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    BIOMARKER:

    NF2 mutation

    i
    Other names: Nf2, Merlin
    Entrez ID:
    4771
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    7d
    Acquired NF2 mutation confers resistance to TRK inhibition in an ex vivo LMNA::NTRK1-rearranged soft-tissue sarcoma cell model. (PubMed, J Pathol)
    Drug synergy was seen using trametinib and rapamycin in combination with entrectinib.
    Preclinical • Journal
    |
    NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • NF2 (Neurofibromin 2) • LMNA (Lamin A/C) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    NF2 mutation • NTRK fusion
    |
    Mekinist (trametinib) • Rozlytrek (entrectinib) • sirolimus
    7d
    Susceptibility-Weighted MRI for Predicting NF-2 Mutations and S100 Protein Expression in Meningiomas. (PubMed, Diagnostics (Basel))
    Deep learning features demonstrated a strong predictive capability for S100 protein expression (AUC = 0.85 ± 0.06) and had reasonable success in identifying NF-2 copy number loss (AUC = 0.74 ± 0.05). In conclusion, SWI showed promise in identifying NF-2 copy number loss and S100 protein expression by revealing neovascularization and microcalcification characteristics in meningiomas.
    Journal
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation • NF2 expression
    11d
    EAY131-U: Testing VS-6063 (Defactinib) as a Potential Targeted Treatment in Cancers With NF2 Genetic Changes (MATCH-Subprotocol U) (clinicaltrials.gov)
    P2, N=35, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: May 2024 --> May 2025 | Trial primary completion date: May 2024 --> May 2025
    Trial completion date • Trial primary completion date
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    |
    defactinib (VS-6063)
    22d
    Association of frequent NF2 mutations with spinal location predominance and worse outcomes in psammomatous meningiomas. (PubMed, J Neurosurg)
    Female sex and spinal location predominance were statistically significant in PMs. NF2 mutation was an independent predictor for worse PFS of PMs. Of note, NF2 mutation was detected in all SPMs but in only 38.46% of CPMs, revealing a significant difference.
    Journal
    |
    PGR (Progesterone receptor) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • NF2 (Neurofibromin 2)
    |
    NF2 mutation • PGR expression
    27d
    Neurofibromatosis type 2 in the otorhinolaryngological practice (PubMed, Vestn Otorinolaringol)
    The importance of the presented observation is that the doctor should assume neurofibromatosis type 2 in a young patient with bilateral vestibular schwannomas. It is necessary to undertake a further examination of this patient, including: skin examination for the identification of characteristic neurofibromas and cafe-au-lait macules, consultation with an ophthalmologist, neurologist, MRI of the brain and spinal cord with contrast, genetic analysis - for timely initiation of therapy that prevents hearing loss and vestibular disorders.
    Journal
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    1m
    EAY131-U: Testing VS-6063 (Defactinib) as a Potential Targeted Treatment in Cancers With NF2 Genetic Changes (MATCH-Subprotocol U) (clinicaltrials.gov)
    P2, N=35, Active, not recruiting, National Cancer Institute (NCI)
    Trial completion date
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    |
    defactinib (VS-6063)
    2ms
    NF2 mutations are enriched in FH deficient renal cell cancer (AACR 2024)
    NF2 mutations have been identified in a variety of morphologic types of Renal cell cancer. However, we were surprised by the number of cases with NF2 mutation in tumors that also harbor the FH (HLRCC) mutation. NF2 tumors have been reported to have an aggressive behavior, and FH cancers are also known to have poor survival.
    NF2 (Neurofibromin 2) • B2M (Beta-2-microglobulin) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • ARID1B (AT-Rich Interaction Domain 1B) • EP300 (E1A binding protein p300) • BCORL1 (BCL6 Corepressor Like 1)
    |
    VHL mutation • NF2 mutation
    |
    TruSight Oncology 500 Assay
    2ms
    Molecular profiling using next generation sequencing with high purity enrichment of circulating tumor cells (AACR 2024)
    Molecular analysis of CTCs is a challenge since CTCs are very rare in the blood and there are technical limitations in isolating CTCs with sufficient purity. In this study, we developed the process for NGS analysis on very low number of CTCs with high purity, isolated using CytoGen's Smart Biopsy™ system. Overall, these process could provide information for diagnosis and appropriate treatment of metastatic breast cancer along with the results of our ongoing clinical trials.
