^
    8d
    Implementation of Liquid Biopsy for Clinical Somatic Variant Testing of Solid Tumors (AMP 2024)
    This study demonstrates the feasibility of implementing cfDNA tumor profiling from blood in our laboratory. This assay provides sensitive detection of genomic variants in a cfDNA sample . Initially, the reporting will be performed for 64 genes covering only SNVs and insertions/deletions.
    Clinical • Liquid biopsy • Biopsy
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
    |
    TruSight Tumor 170 Assay
    8d
    Novel Nanopore-Based Copy Number Analysis for Ultrafast Renal Tumor Classification (AMP 2024)
    In this study, we applied the iSCORED pipeline for ultrafast, genome-wide CNV information of renal tumors with results showing complete concordance with established CNV analysis methods. This method could facilitate pathological diagnosis and potentially inform targeted treatment in less than 2 hours. Future directions include expanding analyzed tumor types and integrating methylation classification into the pipeline.
    OncoScan™ CNV Assay • TruSight Tumor 170 Assay
    1m
    Homologous recombination deficiency (HRD) in biliary carcinomas: clinical significance and correlation with platinum response (DGHO 2024)
    In second-line treatment, no difference between an Irinotecan-based regimen and re-exposure to platinum-based agents (12.36 vs 10.13 months; HR 0.92; P=0.85) could be observed (HR 1.45; P=0.35). HRRm BTC patients showed a potential advantage in OS following platinum-based first-line chemotherapy, presumably attributed to enhanced opportunities for targetable co-alterations. Further investigation is needed to delineate HRD in the context of personalizing systemic therapies of BTC.
    Clinical
    |
    HRD (Homologous Recombination Deficiency) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1)
    |
    HRD
    |
    FoundationOne® CDx • Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit • TruSight Tumor 170 Assay
    |
    irinotecan
    2ms
    Analytical and Clinical Validation of the Oncomine Dx Target Test to Assess HER2 Mutation Status in Tumor Tissue Samples From Patients With Non-Small Cell Lung Cancer Treated With Trastuzumab Deruxtecan in the DESTINY-Lung01 and DESTINY-Lung02 Studies. (PubMed, Arch Pathol Lab Med)
    Response duration was 12.0 and 9.3 months for patients identified by the ODxT Test and CTAs, respectively, in DESTINY-Lung01. The ODxT Test detected HER2 mutations in NSCLC with high analytical and clinical accuracy and identified HER2m populations with response rates similar to populations identified by CTAs, supporting clinical utility of the ODxT Test to inform treatment decisions for HER2m NSCLC.
    Journal
    |
    HER-2 (Human epidermal growth factor receptor 2)
    |
    HER-2 mutation
    |
    Oncomine™ Dx Target Test • TruSight Tumor 170 Assay
    |
    Enhertu (fam-trastuzumab deruxtecan-nxki)
    3ms
    Cancer Molecular Screening and Therapeutics (MoST) Program Substudy Addendum 7: Tremelimumab (clinicaltrials.gov)
    P2; Active, not recruiting --> Completed
    Trial completion • Metastases
    |
    CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4)
    |
    FoundationOne® CDx • TruSight Oncology 500 Assay • TruSight Tumor 170 Assay
    |
    Imjudo (tremelimumab)
    7ms
    Homologous recombination repair (HRR) deficiency in biliary tract cancers: Clinical implications in subsequent therapy lines and correlation with platinum sensitivity (ESMO-GI 2024)
    A trend for a clinical benefit of second-line therapy with re-exposure to platinum-based agents as compared to irinotecan-based regimens was observed (HR= 0.79, 95%CI 0.34-1.8, P= 0.56)... Platinum-based chemotherapy associates with more favorable outcomes in HRRm BTC patients. Further investigation is needed to delineate HRD in the context of personalizing systemic therapies of BTC.
    Clinical
    |
    HRD (Homologous Recombination Deficiency)
    |
    FoundationOne® CDx • AmoyDx® HRD Focus Panel • Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit • TruSight Tumor 170 Assay
    |
    irinotecan
    9ms
    First NGS-based companion diagnostic to aid in selecting non-small cell lung cancer patients with ERBB2 (HER2) activating mutations for treatment with trastuzumab deruxtecan (AACR 2024)
    The 6 AV studies met the necessary product requirements and acceptance criteria to detect clinical samples with ERBB2 mutations. Additionally, the CV study clinical accuracy and clinical efficacy results demonstrated the safety and effectiveness of the use of the ODxTT in FFPE samples as an aid to identify NSCLC patients eligible for treatment with the Daiichi Sankyo lung cancer therapeutic T-DXd.
