^
Contact us  to learn more about
our Premium Content:  News alerts, weekly reports and conference planners

TEST:
Oncomine Tumor Mutation Load Assay

Type:
Laboratory Developed Test
Related tests:
Evidence

News

2ms
Somatic mutations in angiogenesis-related pathways and RNA polymerase II activity in sporadic brain arteriovenous malformations. (PubMed, Front Neurol)
While KRAS mutations were detected at low frequency and allele burden, other genetic alterations in DNA repair and transcriptional machinery may drive or sustain vascular instability. Further functional validation is warranted to clarify their pathogenic role and therapeutic potential.
Journal • Tumor mutational burden
|
KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden)
|
KRAS mutation
|
Oncomine Tumor Mutation Load Assay
over1year
Ipilimumab plus nivolumab (Ipi+Nivo) in patients with tumors harboring high tumor mutational burden or load (TMB/TML-H): Results from the Drug Rediscovery Protocol (DRUP) (ESMO 2024)
P2 | "Ipi+nivo showed notable efficacy and impressive mDOR in pts with TMB/TML-H tumors across tumor types. Higher TMB/TML correlated with CB, offering further opportunities to refine patient selection."
Clinical
|
TMB (Tumor Mutational Burden)
|
TruSight Oncology 500 Assay • Oncomine Tumor Mutation Load Assay
|
Opdivo (nivolumab) • Yervoy (ipilimumab)
over1year
Ipilimumab plus nivolumab (Ipi+Nivo) in patients with tumors harboring high tumor mutational burden or load (TMB/TML-H): Results from the Drug Rediscovery Protocol (DRUP) (ESMO 2024)
Ipi+nivo showed notable efficacy and impressive mDOR in pts with TMB/TML-H tumors across tumor types. Higher TMB/TML correlated with CB, offering further opportunities to refine patient selection.
Clinical • Tumor mutational burden • PD(L)-1 Biomarker
|
TMB (Tumor Mutational Burden)
|
TMB-H
|
TruSight Oncology 500 Assay • Oncomine Tumor Mutation Load Assay
|
Opdivo (nivolumab) • Yervoy (ipilimumab)
over1year
RNF43-mutations are associated with stronger antitumour immune responses and improved outcomes in pancreatic cancer (ECP 2024)
RNF43mut cases show improved clinical outcomes and stronger antitumour immune responses than RNF43wt cases in MSSPDACs. Moreover, RNF43-mutations were significantly more frequent in MSI-PDACs. Our results underscore the need for deeper understanding of molecular factors modulating the biological behaviour and treatment response of PDACs that can help refining the stratification and optimizing the clinical management of patients.
Tumor mutational burden
|
TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • RNF43 (Ring Finger Protein 43) • CD163 (CD163 Molecule) • CD4 (CD4 Molecule) • CD68 (CD68 Molecule)
|
TMB-H • RNF43 mutation
|
Oncomine Tumor Mutation Load Assay
2years
Prognostic Value of Tumor Mutational Burden in Follicular Lymphoma Patients Treated with Immunochemotherapy (ASH 2023)
FL patients harboring t(14; 18) or mutations in genes involved in migration have higher TMB values at diagnosis. Patient stratification based on TMB values allows the identification of a subgroup of FL patients with ≤2.55 mut/Mb with shorter PFS after treatment with frontline ICT. The prognostic usefulness of TMB should also be explored at relapse, in particular in patients receiving novel immunotherapies such as bispecific antibodies and CAR T-cell therapies, that are being approved for relapsed/refractory FL.
Clinical • Tumor mutational burden • IO biomarker
|
TMB (Tumor Mutational Burden) • GNA13 (G Protein Subunit Alpha 13) • ATP6AP2 (ATPase H+ Transporting Accessory Protein 2) • ATP6AP1 (ATPase H+ Transporting Accessory Protein 1)
|
TMB-H • TMB-L • MTOR mutation
|
Oncomine Tumor Mutation Load Assay
over2years
Prognostic impact of molecular profiles and molecular signatures in clear cell ovarian cancer. (PubMed, Cancer Genet)
TMB-High was associated with decreased risk of progression and with an improved PFS and OS. Furthermore, OCCC with mutations in either ARID1A and/or PIK3CA genes had a significantly impaired prognosis compared to the undetermined subgroup in stage adjusted analyses.
Journal • Tumor mutational burden
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A)
|
TMB-H • PIK3CA mutation • ARID1A mutation • TMB-L
|
Oncomine Tumor Mutation Load Assay
over2years
BRAF Mutations Identify Non-small-Cell Lung Cancer Patients Who Benefit from Neoadjuvant Chemo-Immunotherapy (IASLC-WCLC 2023)
Introduction: Treatment with neoadjuvant nivolumab plus chemotherapy has demonstrated high efficacy in patients with locally advanced non-small-cell lung cancer (NSCLC)... Our data suggest that BRAF pathogenic variants may be a good prognostic factor in locally advance NSCLC patients treated with neoadjuvant chemo-immunotherapy.
Clinical • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
|
BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden)
|
BRAF V600E • BRAF mutation • BRAF V600 • BRAF wild-type • BRAF G469V • BRAF L597Q • BRAF G464 • BRAF L597
|
Oncomine™ Pan-Cancer Cell-Free Assay • TruSight Oncology 500 Assay • Oncomine Tumor Mutation Load Assay
