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TEST:
Archer® FusionPlex® Sarcoma kit

Type:
Laboratory Developed Test
Related tests:
Evidence

News

3ms
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
3ms
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
3ms
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.
Clinical • Review • 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)
3ms
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
3ms
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.
Clinical • Review
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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
3ms
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.
Clinical • Review
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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
3ms
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
3ms
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
3ms
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
8ms
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
1year
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
over1year
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
almost2years
Expanding Molecular Spectrum of Quadruple Wild-type GIST and GIST-like Tumors: NGS study of a Series of 17 Cases (USCAP 2023)
Our study revealed 6 new cases of quadruple wild-type GIST or GIST-like tumors with possible oncogenic driver alterations (2.4 % of all our archival cases of GIST). While the case with BCOR-CCNB3 fusion rather represents a CD117-positive GIST-like BCOR -rearranged sarcoma, the remaining 5 cases probably belong to the category of true quadruple wild-type GIST. Whereas mutations in MAX and TP53 were already described previously, we are not aware of any study reporting on mutations of ATM , GNAQ and NUP93 in GIST.
Clinical • Next-generation sequencing
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • FGFR1 (Fibroblast growth factor receptor 1) • ARID1A (AT-rich interaction domain 1A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • GNAQ (G Protein Subunit Alpha Q) • ETV6 (ETS Variant Transcription Factor 6) • BCOR (BCL6 Corepressor) • FGF4 (Fibroblast growth factor 4) • ANO1 (Anoctamin 1) • CHD4 (Chromodomain Helicase DNA Binding Protein 4) • NUP93 (Nucleoporin 93) • MAX (MYC Associated Factor X)
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TP53 mutation • KRAS mutation • EGFR mutation • BRAF mutation • ATM mutation • KIT mutation • NF1 mutation • RAS mutation • FGFR1 mutation • CBL mutation • PDGFRA mutation • NUP93 mutation • PDGFR wild-type
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TruSight Oncology 500 Assay • Archer® FusionPlex® Sarcoma kit
2years
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
Expanding the spectrum of GLI1-altered mesenchymal tumours - a high-grade uterine sarcoma harbouring a novel PAMR1::GLI1 fusion and literature review of GLI1-altered mesenchymal neoplasms of the gynaecologic tract. (PubMed, Genes Chromosomes Cancer)
Altogether, this is a rare and diagnostically challenging case of a uterine sarcoma harbouring a novel GLI1 fusion. Emerging GLI/Hedgehog inhibitors provide clinical relevance to recognising these tumours in modern pathology.
Journal • Review
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CCND1 (Cyclin D1) • GLI1 (GLI Family Zinc Finger 1) • MME (Membrane Metalloendopeptidase)
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Archer® FusionPlex® Sarcoma kit
over2years
Identification of fusion transcripts in sarcoma from archival formalin-fixed paraffin-embedded tissues: A next-generation sequencing approach. (PubMed, Pathol Int)
However, in 18 cases, fragmentation was strong, and high-quality libraries could not be obtained. Nevertheless, comprehensive analysis of fusion genes with high sequence specificity by NGS can be a powerful alternative to reverse transcription-polymerase chain reaction and fluorescence in situ hybridization methods.
Journal • Next-generation sequencing
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Archer® FusionPlex® Sarcoma kit
over2years
Vaginal sarcoma with COL1A1- PDGFB fusion: a rare and newly described fibrosarcoma like neoplasm (ECP 2022)
There is a wide variety of uterine mesenchymal tumours whose understanding improved thanks to recent advances in molecular biology, that allowed to define a new group of uter-ine fibrosarcoma like neoplasms. It includes a new entity with COL1A1- PDGFB fusion, with only 4 cases reported in the lit-erature and not yet described in the WHO classification of female genital tumours. At the time of this work, our patient is doing well, waiting for a radiological examination and neovaginal dehiscence surgery.
CCND1 (Cyclin D1) • BCOR (BCL6 Corepressor) • CD34 (CD34 molecule) • MME (Membrane Metalloendopeptidase) • COL1A1 (Collagen Type I Alpha 1 Chain) • PDGFB (Platelet Derived Growth Factor Subunit B) • STAT6 (Signal transducer and activator of transcription 6) • ANO1 (Anoctamin 1) • SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex)
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CDKN2A negative • COL1A1-PDGFB fusion
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Archer® FusionPlex® Sarcoma kit
over2years
MKL2 rearranged chondroid lipoma - a pitfall in frozen section interpretation (ECP 2022)
Frozen section evaluation of chondroid lipomas present diagnostic challenges. Detection of MKL2 gene fusion is helpful in distinguishing this rare pseudosarcomatous entity from its morphologic differentials and in guiding appropriate patient management.