    Circulating tumor cells • Next-generation sequencing • Tumor cell
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NF2 (Neurofibromin 2) • NOTCH3 (Notch Receptor 3) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C)
    |
    TP53 mutation • KRAS mutation • BRAF mutation • NF2 mutation • NOTCH3 mutation
    |
    Oncomine™ Pan-Cancer Cell-Free Assay • Oncomine™ Comprehensive Assay Plus
    2ms
    Unilateral Multifocal Inner Ear and Internal Auditory Canal or Cerebellopontine Angle Cochleovestibular Schwannomas-Genetic Analysis and Management by Surgical Resection and Cochlear Implantation. (PubMed, Otol Neurotol)
    The occurrence of multifocal unilateral cochleovestibular schwannomas without pathogenic variants in NF2 in non-affected blood leucocytes can be associated with mosaic NF2-related schwannomatosis (case 1), or with likely sporadic mutations (case 2) and may be overlooked due to their extreme rarity. Although challenging, successful hearing rehabilitation could be achieved through surgical resection of the tumors and cochlear implantation.
    Journal
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    2ms
    Pevonedistat Alone and in Combination With Chemotherapy in Patients With Mesothelioma (clinicaltrials.gov)
    P1/2; Completed --> Terminated; Sponsor terminated study agreement
    Combination therapy • Trial termination
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    |
    MSK-IMPACT
    |
    cisplatin • pemetrexed • pevonedistat (MLN4924)
    2ms
    Characterizing sarcoma molecular landscape by nanopore adaptive sampling sequencing (Sarcoma-RC 2024)
    Sarcoma panel Nanopore adaptive sampling can diagnose rare sarcoma types, such as FUS translocated Ewing's sarcoma, and aid in characterizing the molecular landscape. Furthermore, Nanopore analysis may facilitate blood-based tumor markers. Additional testing of a diverse sarcoma cohort is needed to evaluate the clinical utility of this approach.
    NF2 (Neurofibromin 2) • FUS (FUS RNA Binding Protein)
    |
    NF2 mutation
    |
    FoundationOne® CDx
    2ms
    Study to Evaluate VT3989 in Patients With Metastatic Solid Tumors Enriched for Tumors With NF2 Gene Mutations (clinicaltrials.gov)
    P1, N=188, Recruiting, Vivace Therapeutics, Inc | Trial completion date: Feb 2024 --> Dec 2024 | Trial primary completion date: Feb 2024 --> Nov 2024
    Trial completion date • Trial primary completion date • Metastases
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    |
    VT3989
    2ms
    Tissue genomic profiling of pleural mesothelioma patients treated with immunotherapy: Unraveling genetic alterations and complexity (ELCC 2024)
    Conclusions Our study did not identify predictive or prognostic factors for IO outcomes in unresectable PM, emphasizing the complexity and heterogeneity of PM. Further research with larger cohorts is crucial to unveil biomarkers in this setting.
    Clinical • Tumor mutational burden • IO biomarker
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BAP1 (BRCA1 Associated Protein 1) • NF2 (Neurofibromin 2) • FANCA (FA Complementation Group A)
    |
    PIK3CA mutation • BAP1 mutation • NF2 mutation • FANCA mutation
    |
    FoundationOne® CDx • OmniSeq INSIGHT
    3ms
    Eosinophilic Solid and Cystic Renal Cell Carcinoma: Morphologic and Immunohistochemical Study of 18 Cases and Review of the Literature. (PubMed, Arch Pathol Lab Med)
    Group 1 (7 of 18; 38.5%) was characterized by positive phospho-4EBP1 and phospho-S6, which can imply hyperactive mechanistic target of rapamycin complex 1 (mTORC1) signaling...One case had metastatic spread and exhibited an aggressive clinical course, and we detected cyclin-dependent kinase inhibitor 2A (CDKN2A) mutation in this case; other patients were alive and without disease progression. Our research proposes that eosinophilic solid and cystic renal cell carcinoma exhibits prototypical pathologic features with CK20 positivity and has aggressive potential.
    Review • Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF2 (Neurofibromin 2) • EIF4EBP1 (Eukaryotic translation initiation factor 4E binding protein 1)
    |
    CDKN2A mutation • NF2 mutation • NF2 negative
    |
    sirolimus
    3ms
    Genetic characterization and mutational profiling of foramen magnum meningiomas: a multi-institutional study. (PubMed, J Neurosurg)
    These findings provide important insights into the molecular genetics and clinicopathological characteristics of FM meningiomas. The identification of specific genetic alterations associated with tumor location, volume, calcification, histology, and sex at diagnosis may have implications for personalized treatment strategies in the future.
