^
    3d
    Defining Prognostic Markers and Clinical Outcomes in Epithelioid Malignant Peripheral Nerve Sheath Tumor. (PubMed, Mod Pathol)
    In conclusion, EMPNST tumor size and mitotic activity are key prognostic factors, supporting a simple risk stratification model. SMARCB1 inactivation is the most frequent genomic event, followed by gains at 2q35 potentially targeting XRCC5, highlighting molecular underpinnings for this distinct sarcoma subtype.
    Clinical data • Journal
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    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    4d
    Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1. (PubMed, Neurol Genet)
    In this cohort of 79 adult patients with NF1, 18F-FDG PET/CT proved as a valuable complementary imaging modality to conventional imaging by enabling the detection of incidental malignant or potentially malignant tumors. Our results highlight 18F-FDG PET/CT's beneficial impact on disease management by suggesting that the incorporation of 18F-FDG PET/CT into screening protocols could improve early detection of NF1-related cancers in asymptomatic adults, potentially offering early treatment options to improve clinical outcomes.
    Journal
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    NF1 (Neurofibromin 1)
    4d
    Malignant peripheral nerve sheath tumors arising in SMARCB1-associated schwannomatosis: illustrative cases. (PubMed, J Neurosurg Case Lessons)
    These cases emphasize clinical vigilance for malignant transformation in schwannomatosis, particularly with rapidly enlarging lesions or new neurological symptoms. MRI and FDG-PET can aid in identifying concerning features. Despite margin-negative resection, recurrence and metastasis may occur, reflecting the tumor's aggressive biology. Genetic counseling may be considered in SMARCB1-associated cases. While malignant transformation is much more common in NF1 lesions, rare cases do arise in schwannomatosis, requiring close surveillance and multidisciplinary management. https://thejns.org/doi/10.3171/CASE25610.
    Journal
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    NF1 (Neurofibromin 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    13d
    Driving proteomic imbalance in malignancy provokes proteomic catastrophe and confers tumor suppression. (PubMed, bioRxiv)
    Thus, HSF1 safeguards the cancer proteome to enable the oncogenic potential of mTORC1. This proof-of-principle study highlights provoking proteomic catastrophe as a next-generation therapeutic concept for combating malignancy.
    Journal
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    NF1 (Neurofibromin 1) • TSC2 (TSC complex subunit 2) • HSF1 (Heat Shock Transcription Factor 1) • HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1)
    15d
    Prolonged Mitogen-Activated Protein Kinase Kinase (MEK) Inhibition Induces Increase in Proteolysis and Compensatory Phosphorylation of MEK and Protein Kinase B (AKT) in Plexiform Neurofibroma Cells. (PubMed, Cells)
    FDA-approved mitogen-activated protein kinase kinase (MEK) inhibitors, selumetinib and mirdametinib, have shown ~30% tumor shrinkage in 70% and 42% pNF1 patients, respectively. This response was also observed in MPNST cell lines treated with MEK inhibitors. These findings suggest that adaptive activation of upstream and parallel survival pathways may counteract the intended effects of MEK inhibition and support the rationale for combination strategies to improve therapeutic outcomes in NF1-associated tumors.
    Journal
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    NF1 (Neurofibromin 1)
    |
    Koselugo (selumetinib) • Gomekli (mirdametinib)
    15d
    Trametinib and Fimepinostat Induce Malignant Peripheral Nerve Sheath Tumor Cell Death In Vitro. (PubMed, Cancers (Basel))
    These studies demonstrate in vitro efficacy for two candidate MPNST therapeutics which could reduce tumor burden and metastasis in NF1 patients.
    Preclinical • Journal
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    NF1 (Neurofibromin 1)
    |
    Mekinist (trametinib) • Koselugo (selumetinib) • Gomekli (mirdametinib) • fimepinostat (CUDC-907)
    17d
    Challenging Limb Salvage in a Crural Malignant Peripheral Nerve Sheath Tumor with Pre-existing Long-Stem Implants: A Case Report. (PubMed, J Orthop Case Rep)
    The unusual longitudinal distribution of the tumor, combined with the constraints imposed by pre-existing long-stem implants, made limb salvage infeasible. Individualized surgical planning, incorporating both oncologic and reconstructive considerations, is essential when managing complex MPNSTs in reconstructively compromised limbs.
    Journal
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    SOX10 (SRY-Box 10)
    19d
    Schwannoma: a spectrum from benign to malignant. (PubMed, Rom J Morphol Embryol)
    This study highlights the importance of integrating histopathology and immunohistochemistry for accurate diagnosis and differentiation of peripheral nerve sheath tumors. The recognition of rare variants and analysis of tumor subtypes contribute to a better understanding of these entities, which is crucial for appropriate clinical management.
    Journal
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    SOX10 (SRY-Box 10)
    22d
    IFN signaling is associated with radiotherapy response in malignant peripheral nerve sheath tumors. (PubMed, J Clin Invest)
    Analysis of human MPNST resection specimens demonstrated that increased microenvironmental and CD8+ T cell infiltration were associated with improved local control following RT. These results provide a preclinical rationale for combining immunomodulatory agents targeting IFN signaling to improve radiation responses in MPNSTs and potentially other soft tissue sarcomas.
    Journal
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    CD8 (cluster of differentiation 8)
    23d
    Immunohistochemistry of melanocytic tumours (PubMed, Pathologie (Heidelb))
    Cases of malignant peripheral nerve sheath tumours are, in contrast to desmoplastic melanoma S‑100 protein negative or express this marker only focally, and show a decreased nuclear expression of H3K27. Desmoplastic melanoma shows a focal nuclear expression of p53 in contrast to neurofibroma.
    Review • Journal
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    ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • BAP1 (BRCA1 Associated Protein 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • WT1 (WT1 Transcription Factor) • SOX10 (SRY-Box 10) • CD68 (CD68 Molecule) • PRAME (Preferentially Expressed Antigen In Melanoma) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • MITF (Melanocyte Inducing Transcription Factor) • NES (Nestin) • PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha)
    24d
    Giant malignant peripheral nerve sheath tumor: Illustrative case and surgical technique. (PubMed, Surg Neurol Int)
    The benefits - including the emotional ones - can be so significant that, despite their malignant lineage, resection and regrowth control remain worthwhile for as long as possible. Four- or six-hand surgery for these tumors can reduce bleeding, operative time, and complications.
    Journal
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    NF1 (Neurofibromin 1)
    24d
    Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation. (PubMed, Clin Case Rep)
    Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment. Early recognition and vigilant monitoring in NF1 patients are crucial for prompt intervention and improved outcomes.
    Journal
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    NF1 (Neurofibromin 1)