ZFTA (Zinc Finger Translocation Associated)
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Archer® FusionPlex® Sarcoma kit
over2years
Expanding the spectrum of GLI1-activated mesenchymal tumours – a high-grade uterine sarcoma harbouring a novel PAMR1-GLI1 fusion (ECP 2022)
To the best of our knowledge, this forms the third report of GLI1-rearranged uterine sarcoma. Previous reports showed low-grade epithelioid morphology and harboured canonical fusions (ACTB-GLI1, PTCH1-GLI1). In contrast, this case shows high grade, predominantly spindled morphology and harbours a novel fusion, PAMR1-GLI1.
KIT (KIT proto-oncogene, receptor tyrosine kinase) • CCND1 (Cyclin D1) • PTCH1 (Patched 1) • GLI1 (GLI Family Zinc Finger 1) • MME (Membrane Metalloendopeptidase) • ANO1 (Anoctamin 1)
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GLI1 expression
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Archer® FusionPlex® Sarcoma kit
over2years
Infantile fibrosarcoma with EGFR rearrangement (ECP 2022)
Infantile fibrosarcoma is a tumour classically known to be characterized by ETV6-NTRK3 gene fusion, may have other genetic mutations including EGFR gene rearrangement. Prognostic significance of this new mutation is yet unknown.
EGFR (Epidermal growth factor receptor) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ETV6 (ETS Variant Transcription Factor 6) • NTRK (Neurotrophic receptor tyrosine kinase)
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EGFR mutation • NTRK1 fusion • NTRK3 fusion • ETV6-NTRK3 fusion • EGFR rearrangement
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Archer® FusionPlex® Sarcoma kit
over2years
Extraskeletal myxoid chondrosarcoma with novel NR4A3- PRRC1 fusion (ECP 2022)
Along with the previously reported frequent EWSR1 and other rare fusion partners, PRRC1 can also be a fusion partner of NR4A3 in extraskeletal myxoid chondrosarcoma.
KIT (KIT proto-oncogene, receptor tyrosine kinase) • EWSR1 (EWS RNA Binding Protein 1) • NR4A3 (Nuclear receptor subfamily 4 group A member 3)
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Archer® FusionPlex® Sarcoma kit
over2years
Prevalence of ultra-rare undifferentiated round cells sarcoma of bone and soft tissue after genomic classification. (ASCO 2022)
Chemotherapy was administrated to 36/41 patients (Ewing sarcoma drugs in 16/22 CIC-DUX-4 and 8/11 BCOR-CCNB3; osteosarcoma drugs in 2/11 BCOR-CCNB3, and doxorubicin/ifosfamide in 2/22 CIC-DUX4 and 2/5 URCS; not specified in 6 cases). Prevalence of URCS characterized by a combination of morphologic observation ad molecular techniques is provided. The majority of the cases underwent surgery or surgery combined with radiotherapy, and Ewing-like chemotherapy. The survival difference among different entities underscores the need of accurate subclassification of round cell sarcomas.
BCOR (BCL6 Corepressor) • EWSR1 (EWS RNA Binding Protein 1) • FUS (FUS RNA Binding Protein)
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Archer® FusionPlex® Sarcoma kit
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doxorubicin hydrochloride • ifosfamide
3years
USP6 Fusion Partners Identified by Next Generation Sequencing in Nodular Fasciitis and Cellular Fibroma of Tendon Sheath: An Institutional Experience (USCAP 2022)
"While the MYH9 gene was the most common partner for USP6 in this study, the MYH9-USP6 transcript was present in less than half of this limited cohort. To our knowledge, the HDLBP-USP6 fusion identified represents a yet undescribed fusion in NF. Furthermore, while a SPARC-USP6 fusion transcript has been previously identified in a conventional FTS, we report a SPARC-USP6 fusion in a cellular FTS, illustrating the morphologic and molecular diversity of these lesions."
