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    TEST:
    Archer® FusionPlex® Sarcoma kit

    Company:
    Integrated DNA Technologies
    Type:
    Laboratory Developed Test
    Related tests:
    Details
    Evidence

    News

    1year
    RNA-based multiplex polymerase chain reaction and sequencing to detect fusion genes in melanoma (ESMO Asia 2024)
    Conclusions The Archer® FUSIONPlex® custom panel detected fusion genes in 10% of driver gene-negative melanomas. Combining DNA- and RNA-based multiplex sequencing is useful to identify potentially targetable gene alterations.
    Polymerase Chain Reaction • IO biomarker
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    NF1 (Neurofibromin 1) • MERTK (MER Proto-Oncogene, Tyrosine Kinase) • ETV1 (ETS Variant Transcription Factor 1) • MAD1L1 (Mitotic Arrest Deficient 1 Like 1) • MAP3K8 (Mitogen-Activated Protein Kinase Kinase Kinase 8) • RASGRF1 (Ras Protein Specific Guanine Nucleotide Releasing Factor 1) • MEGF8 (Multiple EGF Like Domains 8) • RASGRF2 (Ras Protein Specific Guanine Nucleotide Releasing Factor 2)
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    BRAF mutation • KIT mutation • NF1 mutation • BRAF fusion • CIC deletion
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    Archer® FusionPlex® Sarcoma kit • FusionPlex® Dx
    1year
    Intraosseous spindle cell rhabdomyosarcoma with FET (EWSR1)- TFCP2 and LOC101929418-ALK fusions: a case report and literature review (ECP 2024)
    After unsuccessful chemotherapy, Alectinib (ALK inhibitor) combined with radiotherapy was initiated... Intraosseous spindle cell rhabdomyosarcoma (RMS) with TFCP2 rearrangement is a highly aggressive tumour with an early onset, fast progression and poor response to standard therapies. Our case, one of the few cases described with two gene fusions, contributes to understanding its molecular profile. Further clinical studies are required to explore the efficacy of targeted therapy for ALK and for the development of new effective treatment approaches.
    Review • Clinical • Case report
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    EWSR1 (EWS RNA Binding Protein 1) • TFCP2 (Transcription Factor CP2) • MYOD1 (Myogenic Differentiation 1) • NCOA2 (Nuclear Receptor Coactivator 2)
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    ALK fusion
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    Archer® FusionPlex® Sarcoma kit • FusionPlex® Dx
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    Alecensa (alectinib)
    1year
    NTRK-rearranged spindle cell neoplasms – report of two cases with divergent morphology (ECP 2024)
    Identifying patients with NTRK gene fusions is crucial, as they could benefit from targeted therapy using TRK inhibitors. This requires a detailed description of emerging entities like NTRK-RSCNs because testing for NTRK rearrangement is not routinely performed. In two cases, we report a spectrum of histological grades, including a high-grade phenotype.
    Clinical
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    NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • CD34 (CD34 molecule) • LMNA (Lamin A/C) • SOX10 (SRY-Box 10) • PRAME (Preferentially Expressed Antigen In Melanoma) • NTRK (Neurotrophic receptor tyrosine kinase) • STAT6 (Signal transducer and activator of transcription 6) • SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex)
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    NTRK1 fusion • LMNA-NTRK1 fusion • NTRK fusion
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    Archer® FusionPlex® Sarcoma kit
    1year
    Synovial sarcoms presenting atypical FISH positive pattern with loss of green signal. Molecular characteristics of 2 new cases and systematic review of the literature (ECP 2024)
    Atypical SS18-break apart FISH pattern with loss of green signal should be interpreted as a peculiar unbalanced rearrangement of the SS18 gene and subsequent SS18-SSX fusion (IHC or/and NGS) test should be recommended in such cases. Reseach are partially supported by grant of the The National Centre for Research and Development no. GOSPOSTRATEG-VI/0016/2021.
    Review • Clinical
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    SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex) • SSX1 (SSX Family Member 1)
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    SS18-SSX fusion
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    Archer® FusionPlex® Sarcoma kit • FusionPlex® Dx
    1year
    Myositis ossificans: rare paediatric case diagnosed with FNAB and confirmed by RNA genotyping of cytology sample (ECP 2024)
    When myositis ossificans presents with typical clinical history and a clear zonal pattern on imaging, diagnosis is relatively straightforward. However, in early lesions without typical clinical features the diagnosis may be more challenging and sometimes requires a biopsy. Our case shows that FNAB with supported by immunocytochemistry and RNA genotyping proving COL1A1::USP6 fusion allows accurate diagnosis in less than 6 days and implicates the potential use of molecular methods on FNAB samples of soft tissue lesions.
    Clinical • Cytology
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    COL1A1 (Collagen Type I Alpha 1 Chain) • USP6 (Ubiquitin Specific Peptidase 6) • SATB2 (SATB Homeobox 2)
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    Archer® FusionPlex® Sarcoma kit • FusionPlex® Dx
    1year
    A fibroblastic reticular cell tumour as unexpected diagnosis (ECP 2024)
