^
    3d
    Recurrent USP6 rearrangement in a subset of atypical myofibroblastic tumours of the soft tissues: low-grade myofibroblastic sarcoma or atypical/malignant nodular fasciitis? (PubMed)
    Our findings support the notion that among soft-tissue neoplasms with fibroblastic/myofibroblastic phenotype, USP6 rearrangement is not limited to benign tumours, and warrants further investigation of genetic changes in myofibroblastic sarcomas.
    Journal
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    Archer® FusionPlex® Sarcoma kit • FusionPlex® Dx
    4ms
    Sarcomas with RAD51B Fusions are Associated with a Heterogeneous Phenotype. (PubMed, Mod Pathol)
    Our results expand the spectrum of sarcomas with RAD51B-fusions, demonstrating variable clinical presentations, morphologic spectrum, and fusion partners. These tumors have a predilection for a uterine location, with either LMS, PEComa or undifferentiated phenotypes, and are associated with an aggressive clinical course.
    Journal
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    RAD51B (RAD51 Paralog B) • TSC1 (TSC complex subunit 1) • HMGA2 (High mobility group AT-hook 2)
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    FusionPlex® Dx
    5ms
    Genetic and Cytometric Characteristics of Pediatric B-Other Acute Lymphoblastic Leukemia Cohort (ASH 2023)
    "Our study shows population-based frequencies of novel ALL subtypes, including both recurrent and novel genetic aberrations. This data widens our knowledge on the interplay between molecular aberrations and clinical course of the disease and provides clues for diagnostics optimization."
    Clinical
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    ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • RUNX1 (RUNX Family Transcription Factor 1) • CD74 (CD74 Molecule) • KMT2A (Lysine Methyltransferase 2A) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • PAX5 (Paired Box 5) • STAT3 (Signal Transducer And Activator Of Transcription 3) • IL2RA (Interleukin 2 receptor, alpha) • CD34 (CD34 molecule) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • IL7R (Interleukin 7 Receptor) • CRKL (CRK Like Proto-Oncogene, Adaptor Protein) • TCF3 (Transcription Factor 3) • PBX1 (PBX Homeobox 1) • CHD1 (Chromodomain Helicase DNA Binding Protein 1) • SOCS1 (Suppressor Of Cytokine Signaling 1) • CD99 (CD99 Molecule) • SSBP2 (Single Stranded DNA Binding Protein 2) • BLNK (B Cell Linker)
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    FGFR1 fusion • MLL fusion
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    FusionPlex® Dx
    5ms
    Analytical Performance and Concordance with Next-Generation Sequencing of a Rapid, Multiplexed dPCR Panel for the Detection of DNA and RNA Biomarkers in Non-Small-Cell Lung Cancer. (PubMed, Diagnostics (Basel))
    The population prevalence-based coverage ranged from 89.2% to 100.0% across targets and exceeded 99.0% in aggregate. The assay demonstrated >97% concordance with respect to the comparator method.
    Journal • Next-generation sequencing • Discordant
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    ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • NTRK (Neurotrophic receptor tyrosine kinase)
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    NTRK1 fusion • MET exon 14 mutation
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    FusionPlex® Dx • Oncomine Precision Assay
    6ms
    Deep and Durable Cytogenetic and Molecular Responses with Pemigatinib in Myeloid/Lymphoid Neoplasms with Fibroblast Growth Factor Receptor 1 Rearrangement: The Fight-203 Study (ASH 2023)
    Several new FGFR1 fusion partner genes, including C14orf93, CCDC6, and ETV6 were identified with NGS and PCR profiling. Pemigatinib treatment resulted in marked decreases in the percentages of cells with the FGFR1 rearrangement on FISH, as well as 2–3 log reductions in FGFR1 fusion transcripts in patients with MLNFGFR1. Further investigations are ongoing to determine the relationship between pemigatinib dose intensity and the depth and durability of molecular response.
    FGFR1 (Fibroblast growth factor receptor 1) • CCDC6 (Coiled-Coil Domain Containing 6) • ETV6 (ETS Variant Transcription Factor 6) • TRIM24 (Tripartite Motif Containing 24)
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    FGFR1 fusion • FGFR1 rearrangement
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    FusionPlex® Dx
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    Pemazyre (pemigatinib)
    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
    8ms
    SECONDARY REARRANGEMENT CREATING A PLEC-EML4-ALK DOUBLE FUSION AS A MECHANISM OF RESISTANCE TO CRIZOTINIB IN AN EML4-ALK-POSITIVE INFLAMMATORY MYOFIBROBLASTIC TUMOR (CTOS 2023)
    Secondary rearrangement involving EML4-ALK which places the fusion gene under control of a new promoter may be a novel mechanism of resistance to crizotinib in IMT (and potentially other ALK-fusion-driven malignancies). Alectinib, a more potent ALK inhibitor, overcame resistance in this case. More broadly, this study exemplifies the importance of molecular testing in the setting of resistance to targeted therapy to inform clinical decision making.
    ALK (Anaplastic lymphoma kinase) • EML4 (EMAP Like 4)
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    ALK positive • ALK rearrangement • EML4-ALK fusion • ALK fusion • KIT fusion
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    FusionPlex® Dx • FusionPlex® Pan Solid Tumor v2 panel
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    Xalkori (crizotinib) • Alecensa (alectinib)
    9ms
    Molecular Characteristics of Non-Small Cell Lung Cancer with MET Fusions (IASLC-WCLC 2023)
    MET fusions are a rare, but potentially actionable, genomic alteration. Our study provides a comprehensive characterization of MET fusions in NSCLC, revealing their diverse fusion partners and co-occurring genomic alterations. Further research is warranted to elucidate the clinical implications of MET fusions in the treatment of various types of cancer, including lung cancer.
    Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • KIF5B (Kinesin Family Member 5B) • CAPZA2 (Capping Actin Protein Of Muscle Z-Line Subunit Alpha 2) • GPRC5C (G Protein-Coupled Receptor Class C Group 5 Member C)
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    PD-L1 expression • BRAF V600E • KRAS mutation • EGFR mutation • TMB-H • PD-L1 overexpression • BRAF V600 • EGFR L858R • MET amplification • RET fusion • MET exon 14 mutation • EGFR mutation + KRAS mutation • BRAF L597Q • MET fusion • EGFR E746 • KRAS Q61L • PD-L1-L • BRAF L597
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    PD-L1 IHC 22C3 pharmDx • FusionPlex® Dx • MI Tumor Seek™
    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™
    2years
    Invitae Launches its First CE-IVD Cancer Testing Kits In Europe (Invitae Press Release)
    "Invitae...announced the availability of FusionPlex Dx® and LiquidPlex Dx™ in Europe, part of its industry-leading Anchored Multiplex PCR chemistry in-vitro diagnostic (IVD) products. Invitae is delivering essential high quality innovation for precision oncology in the fight against cancer."
    Launch Europe
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    FusionPlex® Dx • LiquidPlex™