|
Opdivo (nivolumab)
over2years
Copy Number Variants and Late Somatic Mutations Underlying Tumor Progression in NADIM Clinical Trials (IASLC-WCLC 2023)
In this study, we report preliminary results of potential molecular mechanisms underlying disease progression in patients treated with neoadjuvant nivolumab plus chemotherapy using plasma samples from NADIM and NADIM II cohorts. A total of 10 plasma samples collected upon disease progression from patients included in NADIM or NADIM II trials were analyzed... Acquisition of somatic-copy number alterations in RET, EGFR and FGFR was found in the plasma samples collected upon disease progression in patients treated with neoadjuvant chemoimmunotherapy (NADIM I and II cohorts) which may have important implications for subsequent treatment selection.
Clinical • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
|
EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • RET (Ret Proto-Oncogene) • FGFR3 (Fibroblast growth factor receptor 3) • STK11 (Serine/threonine kinase 11) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • RNF43 (Ring Finger Protein 43) • SETBP1 (SET Binding Protein 1) • GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A)
|
TP53 mutation • EGFR amplification • STK11 mutation • DNMT3A mutation • TET2 mutation • CBL mutation • RNF43 mutation • FGFR3 amplification • RET amplification
|
TruSight Oncology 500 Assay • Oncomine Tumor Mutation Load Assay
|
Opdivo (nivolumab)
over2years
Clinical • Mismatch repair • Tumor mutational burden • Microsatellite instability • PD(L)-1 Biomarker • IO biomarker
|
PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NOTCH1 (Notch 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • RICTOR (RPTOR Independent Companion Of MTOR Complex 2) • NKX2-1 (NK2 Homeobox 1) • MYCL (MYCL Proto-Oncogene BHLH Transcription Factor) • SYP (Synaptophysin) • HNF1A (HNF1 Homeobox A)
|
PD-L1 expression • TP53 mutation • MSI-H/dMMR • PTEN mutation • ARID1A mutation • STK11 mutation • RB1 mutation • MYCL amplification • RB1 mutation + TP53 mutation
|
Oncomine Tumor Mutation Load Assay
over2years
IMPACT OF TUMOR MUTATIONAL BURDEN ON THE RESPONSE TO IMMUNOCHEMOTHERAPY IN FOLLICULAR LYMPHOMA (ICML 2023)
The study included 51 patients with FL grade 1–3a treated with first line ICT (rituximab, R-CHOP, R-CVP or R-bendamustine). FL patients harboring t(14;18) or mutations in genes of the BCR signaling pathway or involved in migration have higher TMB values at diagnosis. High TMB (≥8 mut/Mb) shows a tendency for longer PFS in FL patients treated with ICT.
Tumor mutational burden • IO biomarker
|
TMB (Tumor Mutational Burden)
|
TMB-H • TMB-L • MTOR mutation
|
Oncomine Tumor Mutation Load Assay
|
Rituxan (rituximab) • bendamustine
over2years
Predictive value of co-existing genetic alterations and tumor mutation burden for patients with completely resected non-small cell lung cancer harboring EGFR mutation: Biomarker analysis of phase III IMPACT study. (ASCO 2023)
Sponsored by Pharmaceutical/Biotech Company, AstraZeneca K.K. Background: Although osimertinib has recently become an option for adjuvant therapy in many countries, biomarkers predicting the efficacy of adjuvant EGFR-TKI and the risk of postoperative recurrence in completely resected NSCLC harboring EGFR mutations have not been fully investigated. This IMPACT-TR study is an exploratory biomarker study for completely resected, EGFR-mutated NSCLC patients who received gefitinib or cisplatin plus vinorelbine (cis/vin) in a phase III IMPACT study (Trial registration number: UMIN000044738... This study suggested that NOTCH1 mutation may be a biomarker to predict poor response to adjuvant gefitinib and CREBBP mutation to predict poor response to cis/vin in patients with completely resected, EGFR-mutated NSCLC. Clinical trial information: UMIN000044738.
P3 data • Clinical • Tumor mutational burden
|
EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • NOTCH1 (Notch 1) • CREBBP (CREB binding protein) • CSMD3 (CUB And Sushi Multiple Domains 3) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1)
|
TP53 mutation • EGFR mutation • NOTCH1 mutation • CREBBP mutation
|
Oncomine Tumor Mutation Load Assay
|
cisplatin • Tagrisso (osimertinib) • gefitinib • vinorelbine tartrate
over2years
Heterogeneity of tumour mutational burden in metastatic NSCLC demonstrated by endobronchial ultrasound sampling. (PubMed, Front Oncol)
Assessment of TMB acquired by EBUS from multiple sites is highly feasible and has the potential to improve accuracy of TMB panels as a companion diagnostic test. We demonstrate similar TMB values across primary and metastatic sites, however 3 out of 10 samples displayed inter-tumoural heterogeneity that would alter clinical management.
Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker • PD(L)-1 companion diagnostic • IO Companion diagnostic • Endobronchial ultrasound • Metastases
|
PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden)
|
KRAS mutation
|
Oncomine Tumor Mutation Load Assay