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    BIOMARKER:

    NF2 mutation

    i
    Other names: Nf2, Merlin
    Entrez ID:
    4771
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    11ms
    The Investigation of Transcription Factor SOX11 and PITX1 in Predicting Meningioma Clinical Outcomes (ChiCTR2400094780)
    P=N/A, N=500, Southwest Hospital; Southwest Hospital
    New trial
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • TERT (Telomerase Reverse Transcriptase) • BAP1 (BRCA1 Associated Protein 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NF2 (Neurofibromin 2) • KLF4 (Kruppel-like factor 4)
    |
    CDKN2A deletion • NF2 mutation • TERT mutation • TERT promoter mutation
    11ms
    Role of NF2 Mutation in the Development of Eleven Different Cancers. (PubMed, Cancers (Basel))
    However, future studies remain to be done to further elucidate the role of the Hippo signaling pathway in the carcinogenesis of human NF2-mutant tumors. The findings of this review provide insights into the role of NF2 mutations in cancers, Hippo signaling in NF2-mutant cancers, and current gaps in our knowledge regarding the two.
    Review • Journal
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    NF2 (Neurofibromin 2)
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    NF2 mutation
    11ms
    Development and validation of a molecular classifier of meningiomas. (PubMed, Neuro Oncol)
    Our DNA methylation-based classifier, which is publicly available for immediate clinical use, recapitulates the biology and outcomes of the original molecular groups as assessed using multiple metrics/platforms that were not used in its training.
    Journal
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    11ms
    Therapeutic effect of novel drug candidate, PRG-N-01, on NF2 syndrome-related tumor. (PubMed, Neuro Oncol)
    Together, our study provides the rationale and critical data for a prospective clinical trial of PRG-N-01 in NF2-SWN patients indicating PRG-N-01 as a promising candidate for the treatment.
    Journal
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    NF2 (Neurofibromin 2) • TGFB1 (Transforming Growth Factor Beta 1) • POSTN (Periostin)
    |
    NF2 mutation
    12ms
    Phase II Study of Defactinib (VS6063) in Patients With Tumors With NF2 Loss: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol U. (PubMed, JCO Precis Oncol)
    This protocol did not meet its prespecified primary end point. Defactinib monotherapy had limited clinical activity in this cohort of previously treated patients with solid tumors exhibiting NF2 loss.
    P2 data • Journal
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    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    |
    Fakzynja (defactinib)
    1year
    Primary and salvage radiosurgery for neurofibromatosis type 2-associated meningiomas. (PubMed, J Neurosurg)
    In this case series, the LTC rates of both primary and salvage SRS exceeded 90%. However, nearly half of the patients required additional SRS for new untreated meningiomas. No significant differences in long-term LTC were found when comparing upfront versus salvage SRS for patients with NF2 meningiomas. These results establish SRS as a valuable and safe option for managing NF2-associated meningiomas.
    Journal • Surgery
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    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    1year
    Presenting characteristics and clinical outcomes of idiopathic versus neurofibromatosis type 2-associated spinal meningiomas: a retrospective institutional experience. (PubMed, J Neurosurg Spine)
    In this study of 166 surgically treated patients with SM, patients with NF2 presented earlier, experienced earlier progression, and experienced progression more frequently compared with those without NF2. Radiographic characteristics of tumors were relatively consistent between groups. While idiopathic SMs remain a relatively benign and highly manageable disease, considering tumor molecular characteristics and broader clinical history is paramount in providing efficacious and individualized patient care.
    Clinical data • Retrospective data • Journal
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    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    1year
    Molecular characterization of adult non-glioblastoma central nervous system (CNS) tumors to identify potential targettable alterations (AIOM 2024)
    4 pts received TT at recurrence, within clinical trials: one with grade 3 meningioma and ALK rearrangement treated with alectinib, one with PTCH1 mutant medulloblastoma treated with vismodegib, and two with high TMB treated with nivolumab/ipilumumab. The incidence of targettable molecular alterations in adult CNS tumor patients was lower than in GBM. Nevertheless, in a few selected cases TT have the potential to increase treatment options at recurrence and improve outcomes.
    Clinical • Tumor mutational burden • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • POLE (DNA Polymerase Epsilon) • MDM2 (E3 ubiquitin protein ligase) • PTCH1 (Patched 1) • NF2 (Neurofibromin 2) • BRCA (Breast cancer early onset) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    BRAF V600E • BRCA2 mutation • BRCA1 mutation • TMB-H • PIK3CA mutation • MET amplification • ALK rearrangement • FGFR1 amplification • POLE mutation • NF1 mutation • MDM2 amplification • RET mutation • PTCH1 mutation • NF2 mutation • ROS1 mutation • BRCA mutation • ALK rearrangement + PIK3CA mutation • PTCH1 rearrangement • NTRK fusion
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    FoundationOne® CDx
    |
    Opdivo (nivolumab) • Yervoy (ipilimumab) • Alecensa (alectinib) • Erivedge (vismodegib)
    1year
    Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation. (PubMed, Ophthalmic Genet)
    By the age of three, her vision worsened, and optical coherence tomography showed vitreomacular traction and intraretinal fluid surrounding the lesion. This case underscores the need to consider NF2- SWN in peripapillary hamartoma diagnoses and highlights the importance of genetic testing for early detection and management.
    Journal
    |
    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    1year
    Generation of a zebrafish neurofibromatosis model via inducible knockout of nf2. (PubMed, Dis Model Mech)
    Collectively, these findings highlight the generation of a novel zebrafish model that mimics the complexities of the human NF-2 disorder. Consequently, this model holds significant potential for facilitating therapeutic screening and elucidating key driver genes implicated in NF-2 onset.
    Journal
    |
    NF1 (Neurofibromin 1) • NF2 (Neurofibromin 2)
    |
    NF2 mutation
    1year
    Interactions among Merlin, Arkadia, and SKOR2 mediate NF2-associated Schwann cell proliferation in human. (PubMed, bioRxiv)
    Proteomic analyses identified novel interaction partners for Merlin - Arkadia and SKOR2. Our results established a new model in which merlin interacts with Arkadia and SKOR2 and this interaction is required for the proper activation of the SMAD-dependent pathway in TGFβ signaling.
    Journal
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    NF2 (Neurofibromin 2)
    |
    NF2 mutation
    1year
    Aggressive high-grade NF2 mutant meningiomas downregulate oncogenic YAP signaling via the upregulation of VGLL4 and FAT3/4. (PubMed, Neurooncol Adv)
    In vitro, overexpression of VGLL4 resulted in the downregulation of YAP activity in benign NF2 mutant meningioma cells, confirming the direct link between VGLL4 expression and decreased levels of YAP activity observed in aggressive NF2 mutant meningiomas. Our results shed new insight into the biology of benign and aggressive NF2 mutant meningiomas and may have important implications for the efficacy of therapies targeting oncogenic YAP1 activity in NF2 mutant meningiomas.
    Journal
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    NF2 (Neurofibromin 2) • YAP1 (Yes associated protein 1) • FAT3 (FAT Atypical Cadherin 3) • VGLL4 (Vestigial Like Family Member 4)
    |
    NF2 mutation