Open research questions in Neurofibromatosis and Schwannoma Cases
26 unresolved questions extracted from the limitations and future-work sections of 378 Neurofibromatosis and Schwannoma Cases papers in our library. Each links back to the study that raised it.
What the literature leaves open
Although a causal link between NCC and glioma has not been established, the co-occurrence in the same patient warrants documentation; the satellite lesion observed radiologically in this case may reflect multifocal GBM rather than residual parasitic disease, and clinicoradiological correlation is essential in such settings.
Characterization of High-Grade Glial and Related Neuroepithelial Tumors Using the AOSNP-ADAPTR Framework: A Case Series With Review of Literature · 2026 · DOIThis report contributes to the limited literature on radical surgical management of NF1-associated MPNSTs and emphasizes the critical balance between oncological control and functional preservation in these challenging cases.
Giant cervicothoracic malignant peripheral nerve sheath tumor in neurofibromatosis type I: a case report of integrated management with multimodal guidance · 2026 · DOIIn summary, while CALMs alone are insufficient to establish NF1 in early infancy, our findings demonstrate a clear and progressive increase in lesion burden during the first two years of life in genetically confirmed cases.
Early quantitative progression of café-au-lait macules and diagnostic threshold fulfilment by 24 months in neurofibromatosis type 1 · 2026 · DOIIn this setting, tracer avidity and bone erosion alone are insufficient to infer malignancy; instead, integrated interpretation of MRI/CT morphology, metabolic imaging for extent mapping and staging, and clinicoradiologic context is essential.
Case Report: Giant L1 dumbbell-shaped spinal schwannoma with osteolytic destruction and intense [18F]FDG uptake on PET/CT mimicking a malignant tumor · 2026 · DOIWe present a case of MTT arising from the sacral plexus with radiologic-pathologic correlation, multimodal treatment, and early recurrence, aiming to contribute to the limited literature and emphasize the importance of integrated diagnostic and therapeutic strategies.
We report the incidental intraoperative discovery of mesenteric neurofibromatosis during surgery for acute appendicitis in an NF-1 patient, a presentation scarcely documented previously.
Mesenteric neurofibromatosis complicated by acute appendicitis: case report and review of the literature · 2026 · DOIAlthough the underlying pathophysiologies of myelin dysregulation in CMT and NF1 are different, their possible link to ganglioneuroma remains to be further investigated.
Bilateral dumbbell-shaped ganglioneuroma of the C2 roots in a patient with Charcot-Marie-Tooth disease: illustrative case · 2026 · DOITraditional AIS-based DFV selection does not account for the distinctive pathological features of NF1 scoliosis, including vertebral dysplasia, reduced bone mineral den- sity, and paraspinal soft-tissue abnormalities [1, 6].
Distal fusion vertebra selection in neurofibromatosis type 1 scoliosis: integrating CT/MRI-detected atrophic changes reduces long-term mechanical complications · 2026 · DOINeed for prospective multicenter studies to better establish risk-benefit profiles of radiotherapy versus chemotherapy and watchful waiting in NF1 pediatric glioma management.
Radiotherapy for low grade gliomas in children with neurofibromatosis type 1: when there is no other choice. Case Report · 2026 · DOIIsolated colorectal neurofibromas unassociated with syndromic disease are exceptionally rare, and their biological behaviour remains incompletely characterised.
Isolated rectal neurofibroma in the absence of neurofibromatosis: report and review of molecular implications · 2026 · DOIConclusion: Although intraosseous schwannomas of the jaw bones and plexiform schwannomas of soft tissues of head and neck are documented in the recent literature; to the best of our knowledge, an intraosseous variant of plexiform schwannoma has not been reported.
Most-cited papers in Neurofibromatosis and Schwannoma Cases
- NF1 Gene and Neurofibromatosis 1 · American Journal of Epidemiology · 2000 · 314 citations
- Optic Pathway Gliomas in Children With and Without Neurofibromatosis 1 · Journal of Child Neurology · 2003 · 157 citations
- ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma · Journal of Clinical Oncology · 2024 · 90 citations
- The Neurofibromatoses · Deutsches Ärzteblatt international · 2020 · 44 citations
- Prevalence of oral neurofibroma in Central Indian population · Journal of Oral and Maxillofacial Pathology · 2021 · 12 citations
- Giant mediastinal schwannoma located in the lower right side of the chest · Nigerian Journal of Clinical Practice · 2016 · 10 citations
- Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families · Balkan Medical Journal · 2021 · 7 citations
- Unusual intramandibular plexiform shwannoma · Oral Surgery · 2011 · 5 citations
- Molecular targets for NF1-associated malignant peripheral nerve sheath tumor · Reports of Practical Oncology & Radiotherapy · 2020 · 4 citations
- Calretinin immunohistochemical staining in hirschprungs disease: an institutional experience · Northern Clinics of Istanbul · 2021 · 4 citations
Most recent work
- Surgical complications of kyphoscoliosis secondary to neurofibromatosis type 1: a systematic review · Asian Spine Journal · 2026
- Excessive intraoperative hemorrhage during orthognathic surgery in a patient with neurofibromatosis type 1: a case report and literature review · Oral and Maxillofacial Surgery · 2026
- Radiotherapy for low grade gliomas in children with neurofibromatosis type 1: when there is no other choice. Case Report · Frontiers in Oncology · 2026
- Solitary neurofibroma of the hard palate: A rare case report · Journal of Oral Medicine, Oral Surgery, Oral Pathology and Oral Radiology · 2026
- Case Report: Giant L1 dumbbell-shaped spinal schwannoma with osteolytic destruction and intense [18F]FDG uptake on PET/CT mimicking a malignant tumor · Frontiers in Medicine · 2026
- Artificial intelligence in neurofibromatosis type I: diagnostic and therapeutic opportunities · Journal of Applied Genetics · 2026
- Atypical Neurofibromatous Neoplasms of Uncertain Biological Potential in Children with Neurofibromatosis Type 1: Report of Two Patients and Review · International Journal of Surgical Pathology · 2026
- Isolated rectal neurofibroma in the absence of neurofibromatosis: report and review of molecular implications · European Journal of Case Reports in Internal Medicine · 2026
- The differences in CT findings between schwannoma in mediastinum and retroperitoneum · Medicine · 2026
- Loss of EPB41L3: a common molecular link in the tumorigenesis of neurofibromatosis types 1 and 2 · Frontiers in Oncology · 2026
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