    Clinical • Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • NF2 (Neurofibromin 2) • KLF4 (Kruppel-like factor 4)
    |
    PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • AKT1 E17K • NF2 mutation • AKT1 mutation • PIK3CA E545 • KLF4 K409Q
    3ms
    Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation. (PubMed, Acta Neuropathol)
    These tumors showed regular NF2 expression but more extensive global copy number alterations. Based on integrated molecular profiling of a large multi-center cohort, we identified two distinct SP-EPN subtypes with important implications for genetic counseling, patient surveillance, and drug development priorities.
    Journal
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation • NF2 expression
    3ms
    Functional interactions between neurofibromatosis tumor suppressors underlie Schwann cell tumor de-differentiation and treatment resistance. (PubMed, Nat Commun)
    Functional genomic screening in NF1-mutant tumor cells reveals NF2 loss and PAK activation underlie selumetinib resistance, and we find that concurrent MEK and PAK inhibition is effective in vivo. These data support a de-differentiation paradigm underlying malignant transformation and treatment resistance of Schwann cell tumors and elucidate a functional link between NF1 and NF2.
    Journal
    |
    NF1 (Neurofibromin 1) • NF2 (Neurofibromin 2)
    |
    NF2 mutation
    |
    Koselugo (selumetinib)
    3ms
    SEL-TH-1601: Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors (clinicaltrials.gov)
    P2, N=34, Active, not recruiting, Children's Hospital Medical Center, Cincinnati | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    |
    Koselugo (selumetinib)
    4ms
    POPLAR-NF2: Efficacy and Safety of REC-2282 in Patients With Progressive Neurofibromatosis Type 2 (NF2) Mutated Meningiomas (clinicaltrials.gov)
    P2/3, N=89, Recruiting, Recursion Pharmaceuticals Inc.
    Trial completion date • Trial primary completion date
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    |
    REC-2282
    4ms
    Long-term outcomes of stereotactic radiosurgery for intracranial schwannoma in neurofibromatosis type 2: a genetic analysis perspective. (PubMed, J Neurooncol)
    SRS achieved excellent PFR for NF2-associated intracranial schwannomas in the mild (group 2A) and moderate (group 2B) groups. SRS necessitates careful consideration for the severe group (group 3), especially in cases with NF2 truncating mutation exons 2-13.
    Journal • Surgery
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    5ms
    Molecular and immune landscape by cyclin dependent kinase (CDK) 4/6 expression and TP53 mutational status in mismatch repair deficient/microsatellite instability-high (dMMR/MSI-H) colorectal cancer (CRC). (ASCO-GI 2024)
    Our comprehensive analysis is the first to show distinct mutational profiles according to TP53 mut status, and differential expression of immune-related genes and TME cell infiltration independent of TP53 mut in CDK4/6 high vs low dMMR/MSI-H CRC. In our series, CDK6 expression correlated with ICI treatment benefit in TP53 mut tumors, warranting further studies to explore the potential of targeting the CDK4/6 axis to enhance ICI efficacy in CRC.
    Microsatellite instability • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker • Mismatch repair
    |
    PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • MSI (Microsatellite instability) • DNMT3A (DNA methyltransferase 1) • ARID1A (AT-rich interaction domain 1A) • PD-1 (Programmed cell death 1) • KMT2A (Lysine Methyltransferase 2A) • IFNG (Interferon, gamma) • LAG3 (Lymphocyte Activating 3) • CDH1 (Cadherin 1) • HAVCR2 (Hepatitis A Virus Cellular Receptor 2) • FANCL (FA Complementation Group L) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • CD80 (CD80 Molecule) • CD86 (CD86 Molecule) • HNF1A (HNF1 Homeobox A)
    |
    TP53 mutation • KRAS mutation • MSI-H/dMMR • BRAF mutation • ARID1A mutation • DNMT3A mutation • APC mutation • NF2 mutation • TP53 expression • MLL mutation • CDK4 mutation • CDK6 expression
    |
    MI Tumor Seek™
    5ms
    Genomic Landscape of Patients with Germline RUNX1 Variants and Familial Platelet Disorder with Myeloid Malignancy. (PubMed, Blood Adv)
    Monitoring changes in somatic mutations and clinical manifestations prospectively may reveal mechanisms for malignant progression and inform clinical management. ClinicalTrials.gov identifier: NCT03854318.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • LRP1B (LDL Receptor Related Protein 1B) • KMT2C (Lysine Methyltransferase 2C) • BCOR (BCL6 Corepressor)
    |
    KRAS mutation • RUNX1 mutation • NF2 mutation • BCOR mutation
    5ms
    Genomic Landscape of Pleural Mesothelioma and Therapeutic Aftermaths. (PubMed, Curr Oncol Rep)
    Similarly, the association between mutational profile and the immune microenvironment or immunotherapy response is not well characterised. Further research into the link between tumour mutational profile and response to therapy is critical for identifying targetable vulnerabilities and stratifying patients for therapy.
