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.
ObjectiveTo explore the plastic surgical treatment and the way to reduce hemorrhage for scalp and facial plexiform neurofibromas. MethodsBetween July 2004 and July 2013, 20 patients with scalp and facial plexiform neurofibromas (17 cases of neurofibromatosis type Ⅰ and 3 cases of plexiform neurofibroma) were treated, and the clinical data were retrospectively analyzed. There were 9 males and 11 females with an average age of 37 years (range, 18-56 years). The disease duration ranged from 8 to 56 years (mean, 19 years). The scalp was involved in 6 cases, the face in 7 cases, and both the scalp and face in 7 cases. The extent of involvement ranged from 4 cm×3 cm to 15 cm×13 cm. Obvious pigmentation was seen in 2 cases. Endovascular embolization was performed before surgical intervention in 4 cases. Preliminary sutures around the lesion were carried out in 18 cases having an involved range over 5 cm×5 cm. One-stage excision was performed in 17 cases, and two-stage excision in 3 cases. Wound repair and facial orthopedic treatment were performed after tumor excision. ResultsThe intraoperative blood loss was 100-500 mL (mean, 300 mL) for patients undergoing single operation. For 3 patients undergoing two-stage excision, the blood loss of the first operation was 500, 600, and 800 mL respectively, and the blood loss of the second operation was all 50 mL. Autologous blood transfusion of 200, 400, and 400 mL was performed in 3 cases respectively. The preliminary sutures were removed at 3-7 days (mean, 5 days) after operation. All the incisions healed primarily without secondary hemorrhage and hematoma, and the flap and skin graft survived totally. Fifteen patients were followed up 1 year to 7 years (mean, 2.5 years). All patients showed significant improvement in appearance. No significant progression, expanding, and sagging were observed. ConclusionEndovascular embolization and preliminary sutures around the lesion can be used to reduce hemorrhage in resection of plexiform neurofibroma in the scalp and face. Personalized surgical plan of benign neurofibromatosis should be made to reduce the tumor mass, to improve function and appearance.
ObjectiveTo review the research progress of pathogenesis mechanism of spinal deformity in neurofibromatosis type 1 (NF1). MethodsRecent literature concerning the pathogenesis mechanism of spinal deformity in NF1 was extensively reviewed, and current developments of the correction of spinal deformity and NF1 and the pathogenesis mechanism were summarized. ResultsThe pathogenesis mechanism of spinal deformity in NF1 is not yet clearly known. Current theories include erosion and stress of neurofibromas, melatonin-related decreased contractility of paraspinal muscles, osteopenia and osteoporosis, sexual precocity and mesoderm dysplasia. ConclusionThe clinical manifestations of NF1 may cause the spinal deformities in patients with NF1. The research of pathogenesis mechanism of spinal deformity in NF1 will be conducive to further understanding, diagnosis and treatment of NF1-related spinal deformity.
Neurofibromatosis type 1 (NF1) is an autosomal dominant neoplastic disease caused by mutations in the NF1 gene and one of the most challenging diseases to treat. Patients have a characteristic phenotype with neurofibromas as the main features in different forms, including numerous cutaneous neurofibromas, plexiform neurofibromas involving the primary nerves, or malignant peripheral nerve sheath tumors with a very short survival period after malignant transformation. NF1 patients also suffer from multi-system involvement, with a high rate of deformity and disability, making complete surgical resection more difficult. Currently, there is no consensus on the diagnosis and treatment of NF1 in China, and different disciplines have different understandings of NF1. Multidisciplinary systematic evaluations and cooperative treatments are the keys to improve the treatment, quality of life, and prognosis of NF1 patients. In 2020, the Department of Plastic Surgery of the Ninth People’s Hospital of Shanghai Jiaotong University School of Medicine led the establishment of the first multi-center collaboration group for NF1 in China. Furthermore, the group had worked with renowned experts from the various departments including surgical oncology, medical oncology, dermatology, reproductive medicine, et al. in China to formulate the “Expert consensus on diagnosis and management of neurofibromatosis type 1 (2021 edition)”, aiming to promote standardized and homogeneous treatment covering the whole life cycle of NF1 patients and improve the treatment level and outcome of NF1 patients in China.