    Clinical • Next-generation sequencing • Companion diagnostic
    |
    HER-2 (Human epidermal growth factor receptor 2)
    |
    HER-2 mutation • MET mutation
    |
    Oncomine™ Dx Target Test • TruSight Tumor 170 Assay
    |
    Enhertu (fam-trastuzumab deruxtecan-nxki)
    9ms
    Validation and implementation of whole-transcriptome sequencing assay into cancer care: An experience from a cancer center (AACR 2024)
    Moreover, simultaneously available transcript quantification and variant calling provide the ability to implement several disease classifiers. This work lays the foundation for integration with our clinically available tumor exome sequencing assay to allow joint exome transcriptome analysis in a single informatics platform.
    TruSight Tumor 170 Assay
    9ms
    Mutational Analysis of Circulating Tumor DNA in Patients With Estrogen Receptor-Positive/Human Epidermal Growth Factor Receptor 2-Negative Advanced Breast Cancer Receiving Palbociclib: Results From the TREnd Trial. (PubMed, JCO Precis Oncol)
    Mutations in ESR1 and in PI3K pathway genes at T0 were associated with worse prognosis in palbociclib-treated patients. We describe the emergence of newly acquired mutations in palbociclib-treated patients, which might potentially affect subsequent treatment.
    Journal • Circulating tumor DNA • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR2 (Fibroblast growth factor receptor 2) • CDK4 (Cyclin-dependent kinase 4)
    |
    TP53 mutation • ER positive • HER-2 negative • PIK3CA mutation • FGFR2 mutation • ER mutation • ESR1 mutation • EGFR positive • CDK4 mutation
    |
    TruSight Tumor 170 Assay
    |
    Ibrance (palbociclib)
    9ms
    Angiomyolipomatous Lesions of the Nasal Cavity: A Multi-Institutional Immunohistochemical and Molecular Study (USCAP 2024)
    Nasal cavity AMLs lack morphologic, immunophenotypic, and genetic features of PEComa family AMLs. The significant histologic overlap between nasal AML and ALM and the lack of identifiable distinctive molecular signatures suggests that they are the same or closely related, and that they may represent hamartomas.
    Clinical
    |
    NOTCH2 (Notch 2) • TSC1 (TSC complex subunit 1) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • MLANA (Melan-A) • MITF (Melanocyte Inducing Transcription Factor)
    |
    TruSight Tumor 170 Assay
    10ms
    Cancer Molecular Screening and Therapeutics (MoST) Program Substudy Addendum 7: Tremelimumab (clinicaltrials.gov)
    P2; Recruiting --> Active, not recruiting
    Enrollment closed
    |
    CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4)
    |
    FoundationOne® CDx • TruSight Tumor 170 Assay
    |
    Imjudo (tremelimumab)
    12ms
    Detection of Novel Tyrosine Kinase Fusion Genes as Potential Therapeutic Targets in Bone and Soft Tissue Sarcomas Using DNA/RNA-based Clinical Sequencing. (PubMed, Clin Orthop Relat Res)
    DNA- and RNA-based screening systems may be useful for detecting tyrosine kinase fusion genes in specific fusion-negative sarcomas and identifying key therapeutic targets, leading to possible breakthroughs in the treatment of bone and soft tissue sarcomas. Given that current DNA sequencing misses fusion genes, RNA-based screening systems should be widely considered as a worldwide test for sarcoma. If standard treatments such as chemotherapy are not effective, or even if the sarcoma is of bone, RNA sequencing should be considered to identify as many therapeutic targets as possible.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • RET (Ret Proto-Oncogene) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • KDR (Kinase insert domain receptor) • CDK4 (Cyclin-dependent kinase 4) • LMNA (Lamin A/C) • CLTC (Clathrin Heavy Chain) • NTRK (Neurotrophic receptor tyrosine kinase) • CEP290 (Centrosomal Protein 290) • FOXP2 (Forkhead Box P2)
    |
    NTRK1 fusion • NTRK3 fusion • ALK fusion • LMNA-NTRK1 fusion • NTRK3 positive • NTRK positive • NTRK fusion
    |
    TruSight Tumor 170 Assay
    |
    Vitrakvi (larotrectinib)
    1year
    Examining Rare Genitourinary Cancers for Genetic Biomarkers to Explore Potential Targeted Therapy Options (AMP 2023)
    Data from this small cohort of rare tumors suggest that SCNC and SqCB exhibit common driver/targetable mutations seen in other hematologic and solid tumors that might represent new therapeutic targets in these rare tumor types. Our identification of mutations unique to different histologies in the same tumor argues for independent sequencing of different histologies to broaden the search for targetable mutations.
