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GENE:

NF2 (Neurofibromin 2)

i
Other names: NF2, Neurofibromin 2, Schwannomin, Merlin, SCH 2, Neurofibromin 2 (Bilateral Acoustic Neuroma), Moesin-Ezrin-Radixin-Like Protein, Moesin-Ezrin-Radixin Like, Schwannomerlin, BANF, ACN, Moesin-Ezrin-Radizin-Like Protein, Neurofibromin 2 (Merlin), Neurofibromin-2
3d
Gadolinium-Enhanced Portable Ultra-Low Field MRI for Evaluating Various Intracranial Pathologies. (PubMed, AJNR Am J Neuroradiol)
Our findings demonstrate that pULF-MRI can depict diagnostically meaningful gadolinium enhancement across multiple pathologies, establishing the feasibility and potential clinical utility of contrast-based neuroimaging at pULF. Further selection and validation of appropriate use cases can improve neurological health outcomes in settings where access to standard MRI is limited or contraindicated.
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NF2 (Neurofibromin 2)
3d
Clinicopathological significance of loss of Y chromosome in male meningiomas. (PubMed, J Pathol)
© 2026 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland
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NF2 (Neurofibromin 2) • EZR (Ezrin) • KDM5D (Lysine Demethylase 5D) • RDX (Radixin)
6d
End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes. (PubMed, J Med Genet)
Therefore, we conclude that NGS on multiple affected tissues is an effective strategy to detect low-level mosaicism. Identification of previously unrecognised low-grade mosaic cases not only allows for more precise diagnosis and management advice for the index patient, but also accurate genetic counselling for family members.
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NF2 (Neurofibromin 2)
11d
A rare constellation of bilateral progressive visual and auditory loss in neurofibromatosis type 2: a multimodal diagnostic approach. (PubMed, Ann Med Surg (Lond))
This case underscores the importance of considering NF2 in young patients with simultaneous multisystem neurologic deficits, even in the absence of cutaneous stigmata. A high index of clinical suspicion, supported by multimodal imaging, is essential for early diagnosis and appropriate multidisciplinary management in such complex presentations.
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NF2 (Neurofibromin 2)
11d
Matrix Metalloproteinase‑9 (MMP-9) Activatable Gold Nanoparticles for In Situ Zymography and Diagnostics of Neurofibromatosis Type 2 (NF2) Tumors. (PubMed, ACS Appl Nano Mater)
Longitudinal measurement of nanoparticle activation further resolves changes in MMP-9 activity within the tumor in response to therapeutic intervention, illustrating the platform's capacity in monitoring treatment response. Together, these findings establish MMP-9 activatable AuNP as a sensitive, spatially resolved diagnostic tool for NF2-SWN that complements imaging by directly quantifying protease activity in tumors that are inaccessible to biopsy.
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NF2 (Neurofibromin 2) • MMP9 (Matrix metallopeptidase 9)
12d
Targeted gene sequencing and bioinformatics analysis of a patient with gallbladder adenosquamous carcinoma: a case report. (PubMed, Front Oncol)
Comparative analyses with other gallbladder carcinoma subtypes revealed GBASC to have distinct clinical phenotypes, molecular alterations, functional characteristics, and enriched signaling pathways. Moreover, there is an urgent need for standardized treatment protocols.
Journal • Tumor mutational burden • IO biomarker
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EGFR (Epidermal growth factor receptor) • TMB (Tumor Mutational Burden) • KMT2A (Lysine Methyltransferase 2A) • KMT2D (Lysine Methyltransferase 2D) • NF2 (Neurofibromin 2) • CDK6 (Cyclin-dependent kinase 6) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • LATS2 (Large Tumor Suppressor Kinase 2) • RECQL4( RecQ Like Helicase 4) • EXT1 (Exostosin Glycosyltransferase 1)
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EGFR mutation • ATM mutation
19d
Lateral Orbitotomy for Trigeminal Schwannomas: Surgical Technique, Outcomes, and Limitations. (PubMed, Oper Neurosurg)
Minimally invasive LOA stands as a plausible and aesthetically favorable surgical corridor for addressing TSs of the middle cranial fossa, even with extension into the posterior fossa. However, additional study is required as the approach may be limited for tumors with significant posterior or infratemporal fossa involvement.
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NF2 (Neurofibromin 2)
20d
Persistent Hypercalcemia: Diagnostic Complexity With Multiglandular Hyperparathyroidism, Renal Cell Carcinoma, and Hereditary Tumor Features. (PubMed, Cureus)
He was treated with intravenous fluids, zoledronic acid, and calcitonin with symptomatic improvement and was referred to a tertiary center for surgical evaluation...Instead, a broad differential should be maintained, including concurrent malignancy or inherited syndromes. Early recognition of overlapping etiologies is essential to prevent delayed diagnosis or missed malignancy in patients with persistent hypercalcemia.
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NF2 (Neurofibromin 2)
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zoledronic acid
20d
Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series. (PubMed, Neurol Genet)
Because diagnostic criteria for NF1 and SWN include genetic testing, resolving VUSs in those who do not meet criteria is crucial for clinical care. In this article, we report 3 cases in which RNA testing and tissue analysis clarified pathogenicity of VUSs, thereby affecting clinical care, and in one case providing a definitive diagnosis.
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NF1 (Neurofibromin 1) • NF2 (Neurofibromin 2)