Neurofibromatosis and Schwannoma Cases

Altered Aperiodic EEG Activity in Adolescents with Neurofibromatosis Type 1

This study finds that adolescents with Neurofibromatosis Type 1 have higher aperiodic EEG activity, consistent with increased inhibitory tone, but no cognitive performance differences.

Quantitative imaging of schwannoma captures heterogeneity and accelerates preclinical testing, exposing distinct therapeutic signatures

This study uses quantitative imaging to analyze schwannoma heterogeneity and test drugs in a mouse model, revealing distinct therapeutic response signatures.

Pervasive Somatic Mutations in NF1 Drive Cell Type and Spatially Specific Clonal Selection in Neurofibromatosis

The paper identifies pervasive somatic NF1 mutations in oligodendrocyte precursors in NF-1 patients, showing clonal selection and spatial bias, and links CDKN2A loss to tumor progression.

Merlin restoration prevents schwannoma progression in a genetically engineered mouse model of NF2-SWN

This study shows that restoring merlin in Nf2-deficient schwannoma cells reduces tumor growth in a genetically engineered mouse model of NF2-SWN.

A novel combinatorial treatment for Neurofibromatosis type 1 tumours revealed through cross-species genetic analysis

This paper identifies AZT as a potential therapeutic for NF1 tumors through cross-species genetic analysis and validates its efficacy in human and mouse models.

Cell line resources for the study of neurofibromin: functions, phenotypes, and drug discovery/development

The paper presents and characterizes human cell lines with NF1 gene variants for studying neurofibromin function, phenotypes, and drug development.

Comprehensive mapping of Neurofibromin (NF1) expression in developing mouse brain

This study maps NF1 expression in developing mouse brain, revealing graded expression patterns across regions and cell lineages.

A Multicenter Confirmatory Randomized-Controlled Study of rhNRGβ1 Protein Replacement Therapy in a Murine Model of NF2-related Schwannomatosis

Across three German sites and 207 analyzed mice, systemic rhNRGβ1 at 10 µg/kg did not reduce schwannoma nerve thickness or shift Schwann cell differentiation markers.

NF2 lacking exon 11 isoform induced by antisense gene therapy is able to recover partially merlin deficiency on NF2-related Schwannomatosis iPSC-derived spheroid model

This study shows that antisense gene therapy using PMOs can induce exon 11 skipping in NF2-deficient Schwann cells, partially restoring merlin function and key pathways in a spheroid model of NF2-SWN.

Loss of neurofibromin alters adult metabolism via effects during a developmental critical period

This study shows that loss of Nf1 in neurons during a critical developmental period causes adult metabolic changes in Drosophila, without affecting mitochondrial function.

Specific HLA Class I and II alleles are associated with a higher risk for tumor formation in Neurofibromatosis type 1

The paper identifies specific HLA class I and II alleles associated with increased risk of certain tumor types in NF1 patients using RNA-seq and DNA sequencing data.

Identification of Malignant Peripheral Nerve Sheath Tumor subtypes with distinct genomic identities

This paper identifies three distinct molecular subtypes of MPNSTs with unique genomic features and progression paths, offering a framework for improved diagnosis and treatment.

PRMT5 is Frequently Upregulated and a Potential Therapeutic Target in MTAP-deficient Malignant Peripheral Nerve Sheath Tumors

This paper identifies PRMT5 as a therapeutic target in MTAP-deficient MPNSTs, showing that its inhibition suppresses cell growth and enhances DNA damage when combined with chemotherapy.

ZNF423 depletion induces the integrated stress response and represents a potential vulnerability in NF1-associated MPNST

This study shows ZNF423 depletion triggers the integrated stress response and sensitizes NF1-associated MPNST to chemotherapy, identifying it as a potential therapeutic target.

Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling

This study investigates how neurofibromin mutations affect metabolic and behavioral traits in Drosophila by analyzing the roles of MEK and Akt/mTOR signaling pathways.

