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OBJECTIVE: The purpose of this narrative review is to summarize pain symptomatology and mechanisms in neurofibromatosis type 1 (NF1), discuss the pain related quality of life impacts of NF1, and discuss the literature exploring interventions to improve quality of life.
RESULTS: Chronic pain in NF1 is described as headache and non-headache pain. The literature describes mechanisms contributing to neuronal hyperexcitability in the setting of reduced neurofibromin as key contributors to pain in NF1. Pain in NF1 negatively impacts quality of life with pain interference, depression, anxiety, and cognitive functioning acting as important mediators. Mitogen-activated protein kinase (MEK) inhibitors are pharmacologic agents that interfere with pain mechanisms. Mind-body interventions improve coping skills to improve quality of life. Chronic pain in NF1 is heterogeneous with negative impacts on quality of life. New developments in pharmacological and non-pharmacological interventions offer promising approaches to pain management and quality of life improvement. Additional research is necessary to validate the use of MEK inhibitors and mind-body interventions in the treatment of NF1.

BACKGROUND: Neurofibroma is a common benign tumor of neuronal origin that can occur as a solitary tumor or as a component of the generalized syndrome of neurofibromatosis. Neurofibromas are primarily located in the subcutaneous soft tissues and commonly involve extra-oral sites. Solitary intraosseous neurofibromas of the oral cavity are infrequent, with occurrences in the maxilla being exceedingly rare.
METHODS: A 22-year-old male patient presented with an asymptomatic mass in the maxilla. Cone-beam computed tomography revealed a round, well-outlined, radiolucent lesion with expansive growth. The neoplasm with the complete capsule was completely removed and confirmed as a neurofibroma based on histopathological and immunohistochemical findings. The reported cases of solitary intraosseous neurofibromas located in the maxilla published in the English literature were compiled to assist in the diagnosis of solitary intraosseous neurofibromas of the maxilla. Nine months after the surgery, there were no signs of tumor recurrence or malignant transformation.
CONCLUSIONS: This report emphasizes that rare locations of neurofibromas, such as solitary intraosseous neurofibromas in the maxilla, typically demonstrate nonspecific clinical and radiological features. Clinicians should consider solitary intraosseous neurofibromas as possible differential diagnoses and recognize the histopathological and immunohistochemical features to confirm the correct diagnosis. A longer follow-up period is required because of the potential for local recurrence and malignant transformation of these tumors.

Neurofibromatosis Type 1 (NF1) is caused by loss of function variants in the NF1 gene. Most patients with NF1 develop skin lesions called cutaneous neurofibromas (cNFs). Currently the only approved therapeutic for NF1 is selumetinib, a mitogen -activated protein kinase (MEK) inhibitor. The purpose of this study was to analyze the transcriptome of cNF tumors before and on selumetinib treatment to understand both tumor composition and response. We obtained biopsy sets of tumors both pre- and on- selumetinib treatment from the same individuals and were able to collect sets from four separate individuals. We sequenced mRNA from 5844 nuclei and identified 30,442 genes in the untreated group and sequenced 5701 nuclei and identified 30,127 genes in the selumetinib treated group. We identified and quantified distinct populations of cells (Schwann cells, fibroblasts, pericytes, myeloid cells, melanocytes, keratinocytes, and two populations of endothelial cells). While we anticipated that cell proportions might change with treatment, we did not identify any one cell population that changed significantly, likely due to an inherent level of variability between tumors. We also evaluated differential gene expression based on drug treatment in each cell type. Ingenuity pathway analysis (IPA) was also used to identify pathways that differ on treatment. As anticipated, we identified a significant decrease in ERK/MAPK signaling in cells including Schwann cells but most specifically in myeloid cells. Interestingly, there is a significant decrease in opioid signaling in myeloid and endothelial cells; this downward trend is also observed in Schwann cells and fibroblasts. Cell communication was assessed by RNA velocity, Scriabin, and CellChat analyses which indicated that Schwann cells and fibroblasts have dramatically altered cell states defined by specific gene expression signatures following treatment (RNA velocity). There are dramatic changes in receptor-ligand pairs following treatment (Scriabin), and robust intercellular signaling between virtually all cell types associated with extracellular matrix (ECM) pathways (Collagen, Laminin, Fibronectin, and Nectin) is downregulated after treatment. These response specific gene signatures and interaction pathways could provide clues for understanding treatment outcomes or inform future therapies.

Neurofibromas are benign peripheral nerve sheath tumors that typically develop within cutaneous nerve branches but can involve major nerves as well. They can be sporadic or associated with neurofibromatosis type 1. In this report, we describe the surgical treatment of a pediatric patient with neurofibromatosis type 1 presenting with a neurofibroma of a bifid median nerve. Involvement of the median nerve was not evident on preoperative examination or imaging, therefore altering the risk-benefit ratio of the procedure. After bifid nerve involvement was identified intraoperatively, the patient\'s parents were counseled on the risks and benefits of surgical excision before resuming the case. Ultimately, the neurofibroma was resected, and the patient experienced no neurological deficits after surgery.