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR3 (Fibroblast growth factor receptor 3) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • CCND1 (Cyclin D1)
    |
    TP53 mutation • PIK3CA mutation • NF1 mutation • FGFR3 mutation • CDKN2A mutation • CCND1 amplification • FGFR3 fusion • TERT mutation • TERT promoter mutation
    |
    TruSight Tumor 170 Assay
    1year
    NTRK Fusions and Concomitant Immune and Genomic Landscape Detected by DNA and RNA NGS in a Large Healthcare System (AMP 2023)
    Here we report a large cohort of NTRK fusions detected in a broad range of tumor types during routine clinical care in the community setting. The number of unique and novel fusion partners identified highlights the value of RNAbased NGS, and demonstrates that when performed along with DNA NGS, provides a comprehensive assessment of NTRK fusions and actionable gene alterations to inform the routine clinical care of cancer patients.
    Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker • Next-generation sequencing
    |
    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • EML4 (EMAP Like 4) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • ETV6 (ETS Variant Transcription Factor 6) • TPM3 (Tropomyosin 3) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    PD-L1 expression • TMB-H • MSI-H/dMMR • PD-L1 overexpression • NTRK1 fusion • NTRK3 fusion • NTRK2 fusion • IDH1 mutation • TPM3-NTRK1 fusion • NTRK fusion
    |
    TruSight Oncology 500 Assay • TruSight Tumor 170 Assay
    1year
    Impact of Clinical Sample Formalin Fixation Duration on NGS RNA Sequencing Quality Metrics (AMP 2023)
    Specimens that were exposed to formalin for less than two days were significantly more likely to meet our RNA sequencing quality standards compared to specimens that spent three or four days in formalin. These results could be used to adjust workflows to allow optimization of the use of FFPE tissue samples in clinical molecular diagnostics.
    Clinical • Next-generation sequencing
    |
    TruSight Tumor 170 Assay
    1year
    Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel. (PubMed, Diagnostics (Basel))
    Parallel analysis of 47 iCCA samples with the Illumina TruSight Tumor 170 kit confirmed good performance of our NGS panel. In conclusion, targeted RNA sequencing coupled with the 3' RACE technology is an efficient tool for the molecular diagnostics of BTCs.
    Journal • PD(L)-1 Biomarker • IO biomarker • Next-generation sequencing
    |
    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2)
    |
    PD-L1 expression • BRAF V600E • KRAS mutation • HER-2 amplification • PIK3CA mutation • BRAF V600 • HER-2 mutation • HER-2 expression • MET exon 14 mutation • FGFR2 mutation • FGFR1 expression • PIK3CA expression
    |
    TruSight Tumor 170 Assay
    over1year
    GENOMIC PROFILING OF GYNAECOLOGICAL SARCOMAS: REPORT FROM THE AUSTRALIA-WIDE PRECISION ONCOLOGY PROGRAM (CTOS 2023)
    Pt with PEComa harbouring a BRCA2 mutation and high TMB (20.3 mut/Mb) was treated on a matched MoST trial of olaparib and durvalumab (ACTRN12617001000392), achieving a complete radiological response and remained progression free at 22.6 mo. Molecular characterization of GS through CGP may be prognostic and can also identify actionable alterations in small subsets of patients that can help delineate this heterogeneous group.
    Tumor mutational burden • PD(L)-1 Biomarker • PARP Biomarker • BRCA Biomarker
    |
    ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • EML4 (EMAP Like 4) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • TIMP3 (TIMP Metallopeptidase Inhibitor 3)
    |
    TP53 mutation • BRCA2 mutation • TMB-H • NTRK3 fusion • PTEN mutation • ALK fusion • TSC2 mutation • EML4-NTRK3 fusion
    |
    FoundationOne® CDx • TruSight Oncology 500 Assay • TruSight Tumor 170 Assay
    |
    Lynparza (olaparib) • Imfinzi (durvalumab) • Vitrakvi (larotrectinib)
    over1year
    LUMOS - Low and Intermediate Grade Glioma Umbrella Study of Molecular Guided TherapieS at relapse: Protocol for a pilot study. (PubMed, BMJ Open)
    Results will be disseminated using a range of media channels including newsletters, social media, scientific conferences and peer-reviewed publications. ACTRN12620000087954; Pre-results.