Redundant roles of YES and SRC tyrosine kinases in driving malignant peripheral nerve sheath tumors

This study identifies YES and SRC tyrosine kinases as redundant drivers of MPNST and shows their inhibition suppresses tumor growth and reactivates immune responses.

Proof-of-principle of NF1 Gene Therapy in plexiform neurofibroma mice models

This study demonstrates that restoring NF1 gene expression in established neurofibromas can lead to tumor regression in mouse models.

Multi-omics integration of malignant peripheral nerve sheath tumors identifies potential targets based on chromosome 8q status

This study integrates multi-omics data from MPNSTs to identify drug targets based on chromosome 8q status, suggesting PLK1 and EGFR inhibitors could be effective in different subtypes.

Immortalization and Characterization of Schwann Cell Lines Derived from NF1 Associated Cutaneous Neurofibromas

The paper develops and characterizes semi-immortalized Schwann cell lines from NF1-associated cutaneous neurofibromas to aid in studying and developing therapies for NF1.

The Cell Surface Proteome of Malignant Peripheral Nerve Sheath Tumors Reveals Therapeutic Targets

This study identifies cell surface proteome changes in MPNSTs due to PRC2 loss, revealing PTK7 as a promising therapeutic target using antibody-drug conjugates.

Variable Schwann cell merlin inactivation is targetable with TEAD1 inhibition in schwannomas.

The paper identifies variable merlin inactivation in schwannomas and shows TEAD1 inhibition can reverse hippo signaling and suppress tumor growth.

PRC2 Restricts Malignant Peripheral Nerve Sheath Tumorigenesis in a Genetically Engineered Mouse Model of MPNST

This study shows that PRC2 inactivation promotes MPNST by reprogramming Schwann-lineage cells and presents a mouse model that recapitulates human PRC2-loss MPNST.

Context-Dependent Effects of Midkine on Plexiform Neurofibroma Growth and Drug Response in 3D Coculture Models

This study shows midkine promotes pNF1 tumor growth in monoculture but not in 3D coculture with neurons, and does not affect selumetinib response.

Single-Cell Comparison of Schwann and Fibroblast Cells Reveals Distinct Transcriptional Programs in NF1-Associated Neurofibromas

The paper compares Schwann and fibroblast cells in NF1-associated neurofibromas to identify distinct transcriptional programs between cNF and pNF tumors.

Interferon signaling underlies radiotherapy responses in malignant peripheral nerve sheath tumors (MPNSTs)

This study identifies interferon signaling as a key mediator of radiotherapy response in MPNSTs, linking it to T-cell recruitment and clinical outcomes.

High-content microscopy and machine learning characterize a cell morphology signature of NF1 genotype in Schwann cells

The paper uses high-content microscopy and machine learning to identify a cell morphology signature of NF1 genotype in Schwann cells, but model performance declines when applied to new cell lines.

iPSC-derived NF1-CDKN2A-PRC2 deficient neural crest mimics MPNST glial-to-neuro-mesenchymal transition and uncover new therapeutic opportunities

This paper uses iPSC-derived neural crest models to mimic MPNST progression and identifies PARPi as a potential therapy for PRC2-deficient tumors.

Prioritizing Combinational Drug Screening: A Ranking System for In Vitro Drug Combinations in Neurofibromatosis Type 1

This paper introduces CMRS, a ranking system to evaluate in vitro drug combinations for NF1-related tumors, showing some combinations outperform single agents.

Integrated genomic analysis of NF1-associated peripheral nerve sheath tumors: an updated biorepository dataset

The paper provides an integrated genomic analysis of NF1-associated peripheral nerve sheath tumors using RNAseq and WES data from 73 and 114 samples, respectively, accessible via the NF Data Portal.

Exploring the mechanisms governing the initiation of plexiform neurofibromas using Prss56Cre,Nf1-KO mouse model at a single-cell resolution

This study uses a Nf1-KO mouse model to investigate the initiation of plexiform neurofibromas, finding that skin trauma accelerates tumor development and that Nf1 heterozygosity contributes to mutant Schwann cell expansion.