ObjectiveTo summarize current widely-used therapies for cutaneous neurofibroma (cNF) and related research progress. MethodsBased on extensive investigation of domestic and foreign research, the existing treatment of cNF, including the indications, effectiveness and trials of targeted drugs were reviewed. ResultscNF is a hallmark feature of neurofibromatosis type 1 and has a dramatic negative impact on patient appearance and quality of life. At present, there is no standard management of cNF. Invasive treatment is a commonly-used treatment. Surgical removal gives excellent cosmetic results, but it is difficult for multiple tumors; CO2 laser ablation, laser photocoagulation, electro-drying, and radiofrequency ablation are effective in treating lots of cNF at one time. Although fast and effective, these therapies can lead to depigmentation, hyperpigmentation, or extensive scarring. There is no targeted drug approval for cNF, and a series of studies have been carried out on the Ras-MEK pathway, Ras-mTOR pathway, receptor tyrosine kinase, et al. ConclusionThe treatment of cNF has developed rapidly in recent years and has broad prospects, but the individualization and precision of the treatment still needs further clinical research.
ObjectiveTo observe the imaging characteristics of fundus choroidal nodules in patients with neurofibromatosis type 1 (NF1). MethodsA retrospective clinical study. From January 2018 to August 2022, 20 eyes of 10 patients with NF1 combined with choroidal nodules who were diagnosed by ophthalmology examination at the Affiliated Hospital of Yunnan University were included in the study. Among them, there were 6 male cases with 12 eyes and 4 female cases with 8 eyes; both eyes were affected. Age was (28.0±6.9) years old. Both eyes were involved. All patients underwent color fundus photography, infrared fundus photography (IR), fundus autofluorescence (FAF), fluorescein fundus angiography (FFA), and optical coherence tomography (OCT). Nine eyes underwent multi-wavelength color imaging (MC) and 5 eyes underwent OCT angiography (OCTA). ResultsIn 20 eyes, fundus color photography showed "spiral-like" changes in the small retinal blood vessels on the surface of the choroidal nodules in 1 eye. FAF and FFA examination showed no abnormalities in all affected eyes. On IR examination, choroidal nodules appeared as strong reflective lesions of varying sizes and numbers, in the form of spots and/or sheets, and were partially fused. In the 9 eyes that underwent MC examination, patchy red signals was observed in standard MC images. OCT examination showed that all affected eyes had strong choroidal reflective mass lesions under the retinal pigment epithelium, which were flat patchy or slightly raised “dome-like”, corresponding to IR strong reflective lesions. The choriocapillaris layer was squeezed and thinned, and the large choroidal vessels show weak reflection. Five eyes underwent OCTA examination, there was no loss of blood flow density at the choroidal nodules and the of the superficial an deep retinal capillary plexus in 3 eyes. The choroidal capillary blood flow density was reduced in 2 eyes. ConclusionIR of choroidal nodules is characterized by strong reflection lesions of varying sizes and numbers, which appear in spots and/or sheets. OCT shows enhanced reflection of the choriocapillaris layer corresponding to the strong IR reflection lesions.
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 terms and definitions related to neurofibromatosis type 1 (NF1) with a view to standardizing and unifying the existing terminology system. Methods To review the research literature related to NF1 at home and abroad, and to summarize the expressions of the disease and related terms. Results There are still some limitations in the current knowledge of NF1, especially in the expression of the terminology, and there are discrepancies in the description and naming of NF1-related features in different medical literatures and clinical guides. There are differences in the description and naming of NF1-related features in different medical literature and clinical guidelines. Through a systematic review of the literature, this paper provides a detailed compendium and summary of the terms and definitions of NF1-related clinical manifestations, pathological features, and genetic types, and further standardizes and unifies existing diagnostic criteria and terminology systems. ConclusionThe terms and definitions of NF1-related clinical manifestations are summarized to enhance the knowledge of clinicians and researchers related to NF1.
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.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease caused by mutations in the NF1 gene. The disease is characterized by neurofibromatosis, which simultaneously affects multiple systems such as nerves, skin, and bone, and has complex clinical manifestations. Since the National Institutes of Health (NIH) established diagnostic criteria in 1988, the diagnosis and treatment of NF1 have progressed significantly. However, due to the complexity of the disease and the lack of effective treatments, the diagnosis and treatment of NF1 still face many challenges. Strengthening multidisciplinary collaboration, improving and popularizing disease diagnosis and treatment strategies, and developing more effective drugs and treatment methods are the keys to further improve the treatment level of NF1 diseases.