    Journal
    |
    TruSight Tumor 170 Assay
    over1year
    Analytical and clinical validation of Oncomine Dx Target (ODxT) test and local testing for identifying patients with HER2 (ERBB2)-mutant (HER2m) non–small-cell lung cancer (NSCLC) for treatment with trastuzumab deruxtecan (T-DXd) in DESTINY-Lung01/02 (DL-01/02). (ASCO 2023)
    This study demonstrates the analytical and clinical accuracy of the ODxT Test as a CDx for detecting activating HER2 mutations in NSCLC to identify pts who may benefit from T-DXd. A high level of agreement was also shown between the ODxT Test and CTAs. Clinical trials for HER2m NSCLC may successfully use a central testing assay as a CDx while allowing adequately validated local testing assays to expedite patient enrollment.
    Clinical
    |
    HER-2 (Human epidermal growth factor receptor 2)
    |
    HER-2 mutation • MET mutation
    |
    Oncomine™ Dx Target Test • TruSight Tumor 170 Assay
    |
    Enhertu (fam-trastuzumab deruxtecan-nxki)
    over1year
    Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next-generation sequencing panel: A preliminary study. (PubMed, Cancer Med)
    This preliminary study shows the possibility to detect somatic mutations in tumor and plasma of HNSCC patients using a single assay that would facilitate the clinical implementation of personalized medicine in the clinic.
    Journal • Next-generation sequencing • Metastases
    |
    TruSight Tumor 170 Assay
    over1year
    Utility of Retrospective Molecular Analysis in Diagnostically Challenging Mesenchymal Neoplasms. (PubMed, Int J Surg Pathol)
    "Molecular testing helped reach a definitive diagnosis in 50% of tumors (n = 5/10). Although the overall utility of this approach is limited, these molecular panels can be helpful in detecting a specific "driver" alteration."
    Journal • Retrospective data
    |
    OncoScan™ CNV Plus Assay • TruSight Tumor 170 Assay
    2years
    Pancreatic Mixed Acinar-Neuroendocrine Carcinoma: a Single Institutional Genomic Characterization Report (NANETS 2022)
    Significance of these mutations identified in this rare tumor is yet unknown. Our search of Dartmouth pathology database is ongoing to identify more cases in the last 10 years and to complete genomic analysis on these cases.
    Clinical
    |
    FGFR1 (Fibroblast growth factor receptor 1) • BARD1 (BRCA1 Associated RING Domain 1) • DDR2 (Discoidin domain receptor 2)
    |
    FGFR1 fusion • BARD1 mutation
    |
    TruSight Tumor 170 Assay
    2years
    Analysis of Genetic Alterations Using Next-Generation Sequencing in Primary and Metastatic Colorectal Adenocarcinomas (AMP 2022)
    This study shows that a majority of the genetic alterations within the colorectal adenocarcinomas sequenced involved the APC gene. With this expanded genetic analysis, we are able to provide more potential avenues of treatments for those patients who initially fail currently recommended therapies.
    Next-generation sequencing
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • APC (APC Regulator Of WNT Signaling Pathway)
    |
    TruSight Tumor 170 Assay
    2years
    Circulating tumor cells, immunohistochemical subtypes, and genes mutation as prognostic markers in HER2 negative metastatic breast cancer patients candidates to chemotherapy (SABCS 2022)
    AARES is an open label multicentric randomised phase 2 trial comparing a DNA-damaging (arm A: cisplatin 25 mg/m2/day, day 1-3 + cyclophosphamide 600 mg/m2 day 1) versus (vs) a non-DNA-damaging (arm B: capecitabine 1000 mg/m2 bid/day, day 1-14 + vinorelbine 60 mg/m2/day, day 1,8) CT regimen in pts with HER2 negative MBC. CTCs and tumor subtypes were not predictive of response to CT regimens in HER2 negative MBC pts. A number of CTC >5 in TN MBC, and mutations in the PI3K/AKT pathway, identified a subgroup of pts with worse prognosis, potentially candidates for alternative treatments. Further studies are needed to confirm these results in a larger population.