    Review • Journal • IO biomarker
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • BAP1 (BRCA1 Associated Protein 1) • NF2 (Neurofibromin 2)
    |
    BAP1 mutation • NF2 mutation
    5ms
    Evaluation of an institutional series of low-grade oncocytic tumor (LOT) of the kidney and review of the mutational landscape of LOT. (PubMed, Virchows Arch)
    Our study shows that LOT is increasingly diagnosed in routine practice when applying the appropriate diagnostic criteria. We also confirm that the mTOR pathway is strongly implicated in the pathogenesis of this tumor mainly through MTOR, TCS1, and TSC2 mutations, but other genes could also be involved in the pathway activation, especially in LOTs without "canonical" mutations.
    Review • Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • NOTCH1 (Notch 1) • TERT (Telomerase Reverse Transcriptase) • TSC2 (TSC complex subunit 2) • TSC1 (TSC complex subunit 1) • NOTCH4 (Notch 4) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8)
    |
    PIK3CA mutation • NF2 mutation • TSC1 mutation • TSC2 mutation • MTOR mutation • PAX8 positive
    5ms
    Unveiling a Biomarker Signature of Meningioma: The Need for a Panel of Genomic, Epigenetic, Proteomic, and RNA Biomarkers to Advance Diagnosis and Prognosis. (PubMed, Cancers (Basel))
    Discovery of novel biomarkers will allow, in combination with WHO grading, more precise meningioma grading, including meningioma identification, subtype determination, and prediction of metastasis, recurrence, and response to therapy. Moreover, these biomarkers may be exploited in the development of personalized targeted therapies that can distinguish between the 15 diverse meningioma subtypes.
    Review • Journal
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    5ms
    Genetic Characterization and Mutational Profiling of Foramen Magnum Meningiomas: A Multi-Institutional Study (SNO 2023)
    Our findings provide important insights into the molecular genetics and clinicopathological characteristics of FM meningiomas. The identification of specific genetic alterations associated with tumor location, calcification, histology, and sex at diagnosis may have implications for personalized treatment strategies in the future.
    Clinical
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • NF2 (Neurofibromin 2) • KLF4 (Kruppel-like factor 4)
    |
    PIK3CA mutation • AKT1 E17K • NF2 mutation • AKT1 mutation
    5ms
    Rapid clinical and radiological response to bevacizumab in a patient with schwannomatosis (SNO 2023)
    The plan is to continue bevacizumab therapy long term. This case demonstrated efficacy of bevacizumab as an alternative treatment option to improve quality of life and avoid surgeries in patients with this rare debilitating condition.
    Clinical
    |
    NF2 (Neurofibromin 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    |
    NF2 mutation
    |
    Avastin (bevacizumab)
    5ms
    MULTI-SITE TARGET CAPTURE SEQUENCING CONFIRMS INTRA-TUMOUR HETEROGENEITY OF PLEURAL MESOTHELIOMA (BTS WM 2023)
    Conclusions Spatial profiling of pleural mesothelioma revealed marked inter and intra- patient heterogeneity, with only one patient showing an apparent founder mutation in NF2. Although alterations affecting Hippo, Hedgehog or SWI/SNF pathways may define subsets of responders to therapies, it is possible that underlying heterogeneity will result in poor response.
    ARID1A (AT-rich interaction domain 1A) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • NF2 (Neurofibromin 2) • TSC1 (TSC complex subunit 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • ARID1B (AT-Rich Interaction Domain 1B)
    |
    ARID1A mutation • SF3B1 mutation • MET mutation • NF2 mutation • TSC1 mutation
    6ms
    What is new in intraneural perineurioma? (PubMed, Acta Neurochir (Wien))
    Current advances have allowed for us to provide improved patient counseling with informed understanding for various clinical scenarios. With the workup and diagnosis now clearly defined, the next frontier is for improving the lives of patients with IN perineuriomas through the interaction between restoration of functional deficits and advances in our understanding of the genetics of this entity.
