OnkoSightTM Next-Generation Sequencing (NGS) Tumor Mutation Burden
The significance of Tumor Mutation Burden (TMB) as a critical molecular biomarker in clinical oncology is being increasingly recognized. High levels of TMB have been reported to positively predict favorable therapeutic response to immune checkpoint inhibitor agents across tumor types. High TMB levels are known to be especially prevalent among non-small cell lung cancer (NSCLC), melanoma, squamous cell carcinoma of the head and neck, and urothelial carcinoma, among others.
OnkoSightTM NGS tumor mutation burden assay requires a minimal sample of 10-20ng and can interrogate ~1.7MB of the genome, thus increasing accuracy.
Test Codes:
• TG47-6 Tumor Mutation Burden (Non-NY)
• TG48-4 Tumor Mutation Burden (NY)
Specimen Requirement:
Can accept FFPE blocks, Cytology smear slides (Diff Quick, Papanicolau stained smears).
If no FFPE block, prefer minimum 4-5 histologic slides.
TAT:
7-10 days from receipt of specimen at the lab
Reportable Range Reference Gene List
ABL2 | CD79A | EPHB1 | GRM8 | LIFR | MYH9 | PMS1 | SOX2 | WAS | GNAS | ATRX |
ACVR2A | CD79B | EPHB4 | GUCY1A2 | LPHN3 | NCOA1 | POT1 | SSX1 | WHSC1 | HFN1A | BAP1 |
ADAMTS20 | CDC73 | EPHB6 | HCAR1 | LPP | NCOA2 | POU5F1 | STK36 | WRN | HRAS | CDK12 |
AFF1 | CDH1 | ERCC1 | HIF1A | LRP1B | NCOA4 | PPARG | SUFU | XPA | IDH1 | CDKN2A |
AFF3 | CDH11 | ERCC3 | HLF | LTF | NFKB1 | PPP2R1A | SYK | XPC | IDH2 | CDKN2B |
AKAP9 | CDH2 | ERCC4 | HOOK3 | LTK | NFKB2 | PRDM1 | SYNE1 | XPO1 | JAK2 | CEBPA |
APC | CDH20 | ERCC5 | HSP90AA1 | MAF | NIN | PRKAR1A | TAF1 | XRCC2 | KOR | CHEK1 |
ARID2 | CDH5 | ERG | HSP90A81 | MAFB | NKX2-1 | PRKDC | TAF1L | ZNF384 | KIT | CHEK2 |
ARNT | CDK8 | ETS1 | ICK | MAGEA1 | NLRP1 | PSIP1 | TAL1 | ZNF521 | KRAS | CREBBP |
ATF1 | CDKN2C | ETV1 | IGF1R | MAGl1 | NOTCH4 | PTGS2 | TBX22 | ABL1 | MAP2K1 | DNMT3A |
AURKA | CIC | ETV4 | IGF2 | MALT1 | NSD1 | PTPRD | TCF12 | AKT1 | MAP2K2 | FANCA |
AURKB | CKS1B | EXT1 | IGF2R | MAML2 | NUMA1 | PTPRT | TCF3 | AKT2 | MAP2K4 | FANCD2 |
AURKC | CMPK1 | EXT2 | IKBKB | MAP3K7 | NUP214 | RALGDS | TCF7L1 | AKT3 | MAPK1 | FBXW7 |
BAI3 | COL1A1 | FAM123B | IKBKE | MAPK8 | NUP98 | RARA | TCF7L2 | ALK | MET | MLH1 |
BCL10 | CRBN | FANCC | IKZF1 | MARK1 | PAK3 | RECQL4 | TCL1A | AR | MPL | MSH2 |
BCL11A | CREB1 | FANCF | IL2 | MARK4 | PARP1 | REL | TET1 | AXL | MTOR | MSH6 |