    Clinical • Circulating tumor cells • BRCA Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)
    |
    TP53 mutation • BRCA2 mutation • BRCA1 mutation • HER-2 negative • PIK3CA mutation
    |
    TruSight Tumor 170 Assay
    |
    cisplatin • capecitabine • cyclophosphamide • vinorelbine tartrate
    2years
    Supratentorial glioblastoma with spinal metastasis: a case report with molecular profiling (EANO 2022)
    Based on the literature evidence, the inactivation of NF1, NOTCH3, and ARID1A could explain, at least in part, the acquired invasiveness and metastatic potential in this particular GBM case.
    Clinical
    |
    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • KIF5B (Kinesin Family Member 5B) • NOTCH3 (Notch Receptor 3) • ARG1 (Arginase 1) • EIF2B4 (Eukaryotic Translation Initiation Factor 2B Subunit Delta)
    |
    TP53 mutation • PTEN mutation • NF1 mutation • IDH wild-type
    |
    TruSight Tumor 170 Assay
    over2years
    Costs of Next-Generation Sequencing Assays in Non-Small Cell Lung Cancer: A Micro-Costing Study. (PubMed, Curr Oncol)
    Trusight Tumor 170 Kit was the most expensive NGS assay for NSCLC diagnostics; however, an economic evaluation is required to identify the most cost-effective NGS assay. Our study results could help inform decisions to select a robust platform for NSCLC diagnostics from fine needle aspirates, and future economic evaluations of the NGS platforms to guide treatment selections for NSCLC patients.
    Journal • Next-generation sequencing
    |
    Oncomine Focus Assay • TruSight Tumor 170 Assay
    over2years
    BRCA1/2 and ATM mutated metastatic prostate cancers may present with low serum PSA (AUA 2022)
    In localized subgroup (N0 and M0, n=64), PSA was not significantly different (58ng/mL vs 26ng/mL, p=0.30). Conclusions : BRCA1/2 and ATM mutated metastatic prostate cancers may present with low serum PSA.
    PARP Biomarker • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency)
    |
    ATM mutation
    |
    TruSight Oncology 500 Assay • TruSight Tumor 170 Assay
    over2years
    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
    |
    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)
    |
    FGFR2 fusion • ALK fusion • FGFR fusion • KIAA1549-BRAF fusion • BRAF fusion • FGFR1 fusion • MET fusion • FGFR1-TACC1 fusion • KIT fusion
    |
    Archer® FusionPlex® Comprehensive Thyroid & Lung (CTL) Kit • FusionPlex® Pan Solid Tumor v2 panel • TruSight Tumor 170 Assay
    over2years
    Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing. (PubMed, Cancers (Basel))
    By tumor genotyping-only strategy, 96.1% of HBOC PV/LPV and 97.4% of BRCA PV/LPV were detected. Genotyping of tumor first, followed by germline genotyping seems to be a reasonable approach for detection of PV/LPV in breast and/or ovarian cancer susceptibility genes in non-mucinous EOC patients.
    Real-world evidence • Journal • PARP Biomarker • BRCA Biomarker • Next-generation sequencing
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset)
    |
    TruSight Tumor 170 Assay
    over2years
    p53 Immunohistochemistry and Mutation Types Mismatching in High-Grade Serous Ovarian Cancer. (PubMed, Diagnostics (Basel))
    Indeed, mutations in the oligomerization domain of the p53 protein frequently revealed an unmatched signal or cytosolic staining (L289Ffs*57 (Ins), and R342*). We conclude that both mutation types and IHC patterns of p53 are important sources of information to provide a precise diagnosis of HGSCa.
    Journal
    |
    TP53 mutation
    |
    TruSight Tumor 170 Assay
    almost3years
    RET Splice Site Variants in Medullary Thyroid Carcinoma (USCAP 2022)
    Irrespective of the driving mutation, SSVs in RET occured in high frequency in MTC. The identification of RET SSVs in MTC might represent a novel diagnostic feature for this tumor and may represent an opportunity for better understanding its pathogenesis. Additional work is needed to explore any potential options for targeted therapy for MTC with RET SSVs.
