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7ms
The utility of next generation sequencing for KRAS gene variants prevalence in cytological and tissue samples in real-world NSCLC patients: A large single institution real-world study (ESMO Asia 2023)
Tyrosine kinase inhibitors (TKIs)- sotorasib and adagrasib are approved for use in patients(pts) with KRASG12C variant. Conclusions The NGS is feasible for diagnosis of the KRAS mutations in real-world practice. The utility of both cytological and tissue testing is high for NGS profiling with comparable prevalence of the most frequent KRAS variants.
Real-world evidence • Clinical • Next-generation sequencing • Real-world
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KRAS (KRAS proto-oncogene GTPase)
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KRAS mutation • KRAS G12C • KRAS G12
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Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit
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Lumakras (sotorasib) • Krazati (adagrasib)
7ms
Molecular characterization of biliary tract cancer at a single comprehensive cancer center focusing on DNA damage repair genes. (DGHO 2023)
Pathogenic alterations in DDR pathway genes were seen in 13.5% of the cases studied. DDR-deficient BTC patients showed a trend for better OS and TTE representing a potential subgroup that could benefit from targeted treatment strategies, like PARP-inhibitors. and more prospective data are needed.
PARP Biomarker
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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TP53 mutation • KRAS mutation • BRAF mutation • PIK3CA mutation • FGFR2 mutation • FGFR2 fusion
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AmoyDx® HRD Focus Panel • Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit
8ms
EXPLORING THE IMPACT OF NGS ON DIAGNOSTICS AND TREATMENT OF SARCOMA: INSIGHTS FROM REAL-WORLD DATA ACROSS MULTIPLE INSTITUTIONS IN EUROPE (CTOS 2023)
Various NGS technologies and platforms are increasingly used in oncology centers, primarily for therapeutic indications. Unlike most cancer types, the indication of NGS to provide some aid in diagnosis is paradigmatic in the case of sarcomas, given the pleiad and complexity of the histotypes of sarcomas. On the other hand, the therapeutic options for patients with sarcoma are limited, and NGS testing offers the promise of finding targetable alterations.
Real-world evidence • Clinical • Tumor mutational burden • Next-generation sequencing • Real-world
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • RB1 (RB Transcriptional Corepressor 1) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • EWSR1 (EWS RNA Binding Protein 1) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • NTRK (Neurotrophic receptor tyrosine kinase) • STAT6 (Signal transducer and activator of transcription 6) • DUX4 (Double Homeobox 4) • NAB2 (NGFI-A Binding Protein 2)
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TP53 mutation • PIK3CA mutation • TMB-L
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FoundationOne® CDx • Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit • Archer® FusionPlex® Sarcoma kit • FusionPlex® Dx
9ms
DNA damage repair pathways in biliary tract cancer: A new target for precision medicine? (ESMO 2023)
DDR-deficient BTC patients showed a trend for better OS and TTE representing a potential subgroup that could benefit from targeted treatment strategies, like PARP-inhibitors. Moreover the slight benefit of DDR-mutated BTC under platinum-based therapy supports the hypothesis of better response of DDR-mutated tumours to platinum.
PARP Biomarker
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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TP53 mutation • KRAS mutation • BRAF mutation • PIK3CA mutation • FGFR2 mutation
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AmoyDx® HRD Focus Panel • Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit
10ms
Next Generation Sequencing Analysis and its Benefit for Targeted Therapy of Lung Adenocarcinoma. (PubMed, Cancer Genomics Proteomics)
As lung adenocarcinoma patients significantly benefit from targeted therapy, the assessment of mutational profiles using NGS could become a crucial approach in the routine management of oncological patients.
Journal • Next-generation sequencing
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EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • EML4 (EMAP Like 4) • CD74 (CD74 Molecule)
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EML4-ALK fusion • ALK fusion • ROS1 fusion • ALK-ROS1 fusion
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Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit
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Alecensa (alectinib)
11ms
EGFR and ERBB2 exon 20 insertion/duplication in advanced non-small cell lung cancer: genomic profiling and clinicopathologic features. (PubMed, Front Oncol)
US Food and Drug Administration has approved mobocertinib and amivantamab for targeting tumors with this aberration, but the number of comprehensive studies on ex20 ins/dup NSCLC is limited. NSCLCs harboring EGFR/ERBB2 ex20 ins/dup are rare and tend to be acinar predominant, negative for PD-L1, more frequent in non- or light smokers, and mutually exclusive with other driver mutations in NSCLC. The correlation of different EGFR/ERBB2 ex20 ins/dup variants and co-existing mutations with response to targeted therapy and the possibility of developing resistant mutations after mobocertinib treatment warrants further investigation.
