Erdafitinib

In the largest study to date of bone and soft tissue tumors, OGM detected 100% of the variants found by multiple standard techniques, including karyotyping, fluorescent in-situ hybridization (FISH) & gene fusion assays OGM was also more sensitive, including detection of diagnostic or pathogenic variants missed by karyotype in 74% (14/19) of cases that failed or were negative by karyotyping When OGM results and next-generation sequencing (NGS) results were combined, diagnostic and pathogenic structural variants (SVs), copy number variants (CNVs), and/or single nucleotide variants (SNVs) were found in ~98% of cases, a substantially greater rate than when karyotyping, FISH and NGS are used Dec. 23, 2024 -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced a publication in Modern Pathology by a group of researchers at the Johns Hopkins University School of Medicine, showing that optical genome mapping (OGM) can outperform traditional techniques in analysis of bone and soft tissue tumors. Several prior publications have shown the utility of OGM compared to traditional cytogenetics in studies of hematologic malignancies, however, data on the application of OGM in solid tumors has been relatively sparse. This study provides compelling support for extending the utility of OGM in cancer beyond hematologic malignancies to solid tumors. OGM detected all variants revealed by conventional cytogenetics: OGM showed 100% concordance, identifying all pathogenic variants detected by standard of care cytogenetic methods. The specificity of OGM was assessed to be 100%, i.e. OGM correctly identified the same pathogenic SVs and CNVs detected by standard of care/routine cytogenetics (karyotyping and FISH). OGM detected pathogenic variants missed by karyotyping: In 74% of cases with normal or failed karyotype, OGM detected diagnostic or pathogenic SVs that were missed by karyotyping. Further, in 6 cases that failed to yield any karyotyping results due to culture failure, OGM detected pathogenic SVs in all of them. Variants found by OGM but missed by standard of care included the EWSR1::ETV1 fusion, which is a key molecular hallmark of clear cell sarcoma and helps to differentiate it from other soft tissue sarcomas and melanomas. OGM resolved complex cancer genomes: Study authors found that OGM data could re-characterized and better defined complex structural rearrangements including chromoanagenesis in 27% of cases and complex 3-6-way translocations in 15% of cases when compared to traditional cytogenetic methods. OGM combined with NGS found pathogenic variants in 98% of cases, a substantially greater rate than when karyotyping, FISH and NGS are used: The integrated approach of the combination of OGM and NGS resulted in the detection of pathogenic SVs and sequence variants in ~98% of cases. OGM was 100% concordant with NGS for aneuploidy detection. OGM findings have the potential to qualify subjects for targeted therapies that otherwise would not have been possible: The authors state that several of the OGM findings could result in the potential for these cases to qualify for either targeted treatments or clinical trials. For example, cases with potential to be treated by CDK4/6 inhibitors (palbociclib, ribociclib, abemaciclib), TRK inhibitors (larotrectinib, entrectinib), pan-FGFR inhibitors (erdafitinib or futibatinib) were highlighted. Erik Holmlin, president and chief executive officer of Bionano commented, “Approximately 50% of bone and soft tissue tumor samples fail to reveal actionable information for proper classification of disease, prognosis and therapeutic management because they either fail to culture or because traditional techniques in cytogenetics lack adequate sensitivity and specificity to reliably detect relevant variants. We have seen increasing evidence for OGM as a valuable alternative to cytogenetic methods in blood cancers, and we are thrilled to see researchers at Johns Hopkins publishing this compelling case for extending OGM’s utility to bone and soft tissue tumors.” The full research publication is available at: https://doi.org/10.1016/j.modpat.2024.100684 Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company’s mission is to transform the way the world sees the genome through optical genome mapping (OGM) solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. The Company also offers an industry-leading, platform-agnostic genome analysis software solution, and nucleic acid extraction and purification solutions using proprietary isotachophoresis (ITP) technology. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also offers OGM-based diagnostic testing services. The content above comes from the network. if any infringement, please contact us to modify.

Johnson & Johnson (J&J) has announced that its pan-FGFR tyrosine kinase inhibitor Balversa (erdafitinib) has been granted marketing authorisation by the Medicines and Healthcare products Regulatory Agency (MHRA) to treat a subset of bladder cancer patients. The drug has been approved as an oral monotherapy for adults with unresectable or metastatic cases of urothelial carcinoma (UC), the most common form of the disease, who are harbouring susceptible FGFR3 genetic alterations. Eligible patients will also have previously received at least one line of therapy containing a PD-1 or PD-L1 inhibitor in the unresectable or metastatic treatment setting. Approximately 10,500 people are diagnosed with bladder cancer every year in the UK, with UC accounting for more than 90% of cases. Up to 20% of patients with metastatic UC have an FGFR3 alteration, which can drive the growth of cancer cells. The MHRA’s decision, which comes less than three months after the European Commission approved Balversa for the same indication, was based on positive results from cohort one of the late-stage THOR trial. J&J’s drug demonstrated a median overall survival of 12.1 months compared to 7.8 months for chemotherapy. It also showed an improvement in progression-free survival compared to chemotherapy, at 5.6 months versus 2.7 months, and had a confirmed objective response rate of 35.3% compared to 8.5% for chemotherapy. John Fleming, country medical director, J&J Innovative Medicine UK, said: “We are delighted that the MHRA has recognised the value that [Balversa] could bring to eligible patients with metastatic UC… We look forward to progressing with health technology assessment submissions for [Balversa] in the coming months, with the view to enabling eligible patients to access [Balversa] through the NHS as soon as possible.” The approval follows the National Institute for Health and Care Excellence’s recent recommendation of J&J’s Tecvayli (teclistamab) to treat relapsed and refractory multiple myeloma (RRMM) in adults. The final draft guidance, released last month, applies to RRMM patients in England and Wales who have received at least three lines of therapy, including an immunomodulatory drug, a proteasome inhibitor and an anti-CD38 antibody, and have progressed on their last treatment.