Clinical
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CTNNB1 (Catenin (cadherin-associated protein), beta 1) • COL1A1 (Collagen Type I Alpha 1 Chain) • MYH9 (Myosin Heavy Chain 9) • RUNX2 (RUNX Family Transcription Factor 2)
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Archer® FusionPlex® Sarcoma kit
3years
Detection of a Novel GLI1 Gene Fusion in Low Grade Endometrial Stromal Sarcoma (USCAP 2022)
In this study, we identified a novel GLI1 fusion in a low-grade ESS that metastasized. ACTB:GLI1 and PTCH1:GLI1 fusions were previously described in a series of ESS (Brahmi et al., Cancers 2020), but authors related them to other soft tissue tumors. Further studies will determine if GLI1 fusions represent a prognostic biomarker and potential target in low-grade ESS.
PTCH1 (Patched 1) • GLI1 (GLI Family Zinc Finger 1) • JAZF1 (JAZF Zinc Finger 1)
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GLI1 expression • PTCH1-GLI1 fusion
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Archer® FusionPlex® Sarcoma kit
3years
Ultra-rare Undifferentiated Round Cells Sarcoma Prevalence and Survival After Genomic Classification (USCAP 2022)
Undifferentiated round cell sarcoma can be further characterized by a combination of morphologic observation ad molecular techniques, which is also helpful in differentiating them from Ewing sarcoma. The survival difference among different entities underscores the need of their accurate subclassification.
BCOR (BCL6 Corepressor) • EWSR1 (EWS RNA Binding Protein 1) • FUS (FUS RNA Binding Protein) • CD99 (CD99 Molecule)
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Archer® FusionPlex® Sarcoma kit
3years
Molecular Analysis of Myxoinflammatory Fibroblastic Sarcoma (MIFS) with High-Grade (HG) Progression Reveals a Novel BRAF-MKLN1 Gene Fusion and Frequent BRAF and VGLL3 Gene Amplifications (USCAP 2022)
Our IHC and molecular results support the hypothesis that the studied cases are indeed related to C-MIFS. Recognizing HG variant of MIFS may prevent undercalling cases with HG areas but predominantly C-MIFS morphology as low-grade sarcomas. Moreover, it seems that BRAF rearrangements are significantly more common in tumors with HG MIFS morphology than in myxofibrosarcomas.
BRAF (B-raf proto-oncogene) • CCND1 (Cyclin D1) • MDM2 (E3 ubiquitin protein ligase) • CD34 (CD34 molecule) • MME (Membrane Metalloendopeptidase) • OGA (O-GlcNAcase)
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CCND1 expression • BRAF amplification
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Archer® FusionPlex® Sarcoma kit
3years
Diverse Histopathologic Patterns of Intracranial Mesenchymal Tumor with FET-CREB Fusion (USCAP 2022)
Intracranial mesenchymal tumors which harbor a FET-CREB fusion have shown a wide range of morphologic features. Here, we present four cases with variable appearances and morphologic findings mimicking other neoplastic and non-neoplastic processes.
EWSR1 (EWS RNA Binding Protein 1) • FUS (FUS RNA Binding Protein) • MUC4 (Mucin 4, Cell Surface Associated) • ATF1 (Activating Transcription Factor 1) • CD99 (CD99 Molecule) • CREB1 (CAMP Responsive Element Binding Protein 1) • SYP (Synaptophysin) • GFAP (Glial Fibrillary Acidic Protein)
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Archer® FusionPlex® Sarcoma kit
3years
THE EFFICACY OF MOLECULAR ANALYSIS IN THE DIAGNOSIS OF BONE AND SOFT TISSUE TUMORS: A 15 YEARS MONO-INSTITUTIONAL EXPERIENCE (CTOS 2021)
We demonstrated the continuing utility of RT-PCR/qRT-PCR, FISH and NGS for tumor diagnosis, and that each has advantages in specific contexts. These ancillary molecular tests are important tools in both defining and excluding diagnoses of tumors. Despite the fact that false-negative results due to poor quality samples can be encountered, these methods demonstrated excellent diagnostic utility for translocation detection in bone and soft tissue tumors.
Clinical
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MDM2 (E3 ubiquitin protein ligase)
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Archer® FusionPlex® Sarcoma kit
over4years
Intraarticular Inflammatory Myofibroblastic Tumor of the Left Knee With ALK-CARS Fusion Detected With Archer Fusionplex Sarcoma NGS Panel: Case Report and Literature Review. (PubMed, Int J Surg Pathol)
"An ALK-CARS fusion was found, supporting the diagnosis of IMT. This report emphasizes the added value of broad molecular analysis in cases with unusual clinical presentation, equivocal immunohistochemistry, and a wide differential diagnosis."
Journal • Clinical
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ALK (Anaplastic lymphoma kinase)
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ALK fusion
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Archer® FusionPlex® Sarcoma kit