    RET (Ret Proto-Oncogene) • HRAS (Harvey rat sarcoma viral oncogene homolog)
    |
    RET mutation • RET M918T • HRAS mutation • HRAS G13R • NRAS Q61R • HRAS Q61R • HRAS G13R
    |
    TruSight Tumor 170 Assay
    almost3years
    Immunohistochemical Screening for Mesonephric-like Endometrial Carcinoma: Morphologic and Molecular Features of Screen-Positive Cases (USCAP 2022)
    Although mesonephric-like carcinomas comprise <1% of ECAs, their aggressive behavior and frequent misclassification as lower grade endometrioid tumors makes their detection critical. These findings suggest that TTF1 and ER are good first-line screens for a diagnosis mesonephric-like carcinoma, but caution that a TTF1+/ER- immunoprofile is not specific for this diagnosis, even in the setting of KRAS mutations. Thus, a final diagnosis of mesonephric-like endometrial carcinoma first and foremost requires the appropriate morphology, with confirmation through appropriate immunohistochemical staining and, when relevant, additional molecular support.
    Clinical
    |
    KRAS (KRAS proto-oncogene GTPase) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • POLE (DNA Polymerase Epsilon) • NKX2-1 (NK2 Homeobox 1) • MME (Membrane Metalloendopeptidase) • GATA3 (GATA binding protein 3)
    |
    TP53 mutation • KRAS mutation • PTEN mutation • POLE mutation
    |
    TruSight Tumor 170 Assay
    3years
    [VIRTUAL] Validation of a Rapid PCR-Based Assay for BRAF V600 Status for Prognostication and Therapeutic Selection in Colorectal Cancer Patients (AMP 2021)
    Our results demonstrate that the Idylla BRAF Mutation Assay produces accurate, precise results in less than 3 hours, with faster TAT compared to NGS. Single-use cartridges eliminate the need for manual sample preprocessing and the risk of PCR contamination. In addition, this sensitive assay correctly identifies BRAF V600 alterations in samples with necrosis and low tumor cell content.
    Clinical
    |
    BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
    |
    BRAF V600E • NRAS mutation • BRAF V600 • BRAF V600K • BRAF K601E • BRAF L597Q • BRAF V600R • BRAF K601 • BRAF L597
    |
    Idylla™ BRAF Mutation Test • Idylla™ NRAS-BRAF Mutation Test • TruSight Tumor 170 Assay
    3years
    [VIRTUAL] A Bioinformatics-Assisted Tool for Next-Generation Sequencing Variant Review and Molecular Tumor Board Case Referral (AMP 2021)
    Next-generation sequencing using a multi-gene panel to identify somatic variants produces a large amount of data that can be difficult to review, summarize, and identify which cases may have meaningful therapeutic recommendations. Additionally, the rapidly evolving field of cancer genomics adds complexity to variant interpretation. We have developed tools to aid in the summary and review of reported variants, and easily identify cases that should be reviewed by the MTB for further follow-up.
    Review • Clinical • Next-generation sequencing
    |
    TruSight Tumor 170 Assay
    3years
    [VIRTUAL] Evaluation of the Illumina RNA Prep with Enrichment (L) Tagmentation Assay in a Clinical Laboratory Setting (AMP 2021)
    The Illumina RNA Prep with Enrichment (L) Tagmentation panel proved to be an acceptable method for expanded fusion detection. This assay is also designed to detect novel fusions.
    Clinical
    |
    TruSight Tumor 170 Assay
    3years
    [VIRTUAL] Rapid Detection of Solid Tumor Fusions Using a CartridgeBased System (AMP 2021)
    The GENEFUSION assay is an accurate method for rapid fusion detection in ALK, ROS1, RET, and MET exon 14 splice variants. Due to the limited number of NTRK fusion positive cases analyzed, the performance of this gene is unclear. Further evaluation of non-targeted fusions is necessary to evaluate the performance of expression imbalance.
    ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • NCOA4 (Nuclear Receptor Coactivator 4) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    NTRK1 fusion • NTRK3 fusion • NTRK2 fusion • RET fusion • ALK rearrangement • MET exon 14 mutation • ALK fusion • ROS1 fusion • ROS1 positive • RET rearrangement • NCOA4-RET fusion • NTRK2 positive • NTRK positive • NTRK fusion
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    Idylla™ GeneFusion Assay • FusionPlex® Pan Solid Tumor v2 panel • TruSight Tumor 170 Assay