Journal • PD(L)-1 Biomarker • IO biomarker • EGFR exon 20 • HER2 exon 20 • Metastases
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • MSI (Microsatellite instability) • CDK4 (Cyclin-dependent kinase 4) • TYK2 (Tyrosine Kinase 2)
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PD-L1 expression • EGFR mutation • EGFR L858R • HER-2 mutation • EGFR exon 19 deletion • EGFR exon 20 insertion • PD-L1 negative • CDK4 amplification • EGFR exon 20 mutation • HER-2 exon 23 mutation
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PD-L1 IHC 22C3 pharmDx • Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit
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Rybrevant (amivantamab-vmjw) • Exkivity (mobocertinib)
1year
Efficacy of Immunotherapy in Second-Line Treatment of KRAS-Mutated Patients with Non-Small-Cell Lung Cancer-Data from Daily Practice. (PubMed, Curr Oncol)
Results A total of 96 pts with chemotherapy-pre-treated advanced NSCLC (CS III-IV) were qualified for nivolumab or atezolizumab treatment following a molecular diagnosis by the NGS and the exclusion of EGFR and ALK gene abnormalities. The treatment sequence, including molecularly targeted drugs such as sotorasib and adagrasib, is still discussed. The NGS is a valuable method to identify a variety of molecular abnormalities in patients with NSCLC in daily practice.
Journal • PD(L)-1 Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase)
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KRAS mutation • EGFR mutation • KRAS G12C • KRAS wild-type • ALK mutation • RAS wild-type
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Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit
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Opdivo (nivolumab) • Tecentriq (atezolizumab) • Lumakras (sotorasib) • Krazati (adagrasib)
over1year
Integrated DNA Technologies Acquires ArcherDX Next Generation Sequencing Research Assays from Invitae Corporation (Integrated DNA Technologies Press Release)
"Integrated DNA Technologies, Inc....announced it closed on the purchase of Next Generation Sequencing (NGS) research assays from Invitae Corporation (NYSE: NVTA) under the trademarked name Archer. The integration of IDT’s portfolio with the acquired NGS research assays—which have been foundational in researching novel cancer fusions—will empower labs with an all-in-one solution to uncover biomarkers and advance cancer discoveries. The transaction enables IDT to expand its existing operations, build upon the legacy Archer portfolio, and welcome more than 100 new associates globally....Transaction Details-IDT purchased Archer NGS research assays—which reported high double-digit growth since 2019—from Invitae for cash consideration of approximately $48 million, subject to certain adjustments. The transaction is structured as an asset deal and includes a license to intellectual property related to the AMP technology."
M&A
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Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit • Archer® FusionPlex® Acute Lymphoblastic Leukemia (ALL) • Archer® FusionPlex® Lung Kit • Archer® FusionPlex® Lymphoma • Archer® FusionPlex® Myeloid Kit • Archer® FusionPlex® Oncology Research Kit • Archer® FusionPlex® Sarcoma kit • Archer® VariantPlex® Comprehensive Thyroid and Lung (CTL) kit • Archer® VariantPlex® Myeloid panel • Archer® VariantPlex® Solid Tumor Kit • FusionPlex® Dx • FusionPlex® Pan Solid Tumor v2 panel • FusionPlex™ Heme v2 panel • FusionPlex™ Pan-Heme panel • LiquidPlex™
over1year
Molecular characterization of biliary tract cancers treated at the West German Cancer Center Essen (DKK 2022)
We report a well-characterized cohort of BTC patients analyzed with three molecular assays. The 7% of BTC patients with DDR deficiency might be another subgroup suitable for targeted therapies, i.e. PARP inhibition.
PARP Biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR2 (Fibroblast growth factor receptor 2) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • NRG1 (Neuregulin 1) • BAP1 (BRCA1 Associated Protein 1)
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TP53 mutation • KRAS mutation • PIK3CA mutation • ARID1A mutation • FGFR2 fusion • NRG1 fusion • NRG1 fusion
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AmoyDx® HRD Focus Panel • Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit
over1year
NTRK fusion genes in cholangiocarcinoma (ECP 2022)
We identified NTRK3 expression imbalance in one (1.1%) of 93 CCA tumours but this could not be confirmed with NGS. Our results show limited specificity of pan-TRK IHC to identify NTRK fusions. Pan-TRK IHC can thus be utilized as a screening technique for NTRK fusions in CCA, but positive samples require confirmatory testing with RNA-based methods.
NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK (Neurotrophic receptor tyrosine kinase)
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NTRK expression • NTRK fusion
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Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit • Idylla™ GeneFusion Assay • VENTANA pan-TRK (EPR17341) Assay
2years
Oncogenic Fusions in Gliomas: An Institutional Experience. (PubMed, Anticancer Res)
"The introduction of NGS techniques provides additional information about tumour molecular alterations that can aid the multimodal management of glioma patients. Patients with gliomas positive for particular targetable gene fusions may benefit from experimental therapeutics, enhancing their quality of life and prolonging survival rates."
Journal
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • TACC3 (Transforming acidic coiled-coil containing protein 3) • KIAA1549 • EWSR1 (EWS RNA Binding Protein 1) • SEPTIN14 (Septin 14) • TACC1 (Transforming Acidic Coiled-Coil Containing Protein 1) • AMBRA1 (Autophagy And Beclin 1 Regulator 1) • RELA (RELA Proto-Oncogene) • ZFTA (Zinc Finger Translocation Associated)
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FGFR2 fusion • ALK fusion • FGFR fusion • KIAA1549-BRAF fusion • BRAF fusion • FGFR1 fusion • MET fusion • FGFR1-TACC1 fusion • KIT fusion
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Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit • FusionPlex® Pan Solid Tumor v2 panel • TruSight Tumor 170 Assay
over2years
Genomic Profiling of Pancreatic Ductal Adenocarcinoma, Intrahepatic and Extrahepatic Cholangiocarcinoma (USCAP 2022)
"Our data show that the presence of IDH1, BAP1 mutation and FGFR2 fusion supports the diagnosis of iCCA. Tumors with loss of CDKN2A/B and/or SMAD4 and ATM mutations were most likely PDC. Our results support the previous molecular findings in CCA and PDC."
KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • BAP1 (BRCA1 Associated Protein 1) • SMAD4 (SMAD family member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • BICC1 (BicC Family RNA Binding Protein 1) • SORBS1 (Sorbin And SH3 Domain Containing 1)
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TP53 mutation • KRAS mutation • KRAS G12C • IDH1 mutation • ATM mutation • FGFR2 mutation • FGFR2 fusion • KRAS G12R • FGFR fusion • BAP1 mutation • KRAS G12 • KRAS Q61H • TP53 mutation + KRAS mutation • FGFR2-SORBS1 fusion • BAP1 mutation + FGFR2 fusion
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Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit
over2years
EGFR and ERBB2 Exon 20 Insertion in Advanced Non-Small Cell Lung Cancer: Genomic Profiling and Clinicopathologic Features (USCAP 2022)
"FDA recently approved Mobocertinib and Amivantamab which target these ex20 ins/dup. NSCLCs harboring EGFR/ERBB2 ex20 ins/dup seemed to be acinar predominant, negative for PD-L1, more frequent in non/light smokers, and mutually exclusive with other driver mutations. Ex20 ins/dup is rare, and the targeted therapy was approved only 6 months ago. The correlation of this variant with histology and response to targeted therapy warrants further investigation."
Clinical
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • MSI (Microsatellite instability)
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PD-L1 expression • EGFR L858R • EGFR exon 19 deletion • EGFR exon 20 insertion • PD-L1 negative • EGFR exon 20 mutation
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PD-L1 IHC 22C3 pharmDx • Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit
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Rybrevant (amivantamab-vmjw) • Exkivity (mobocertinib)
over2years
[VIRTUAL] NTRK gene fusions in MLH1 deficient and BRAFV600E wild-type colorectal cancers (ECP 2021)
"Our study shows that Pan-Trk IHC detects NTRK1 fusions with 100% specificity in CRC. Our results confirm that NTRK1 fusions are frequently detected in dMLH1/BRAFV600Ewt (11%) and especially in dMLH1/MLH1ph/BRAFV600Ewt (16%) CRCs justifying screening for NTRK fusions in these subsets of CRCs. Our findings of NTRK1 fusions with partners LMNA, PLEKHA6 and TPM3 in CRC are consis- tent with previous studies but noteworthy, we introduce a novel IRF2BP2-NTRK1 fusion in CRC."
NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • MLH1 (MutL homolog 1) • TPM3 (Tropomyosin 3) • LMNA (Lamin A/C) • NTRK (Neurotrophic receptor tyrosine kinase)
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BRAF V600E • BRAF V600 • NTRK1 fusion • TPM3-NTRK1 fusion • LMNA-NTRK1 fusion • NTRK fusion
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Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit • VENTANA pan-TRK (EPR17341) Assay