This report offers a thorough characterization of expected prevalence and expression levels for CSFs and NDFs with an NGS study of a broad scope. We describe ESR1 fusions in a cohort of thousands of breast tumors and show lower median expression levels relative to NDFs such as ALK, ROS1, and RET fusions. Our findings suggest that some CSFs, like ESR1 fusions in breast cancer, may be the result of tandem duplication with upstream partners, and may be subclonal and acquired later in cancer progression.

1 year ago

ER (Estrogen receptor) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR3 (Fibroblast growth factor receptor 3) • CCDC170(Coiled-Coil Domain Containing 170) • RSPO3 (R-Spondin 3)

RET fusion • MET exon 14 mutation • ROS1 fusion • FGFR3 fusion • ER-CCDC170 fusion

Oncomine Precision Assay

1year

Clinical Utility of Novel Fusion Detection by Amplicon-Based Next-Generation Sequencing versus Whole-Transcriptome Sequencing in Practice (AMP 2024)

In this real-world clinical dataset, WTS performed significantly worse than amplicon-based sequencing for detection of clinically meaningful fusions, predominantly due to a high QNS rate. It did not significantly increase the detection rate of novel fusions. Although amplicon-based methods may have limitations due to the inability to detect novel fusions, this can be overcome with design for additional targets, and is balanced by a superior ability to test a wide range of clinical samples without failure.

1 year ago

Clinical • Next-generation sequencing

ALK (Anaplastic lymphoma kinase) • FGFR3 (Fibroblast growth factor receptor 3) • NRG1 (Neuregulin 1) • KIF5B (Kinesin Family Member 5B) • TACC3 (Transforming acidic coiled-coil containing protein 3) • CCDC6 (Coiled-Coil Domain Containing 6) • VTCN1 (V-Set Domain Containing T Cell Activation Inhibitor 1) • YAP1 (Yes associated protein 1) • STAT6 (Signal transducer and activator of transcription 6) • MAML2 (Mastermind Like Transcriptional Coactivator 2) • NAB2 (NGFI-A Binding Protein 2)

FGFR3 fusion

Oncomine™ Comprehensive Assay v3M

1year

Fusion transcriptome landscape in Glioblastoma (SNO 2024)

Comprehensive molecular profiling reveals that approximately 10% of IDH WT GBMs carry oncogenic fusions that may be therapeutic targets. Broad spectrum of observed fusions underscores the need for novel clinical trial designs to allow efficient enrollment for prospective testing of potential targeted agents.

1 year ago

EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • MET (MET proto-oncogene, receptor tyrosine kinase) • ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • 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) • FGFR3 (Fibroblast growth factor receptor 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • TACC3 (Transforming acidic coiled-coil containing protein 3) • CDK4 (Cyclin-dependent kinase 4) • CAPZA2 (Capping Actin Protein Of Muscle Z-Line Subunit Alpha 2) • SEC61G (SEC61 Translocon Subunit Gamma) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)

TP53 mutation • EGFR mutation • NTRK1 fusion • NTRK2 fusion • MET amplification • EGFR amplification • ALK fusion • ROS1 fusion • MET mutation • EGFRvIII mutation • FGFR3 fusion • IDH wild-type • EGFR fusion

MI Tumor Seek™

1year

TAS-120-203: Futibatinib and Pembrolizumab Combination in the Treatment of Advanced or Metastatic Urothelial Carcinoma (clinicaltrials.gov)

P2, N=43, Active, not recruiting, Taiho Oncology, Inc. | Trial primary completion date: Aug 2025 --> Mar 2024

1 year ago

Trial primary completion date • Metastases

FGFR3 mutation • FGFR1 mutation • FGFR1 fusion • FGFR3 fusion

Keytruda (pembrolizumab) • Lytgobi (futibatinib)

1year

Case report: a case of lung squamous cell carcinoma with a novel FGFR3-IER5L fusion mutation responding to anlotinib. (PubMed, Front Oncol)

Anlotinib is a small molecular multi-target tyrosine kinase inhibitor, which can inhibit the activity of kinases including vascular endothelial growth factor receptor 2/3 (VEGFR2/3), fibroblast growth factor receptor 1-4 (FGFR1-4), platelet-derived growth factor receptor α/β (PDGFRα/β), and c-Kit. The patient achieved partial response and the progression-free survival was 3.8 months.

1 year ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • KDR (Kinase insert domain receptor)

FGFR3 fusion

Focus V (anlotinib)

1year

Rare Oncogenic Fusions in Pediatric Central Nervous System Tumors: A Case Series and Literature Review. (PubMed, Cancers (Basel))

Even within tumors harboring the same oncogenic fusions, a wide range of morphological, molecular and epigenetic entities can be observed. These findings highlight the need for caution when applying the fifth CNS WHO classification, as the vast majority of these fusions are not yet incorporated in the diagnosis, including grade evaluation and DNA methylation classification.