    Fibroblastic reticular cell tumour (FRCT) is a rare tumour with 21 cases reported in the literature. FRCTs are characterized by cells arranged in a whorls, fascicles or sheets accompanied by lymphoplasmacytic infiltrate. FRCT shows overlapping morphological features with follicular dendritic cell sarcoma (FDCS) and interdigitating dendritic cell sarcoma (IDCS).
    IO biomarker
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    ALK (Anaplastic lymphoma kinase) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • BCL2 (B-cell CLL/lymphoma 2) • CD20 (Membrane Spanning 4-Domains A1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TNFRSF8 (TNF Receptor Superfamily Member 8) • BCL6 (B-cell CLL/lymphoma 6) • CD38 (CD38 Molecule) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CD123 (Interleukin 3 Receptor Subunit Alpha) • EWSR1 (EWS RNA Binding Protein 1) • PAX5 (Paired Box 5) • ALPP (Alkaline Phosphatase, Placental) • CD4 (CD4 Molecule) • CXCL13 (Chemokine (C-X-C motif) ligand 13) • VIM (Vimentin) • CD68 (CD68 Molecule) • IRF4 (Interferon regulatory factor 4) • MME (Membrane Metalloendopeptidase) • IL3RA (Interleukin 3 Receptor Subunit Alpha) • SALL4 (Spalt Like Transcription Factor 4) • TP63 (Tumor protein 63) • PAX8 (Paired box 8) • SPN (Sialophorin) • CR1 (Complement C3b/C4b Receptor 1)
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    CDKN2A deletion • VIM expression
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    Archer® FusionPlex® Sarcoma kit
    1year
    A report of an exceptional case of rhabdomyosarcoma of the tongue harbouring THBS1::ALK fusion and literature review (ECP 2024)
    Rhabdomyosarcomas are a heterogenous group of malignant neoplasms rarely occurring in adults. Immunohistochemical ALK-positivity has been described in RMS, however underlying ALK rearrangements are rare events. This is the first case harboring THBS1::ALK fusion, which was previously described in inflammatory myofibroblastic tumours.
    Review • Clinical
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    ALK (Anaplastic lymphoma kinase) • THBS1 (Thrombospondin 1) • MYOD1 (Myogenic Differentiation 1)
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    ALK rearrangement • ALK fusion
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    Archer® FusionPlex® Sarcoma kit • FusionPlex® Dx
    1year
    CD34-positive spindle cell tumour with FGFR1::TACC1 fusion: entity of uncertain behaviour (ECP 2024)
    In this particular case, the immunohistochemical and molecular results support a diagnosis of a fibroblastic/myofibroblastic tumour of uncertain behaviour. Notably, there have been no reported cases in the literature of a soft tissue tumour harboring FGFR1::TACC1 fusion as a primary occurrence in this anatomical location. The patient remains in good health without any evidence of disease recurrence at the 5-month follow-up post-surgical intervention.
    ALK (Anaplastic lymphoma kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR1 (Fibroblast growth factor receptor 1) • MDM2 (E3 ubiquitin protein ligase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • CD34 (CD34 molecule) • MME (Membrane Metalloendopeptidase) • COL1A1 (Collagen Type I Alpha 1 Chain) • NTRK (Neurotrophic receptor tyrosine kinase) • STAT6 (Signal transducer and activator of transcription 6) • SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex) • TACC1 (Transforming Acidic Coiled-Coil Containing Protein 1)
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    MDM2 amplification • FGFR1 fusion • CD34 positive
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    Archer® FusionPlex® Sarcoma kit • FusionPlex® Dx
    1year
    Challenging presentations of synovial sarcomas: shedding light on the uncommon (ECP 2024)
    Our cases on atypical presentations of SS shows unusual morphological, immunophenotype, and molecular features. We consider it relevant to include SS as a differential diagnosis when faced with pseudo-vascular/alveolar patterns. Even in cases with more typical morphology of SS, there is a possibility of finding negative results in either IHC or FISH techniques due to cryptic or complex rearrangement.
    SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex) • SSX1 (SSX Family Member 1)
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    Archer® FusionPlex® Sarcoma kit
    over1year
    Recurrent USP6 rearrangement in a subset of atypical myofibroblastic tumours of the soft tissues: low-grade myofibroblastic sarcoma or atypical/malignant nodular fasciitis? (PubMed, Histopathology)
    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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    THBS2 (Thrombospondin 2) • USP6 (Ubiquitin Specific Peptidase 6)
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    Archer® FusionPlex® Sarcoma kit • FusionPlex® Dx
    almost2years
    Spindle cell rhabdomyosarcomas: With TFCP2 rearrangements, and novel EWSR1::ZBTB41 and PLOD2::RBM6 gene fusions. A study of five cases and review of the literature. (PubMed)
    "EWSR1/FUS::TFCP2-rearranged SS-RMS is a rare rhabdomyosarcoma subtype, affecting predominantly young adults with average age at presentation 34 years (median 29.5 years; age range 7-86 years), with a predilection for craniofacial bones, rapid clinical course with frequent bone and lung metastases, and poor prognosis (3-year overall survival rate 28%)."
    Journal • Review
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    Archer® FusionPlex® Sarcoma kit • TruSight RNA Pan-Cancer Panel
    over2years
    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