Publications by authors named "V Mautner"
Background: To intraindividually compare the diagnostic performance of positron emission computed tomography (F-18-FDG-PET/CT) and diffusion-weighted magnetic resonance imaging (DW-MRI) in a non-inferiority design for the discrimination of peripheral nerve sheath tumours as benign (BPNST), atypical (ANF), or malignant (MPNST) in patients with neurofibromatosis type 1 (NF1).
Results: In this prospective single-centre study, thirty-four NF1 patients (18 male; 30 ± 11 years) underwent F-18-FDG-PET/CT and multi-b-value DW-MRI (11 b-values 0 - 800 s/mm²) at 3T. Sixty-six lesions corresponding to 39 BPNST, 11 ANF, and 16 MPNST were evaluated.
Article Synopsis
- * A retrospective review of WB-MRI scans from 17 NF1 children without initial tumors found that two developed new PN during a median follow-up of 9 years; one patient formed larger tumors while the other had smaller tumors along major nerves.
- * Most children (15 out of 17) did not develop any tumors over a 6-year follow-up period, suggesting that while PN
Background: Neurofibromatosis type 1 (NF1) is associated with the development of benign (BPNST) and malignant (MPNST) peripheral nerve sheath tumors. Recently described atypical neurofibromas (ANF) are considered pre-malignant precursor lesions to MPNSTs. Previous studies indicate that diffusion-weighted magnetic resonance imaging (DW-MRI) can reliably discriminate MPNSTs from BPNSTs.
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- Ependymomas are diverse tumors with specific types based on where they occur and their molecular characteristics, with spinal ependymomas (SP-EPN) being the most common type found in the spinal cord of both children and adults.
- Research revealed limited molecular data on SP-EPN, with known genetic changes including losses on chromosome 22q and mutations in NF2, but this study aimed to fill the gaps by analyzing transcriptomic, epigenetic, genetic, and clinical data from a large cohort.
- The study identified two subtypes of SP-EPN: subtype A, associated with known NF2 mutations and more severe disease, and subtype B, characterized by different genetic alterations and more stable NF2 expression, helping to
Background And Purpose: Thalamic hypometabolism is a consistent finding in brain PET with F-18 fluorodeoxyglucose (FDG) in patients with neurofibromatosis type 1 (NF1). However, the pathophysiology of this metabolic alteration is unknown. We hypothesized that it might be secondary to disturbance of peripheral input to the thalamus by NF1-characteristic peripheral nerve sheath tumors (PNSTs).
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