
ASXL Q623fs*8,
PRDM1 G585fs*48
Skin of faceTissue NGS
(Tempus 1714 genes)
8.4TPS 30% (22C3 antibody)CDKN2A copy number loss, POT1 p.Y122_E128delins*(LOF), SPEN p.R653* (LOF)
CDKN2B copy number loss
ScalpTissue NGS (local institutional panel, 170 genes)24Not doneKIT amplification,
TP53 A347V and E286K
SpleenTissue NGS (Local Institutional Panel, 523 genes)5Not doneATM R337H,
NOTCH1 c.2882delC:p.Thr961ArgfsTer218
SD (6+ months ongoing)
Skin of armTissue NGS
(FoundationOne Heme Panel, 406 genes)
5TPS 0%
(Ventana SP263 antibody)
BRCA1 N1355fs*10, CDKN2A/B loss, NOTCH1 V1575LPD
  • 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.