    Review • Journal
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    6ms
    Doxycycline in Cutaneous Schwannoma (NF2) (clinicaltrials.gov)
    P1/2, N=19, Recruiting, Massachusetts Eye and Ear Infirmary | Trial primary completion date: Sep 2023 --> Sep 2024
    Trial primary completion date
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    7ms
    Meningioma (PubMed, No Shinkei Geka)
    The amalgamation of molecular insights with clinical and histological parameters, alongside patient prognosis, holds significant utility in the management of patients with meningiomas. It is anticipated to pave the way for treatments founded on molecular-clinical associations.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NF2 (Neurofibromin 2) • SMO (Smoothened Frizzled Class Receptor) • KLF4 (Kruppel-like factor 4)
    |
    CDKN2A deletion • NF2 mutation • AKT1 mutation • TERT mutation • SMO mutation • TERT promoter mutation
    7ms
    A novel irreversible TEAD inhibitor, SWTX-143, blocks Hippo pathway transcriptional output and causes tumor regression in preclinical mesothelioma models. (PubMed, Mol Cancer Ther)
    Finally, SWTX-143 also selectively impaired the growth of NF2-mutant kidney cancer cell lines, suggesting that the sensitivity of mesothelioma models to these YAP/TAZ-TEAD inhibitors can be extended to other tumor types with aberrations in Hippo signaling. In brief, we describe a novel and specific YAP/TAZ-TEAD inhibitor that has potential to treat multiple Hippo-mutant solid tumor types.
    Preclinical • Journal
    |
    NF2 (Neurofibromin 2) • LATS2 (Large Tumor Suppressor Kinase 2) • TAFAZZIN (Tafazzin) • TEAD1 (TEA Domain Transcription Factor 1)
    |
    NF2 mutation
    |
    Undisclosed YAP/TAZ-TEAD inhibitor
    7ms
    Combined inhibition of Bcl-2 family members and YAP induces synthetic lethality in metastatic gastric cancer with RASA1 and NF2 deficiency. (PubMed, Mol Cancer)
    Our research unveils the intricate interplay between YAP and Bcl-2 family members, which can lead to synthetic lethality, offering a potential strategy to overcome drug resistance. Importantly, our findings support a personalized medicine approach where combined therapy targeting YAP and Bcl-2, tailored to NF2 and RASA1 status, could effectively manage metastatic GC.
    Journal • IO biomarker • Synthetic lethality • Metastases
    |
    BCL2 (B-cell CLL/lymphoma 2) • BCL2L1 (BCL2-like 1) • NF2 (Neurofibromin 2) • RASA1 (RAS P21 Protein Activator 1)
    |
    NF2 mutation • NF2 deletion • NF2 expression
    7ms
    Targeting YB-1 via entinostat enhances cisplatin sensitivity of pleural mesothelioma in vitro and in vivo. (PubMed, Cancer Lett)
    Importantly, in a mouse model, the combination of cisplatin and entinostat also resulted in stronger growth inhibition than each treatment alone. Our study highlights YB-1 as an attractive target in PM and demonstrates that targeting YB-1 via entinostat is a promising approach to enhance cisplatin and radiation sensitivity.
    Preclinical • Journal
    |
    TP53 (Tumor protein P53) • BAP1 (BRCA1 Associated Protein 1) • NF2 (Neurofibromin 2) • YBX1 (Y-Box Binding Protein 1)
    |
    TP53 mutation • NF2 mutation
    |
    cisplatin • Jingzhuda (entinostat)
    8ms
    Mutational spectrum for guiding the decision of adjuvant treatment in patients with resected biliary tract carcinoma. (PubMed, Cancer Med)
    Genomic testing might be useful in guiding the decisions regarding adjuvant treatment in BTC.
    Retrospective data • Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR2 (Fibroblast growth factor receptor 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • PBRM1 (Polybromo 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • TGFBR1 (Transforming Growth Factor Beta Receptor 1) • ACVR1B (Activin A Receptor Type 1B)
    |
    PIK3CA mutation • ARID1A mutation • FGFR2 mutation • NF1 mutation • CDKN2A mutation • PBRM1 mutation • NF2 mutation • ERBB3 mutation
    8ms
    SEL-TH-1601: Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors (clinicaltrials.gov)
    P2, N=34, Recruiting, Children's Hospital Medical Center, Cincinnati | Trial completion date: Jun 2024 --> Jun 2025 | Trial primary completion date: Jun 2023 --> Jun 2024
    Trial completion date • Trial primary completion date
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    |
    Koselugo (selumetinib)
    8ms
    Current progress in genomics and targeted therapies for neurofibromatosis type 2. (PubMed, Fukushima J Med Sci)
    Bevacizumab, an anti-VEGF monoclonal antibody, is widely used in many clinical trials aiming for hearing improvement or tumor volume control...In this randomized control trial, 12 other Japanese institutions joined the principal investigators in the clinical trial originating at Fukushima Medical University. In this review, we will be discussing the latest research developments regarding NF2 pathophysiology, including molecular biology, diagnosis, and novel therapeutics.
    Journal
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    |
    Avastin (bevacizumab)