1 year ago

Review • Journal

ALK (Anaplastic lymphoma kinase) • FGFR3 (Fibroblast growth factor receptor 3) • BCOR (BCL6 Corepressor) • NTRK (Neurotrophic receptor tyrosine kinase)

ALK fusion • ROS1 fusion • FGFR3 fusion

1year

FGFR3::TACC3 fusions in head and neck carcinomas: a study of nine cases highlighting phenotypic heterogeneity, frequent HPV association, and a morphologically distinct subset in favor of a putative entity. (PubMed, Virchows Arch)

A driver role of the FGFR3::TACC3 fusion in the first category (as a potential distinct entity) remains to be further studied. In the light of available FGFR-targeting therapies, delineation of these tumors and enhanced recognition is recommended.

1 year ago

Journal

FGFR3 (Fibroblast growth factor receptor 3) • TACC3 (Transforming acidic coiled-coil containing protein 3) • AFF2 (AF4/FMR2 family member 2) • GATA3 (GATA binding protein 3)

FGFR3 fusion • AR expression

1year

Genetic Profiling of Non-Small Cell Lung Cancer in Moroccan Patients by Targeted Next-Generation Sequencing. (PubMed, Technol Cancer Res Treat)

Our results regarding the proportion of samples with actionable mutations demonstrate the value of NGS testing for NSCLC patients in a real-world clinical diagnostic setting.

1 year ago

Journal • Retrospective data • PD(L)-1 Biomarker • IO biomarker • Next-generation sequencing

EGFR (Epidermal growth factor receptor) • 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) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • RET (Ret Proto-Oncogene) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR3 (Fibroblast growth factor receptor 3) • EML4 (EMAP Like 4) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • CHEK2 (Checkpoint kinase 2)

TP53 mutation • KRAS mutation • EGFR mutation • BRAF mutation • PTEN mutation • RET mutation • ROS1 fusion • RET rearrangement • ERBB3 mutation • FGFR3 fusion • EGFR mutation + KRAS mutation

Oncomine Precision Assay

1year

All-in-one bimodal DNA and RNA next-generation sequencing panel for integrative diagnosis of glioma. (PubMed, Pathol Res Pract)

Overall, our results suggest that the all-in-one bimodal DNA/RNA panel is reliable for detecting diagnostic gene alterations in accordance with the latest WHO classification. The integrative pathological and molecular strategy could be valuable in confirmation of diagnosis and selection of treatment options for brain tumors.

1 year ago

Journal • Next-generation sequencing

EGFR (Epidermal growth factor receptor) • FGFR3 (Fibroblast growth factor receptor 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • TERT (Telomerase Reverse Transcriptase)

EGFR mutation • NTRK2 fusion • FGFR3 fusion • TERT mutation • IDH mutation + NTRK fusion

1year

Pluripotent stem cell-derived CTLs targeting FGFR3-TACC3 fusion gene in osteosarcoma. (PubMed, Int Immunopharmacol)

Findings were validated in in vivo experiments. This study suggests that iPSC-derived CTLs targeting FGFR3-TACC3 hold promise for personalized immunotherapy against osteosarcoma.

1 year ago

Journal • IO biomarker

FGFR3 (Fibroblast growth factor receptor 3) • TACC3 (Transforming acidic coiled-coil containing protein 3)

FGFR3-TACC3 fusion • FGFR3 fusion • FGFR3 expression

over1year

Enhancing Clinical Utility: Oncomine Dx Target Test Augments Biomarker Detection in Advanced Non-Small-Cell Lung Cancer (IASLC-WCLC 2024)

Conclusions : The integration of ODxTT alongside single gene tests provides significant additional information without compromising the performance of single gene tests. With ODxTT's high success rate, this integration expands the scope of comprehensive therapeutic strategies for advanced lung cancer.

over 1 year ago

Clinical • Metastases

EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • 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) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR3 (Fibroblast growth factor receptor 3) • MAP2K1 (Mitogen-activated protein kinase kinase 1)

BRAF V600E • EGFR mutation • KRAS G12C • BRAF V600 • EGFR T790M • RET fusion • EGFR exon 20 insertion • MET exon 14 mutation • ALK mutation • KRAS G12 • EGFR exon 20 mutation • ROS1 mutation • FGFR3 fusion

Oncomine™ Dx Target Test

over1year

Ultra-sensitive ctDNA NGS assay enhances genomic profiling for advanced HR-positive, HER2-negative breast cancer on endocrine therapy (ESMO 2024)

Plasma samples were collected after aromatase inhibitor treatment and before starting Fulvestrant... The ultra-sensitive ctDNA NGS assay outperformed standard liquid biopsy assays in detecting low-frequency mutations and those from samples with low tumor fractions in HR-positive, HER2-negative breast cancer. Its superior detection may help identify patients suitable for targeted therapies like PIK3CA and ESR1 inhibitors, improving early detection of treatment resistance and disease monitoring for more effective personalized treatment strategies.

over 1 year ago

BRCA Biomarker • Next-generation sequencing • 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) • BRCA2 (Breast cancer 2, early onset) • FGFR3 (Fibroblast growth factor receptor 3) • BAIAP2L1 (BAI1 associated protein 2 like 1) • BAIAP2 (BAR/IMD Domain Containing Adaptor Protein 2)

TP53 mutation • HR positive • HER-2 negative • PIK3CA mutation • FGFR3 fusion • FGFR3-BAIAP2L1 fusion • PTEN mutation + HR positive

PredicineCARE™

fulvestrant