The isolated gastric neurofibroma is a rare disease and is difficult to be diagnosed before operation. Six patients with this disease were admitted to our hospital from 1992 to 1995. The methods of diagnosis included being alert to this disease, ultrasonic gastroscope and immunopathologic examination, especially the latter. It should be differentiated from carcinoma, leiomyoma,and lymhposarcoma of the stomach. Two of these patients received laparoscopic local resection of the tumor, and the others partial gastric resection.
Objective To summarize the gene therapy strategies for neurofibromatosis type 1 (NF1) and related research progress. Methods The recent literature on gene therapy for NF1 at home and abroad was reviewed. The structure and function of the NF1 gene and its mutations were analyzed, and the current status as well as future prospects of the transgenic therapy and gene editing strategies were summarized. Results NF1 is an autosomal dominantly inherited tumor predisposition syndrome caused by mutations in the NF1 tumor suppressor gene, which impair the function of the neurofibromin and lead to the disease. It has complex clinical manifestations and is not yet curable. Gene therapy strategies for NF1 are still in the research and development stage. Existing studies on the transgenic therapy for NF1 have mainly focused on the construction and expression of the GTPase-activating protein-related domain in cells that lack of functional neurofibromin, confirming the feasibility of the transgenic therapy for NF1. Future research may focus on split adeno-associated virus (AAV) gene delivery, oversized AAV gene delivery, and the development of new vectors for targeted delivery of full-length NF1 cDNA. In addition, the gene editing tools of the new generation have great potential to treat monogenic genetic diseases such as NF1, but need to be further validated in terms of efficiency and safety. ConclusionGene therapy, including both the transgenic therapy and gene editing, is expected to become an important new therapeutic approach for NF1 patients.
ObjectiveTo summarize the treatment strategies and clinical experiences of 5 cases of giant plexiform neurofibromas (PNF) involving the head, face, and neck. MethodsBetween April 2021 and May 2023, 5 patients with giant PNFs involving the head, face, and neck were treated, including 1 male and 4 females, aged 6-54 years (mean, 22.4 years). All tumors showed progressive enlargement, involving multiple regions such as the maxillofacial area, ear, and neck, significantly impacting facial appearance. Among them, 3 cases involved tumor infiltration into deep tissues, affecting development, while 4 cases were accompanied by hearing loss. Imaging studies revealed that all 5 tumors predominantly exhibited an invasive growth pattern, in which 2 and 1 also presenting superficial and displacing pattern, respectively. The surgical procedure followed a step-by-step precision treatment strategy based on aesthetic units, rather than simply aiming for maximal tumor resection in a single operation. Routine preoperative embolization of the tumor-feeding vessels was performed to reduce bleeding risk, followed by tumor resection combined with reconstructive surgery. Results All 5 patients underwent 1-3 preoperative embolization procedures, with no intraoperative hemorrhagic complications reported. Four patients required intraoperative blood transfusion. A total of 10 surgical procedures were performed across the 5 patients. One patient experienced early postoperative flap margin necrosis due to ligation for hemostasis; however, the incisions in the remaining patients healed without complications. All patients were followed up for a period ranging from 6 to 36 months, with a mean follow-up duration of 21.6 months. No significant tumor recurrence was observed during the follow-up period. Conclusion For patients with giant PNF involving the head, face, and neck, precision treatment strategy can effectively control surgical risks and improve the standard of aesthetic reconstruction. This approach enhances overall treatment outcomes by minimizing complications and optimizing functional and cosmetic results.
ObjectiveTo evaluate the effectiveness of Cross-Union surgery for the treatment of pseudarthrosis of the tibia (PT) with neurofibromatosis type 1 (NF1). MethodsThe clinical data of 8 children of PT with NF1 who met the selection criteria between January 2018 and December 2023 was retrospectively analyzed. There were 5 boys and 3 girls, and the operative age ranged from 1.8 to 13.3 years with a median age of 3.5 years. According to Paley classification, there were 2 cases of type 2a, 2 cases of type 3, 2 cases of type 4a, and 2 cases of type 4c. There were 5 cases of first operation and 3 cases of re-fracture after previous operation. Six cases had leg length discrepancy before operation, and 2 of them had shortening over 2.0 cm. Except for 1 case of ankle fusion, the other 7 cases had ankle valgus. Preoperative coronal/sagittal angulation was recorded. Postoperative pseudarthrosis healing and refracture were observed. Leg length discrepancy and tibiotalar angle were measured and recorded before operation and at last follow-up. Inan imaging evaluation criteria was used to evaluate the imaging effect. ResultsAll patients were followed up 12-37 months (mean, 23.5 months). One pseudarthrosis failed to heal at 12 months after operation and healed at 3 months after reoperation, while the other pseudarthrosis healed with a healing rate of 87.5% and a healing time of 4-8 months (mean, 5.3 months). No refracture occurred during the follow-up. At last follow-up, there were 2 new cases with leg length discrepancy, which were 0.7 cm and 1.3 cm, respectively. In 2 cases with the leg length discrepancy more than 2.0 cm before operation, the improvement was from 4.1 cm and 12.6 cm to 2.1 cm and 9.0 cm, respectively. There was no significant difference in leg length discrepancy between pre- and post-operation in 8 cases (P>0.05). At last follow-up, 6 patients still had ankle valgus, and there was no significant difference in the tibiotalar angle between pre- and post-operation (P>0.05); the tibial coronal/sagittal angulation significantly improved when compared with that before operation (P<0.05). According to Inan imaging evaluation criteria, 1 case was good, 6 cases were fair, and 1 case was poor. Conclusion Cross-Union surgery is an effective method for the treatment of PT with NF1 in children, can achieve good bone healing results with a low risk of re-fracture. The surgery may not have significant effects on leg length discrepancy and ankle valgus, and further treatment may be required.
Objective To summarize the latest developments in neurosurgical treatments for neurofibromatosis type 1 (NF1) and explore therapeutic strategies to provide comprehensive treatment guidelines for clinicians. Methods The recent domestic and international literature and clinical cases in the field of NF1 were reviewed. The main types of neurological complications associated with NF1 and their treatments were thorough summarized and the future research directions in neurosurgery was analyzed. Results NF1 frequently results in complex and diverse lesions in the central and peripheral nervous systems, particularly low-grade gliomas in the brain and spinal canal and paraspinal neurofibromas. Treatment decisions should be made by a multidisciplinary team. Symptomatic plexiform neurofibromas and tumors with malignant imaging evidence require neurosurgical intervention. The goals of surgery include reducing tumor size, alleviating pain, and improving appearance. Postoperative functional rehabilitation exercises, long-term multidisciplinary follow-up, and psychosocial interventions are crucial for improving the quality of life for patients. Advanced imaging guidance systems and artificial intelligence technologies can help increase tumor resection rates and reduce recurrence. Conclusion Neurosurgical intervention is the primary treatment for symptomatic plexiform neurofibromas and malignant peripheral nerve sheath tumors when medical treatment is ineffective and the lesions progress rapidly. Preoperative multidisciplinary assessment, intraoperative electrophysiological monitoring, and advanced surgical assistance devices significantly enhance surgical efficacy and safety. Future research should continue to explore new surgical techniques and improve postoperative management strategies to achieve more precise and personalized treatment for NF1 patients.