BCL11B | CRKL | FANCG | IL21R | MBD1 | PAX3 | RHOH | TFE3 | BRAF | MTC | NBN |
BCL2 | CRTC1 | FANCJ | IL6ST | MCL1 | PAX5 | RNASEL | TGFBR2 | CBL | MYCN | NF1 |
BCL2L1 | CSMD3 | FAS | IL7R | MDM2 | PAX7 | RNF2 | TGM7 | CCND1 | NFE2L2 | NF2 |
BCL2L2 | CTNNA1 | FH | ING4 | MDM4 | PAX8 | RNF213 | THBS1 | CDK4 | NRAS | NOTCH1 |
BCL3 | CTNNB1 | FLCN | IRF4 | MEN1 | PBRM1 | RPS6KA2 | TIMP3 | CDK6 | NTRK1 | NOTCH2 |
BCL6 | CYLD | FLl1 | IRS2 | MITF | PBX1 | RRM1 | TLR4 | CSF1R | NTRK3 | NPM1 |
BCL9 | CYP2C19 | FLT1 | ITGA10 | MLL | PDE4DIP | RUNX1T1 | TLX1 | DDR2 | PDGFRA | PALB2 |
BCR | CYP2D6 | FLT4 | ITGA9 | MLL2 | PDGFB | SAMD9 | TNFAIP3 | EGFR | PDGFRB | PIK3R1 |
B1RC2 | DAXX | FN1 | ITGB2 | MLL3 | PER1 | SBDS | TNFRSF14 | ERBB2 | PIK3CA | PMS2 |
B1RC3 | DCC | FOXL2 | ITGB3 | MLL10 | PGAP3 | SDHA | TNK2 | ERBB3 | PIK3CB | PTCH1 |
B1RC5 | DDB2 | FOXO1 | JAK1 | MMP2 | PHOX2B | SDHB | TOP1 | ERBB4 | PTPN11 | PTEN |
BLM | DDIT3 | FOXO3 | JAK3 | MN1 | PIK3C2B | SDHC | TPR | ERCC2 | RAF1 | RADSO |
BLNK | DEK | FOXP1 | JUN | MRE11A | PIK3CD | SDHD | TRIM24 | ESR1 | RET | RB1 |
BMPR1A | DICER1 | FOXP4 | KAT6A | MTR | PIK3CG | SEPT9 | TRIM33 | EZH2 | ROS1 | RUNX1 |
BRD3 | DPYD | FZR1 | KAT6B | MTRR | PIK3R2 | SGK1 | TRIP11 | FGFR1 | SF3B1 | SETD2 |
BTK | DST | G6PD | KDM5C | MUC1 | PIM1 | SH2D1A | TRRAP | FGFR2 | SMO | SMARCA4 |
BUB1B | EML4 | GATA1 | KDM6A | MUTYH | PKHD1 | SMAD2 | TSHR | FGFR3 | SRC | SMARCB1 |
CARD11 | EP300 | GATA2 | KEAP1 | MYB | PLAG1 | SMAD4 | UBR5 | FGFR4 | ARID1A | STK11 |
CASC5 | EP400 | GATA3 | KLF6 | MYCL1 | PLCG1 | SMUG1 | UGT1A1 | FLT3 | ASXL1 | TET2 |
CCND2 | EPHA3 | GDNF | LAMP1 | MYD88 | PLEKHGS | SOCS1 | USP9X | GNA11 | ATM | TP53 |
CCNE1 | EPHA7 | GPR124 | LCK | MYH11 | PML | SOX11 | VHL | GNAQ | ATR | TSC1 |
TSC2 | WT1 |
Reference
- Stenzinger A, Allen JD, Maas J et al., Tumor Mutation Burden Standardization initiatives: Recommendations for consistent tumor mutational burden assessment in clinical samples to guide immunotherapy treatment decision Gene Chromosomes Cancer 2019 Aug:58(8):578-588 doi:10.1002/gcc.22733 Epub 2019 Mar 7
- Buttner et al (2019) ESMO Open. Jan 24; 4(1).
- Hellman et al (2018) New England Journal of Medicine 378 (22): 2093-2104
- Ready, K et al (2019). Journal of Clinical Oncology 37 (12): 992-1000
- Rizvi et al. (2015). Science 348 (6230): 124-128
- Journal for Immunotherapy for Cancer 2018, 6 (Suppl 2):O48