This article presents a case report of a 45-year-old male with neurofibromatosis type I (NF1) who developed a high-grade malignant peripheral nerve sheath tumor (MPNST) originating from a neurofibroma within the common peroneal nerve over popliteal fossa. MPNSTs are aggressive tumors associated with NF1, causing significant mortality. The patient underwent tumor resection surgery and received postoperative radiation therapy. Follow-up examinations showed no impairment of motor function and no tumor recurrence after regular MRI evaluation for four years. This article explores the challenges of distinguishing benign neurofibromas from malignant MPNST via MRI image and biopsy, and achieving a balance between tumor excision and preserving nerve functionality during surgical treatment. However, caution is warranted due to the risk of recurrence.

BACKGROUND: Benign nerve sheath tumors presenting as solitary retroperitoneal masses (RBNSTs) pose a complex diagnostic challenge for multidisciplinary teams regarding differential diagnosis, staging, and treatment planning. This article reviews the role played by different imaging techniques in assessing RBNSTs and elucidates their typical pathological features with a particular emphasis on the correlation between imaging and histological findings. Furthermore, some examples of retroperitoneal tumors that merit consideration in the process of differential diagnosis based on cross-sectional investigations (CSIs) are reported. The correlation between tissue architecture and appearance on imaging can help increase the accuracy of differential diagnosis with other retroperitoneal neoplasms at CSIs.
UNASSIGNED: This educational review critically examines the correlation between imaging and histological features in solitary retroperitoneal benign nerve sheath tumors, offering valuable insights for improving the accuracy of differential diagnosis in clinical radiology.
CONCLUSIONS: RBNSTs are challenging to diagnose because they lack specific radiological features. Differential diagnosis of RBNSTs from other retroperitoneal neoplasms on imaging is complex. Surgical removal of RBNSTs is recommended for an accurate diagnosis.

BACKGROUND: Almost all patients with Neurofibromatosis type 1 (NF1) develop cutaneous neurofibroma (cNF), benign dermal tumours that have a large impact on the patient\'s Quality of Life (QoL). The French cNF-Skindex is the first questionnaire to specifically assess cNF-related QoL in patients with NF1. We aimed to adapt and validate a Dutch version of the cNF-Skindex.
METHODS: The questionnaire was translated using forward and backwards translation, and subsequently administered to a sample of 59 patients on two separate occasions. Feasibility was evaluated by the presence of floor/ceiling effects. Reliability was assessed by evaluating internal consistency and test-retest reliability, by calculating Cronbach\'s alpha and Spearman\'s rank correlation coefficients. The EQ-5D-5L and SF-36 were used to evaluate convergent validity, using Spearman\'s rank correlation coefficients. An exploratory factor analysis was performed to study the data\'s internal structure. Multivariable linear regression was used to model the relationship between patient characteristics and the cNF-Skindex.
RESULTS: The Dutch cNF-Skindex demonstrated excellent feasibility and reliability (Cronbach\'s alpha 0.96, test-retest correlation coefficient 0.88). Convergent validity was confirmed for the EQ-5D-5L and relevant SF-36 scales. All items and subdomains from the original questionnaire were confirmed following exploratory factor analysis. The patient characteristics included in the multivariable linear regression were not significantly associated with the cNF-Skindex score.
CONCLUSIONS: The Dutch cNF-Skindex displayed excellent psychometric properties, enabling use in the Netherlands.

We report an unusual constellation of diseases in a 32-year-old woman with neurofibromatosis type 1 (NF1) diagnosed with the recently described precursor entity of malignant peripheral nerve sheath tumor (MPNST), the so-called atypical neurofibromatous neoplasm with unknown biological potential (ANNUBP) and a large symptomatic cervical arteriovenous fistula. An [18F] 2-Fluoro-2-deoxy-D-glucose PET/CT (FDG-PET/CT) was performed to detect and stage a conspicuous symptomatic cervical tumor. The FDG-PET/CT showed high FDG uptake in one of the multiple known tumorous lesions associated with peripheral nerves. However, no relevant FDP uptake was observed in this affected cervical area. After digital subtraction angiography, the cervical mass turned out to be a widespread arteriovenous fistula of the vertebral artery. This was successfully treated using endovascular embolization. Subsequently, magnet resonance imaging (MRI) of the FDG-positive tumor revealed a well-enhanced homogeneous mass of the sciatic nerve measuring 5.2×2.4×2.8 cm. Microsurgical gross total tumor resection was performed using ultrasound. The final histopathological diagnosis was ANNUBP transformed from neurofibroma. The patient benefited excellently from the surgery; no recurrence or metastasis has been observed since resection. According to imaging, ANNUBP can be characterized as a well-enhanced homogeneous mass on MRI, displaying high uptake on FDG-PET/CT and hypoechogenic in ultrasound.

A 63-year-old patient with skin neurofibromas since birth was brought to emergency in a critical state due to massive bleeding per rectum. After stabilization and massive transfusion, the patient underwent Gastro-Intestinal (GI) endoscopy and abdominal computed tomography. A mass was identified in the jejunum. On laparotomy, multiple neurofibromas were seen in the jejunum. The segment with bleeding tumour was resected. Histopathology revealed benign spindle cell neoplasm, a gastrointestinal stromal tumour. The patient recovered and was discharged on day 15.