Objective To investigate the clinical features, treatment methods, and prognostic influence factors of patients with malignant peripheral nerve sheath tumor (MPNST). MethodsA retrospective analysis was conducted on 96 MPNST patients treated between January 1, 2015 and December 31, 2021. There were 46 males and 50 females, aged between 15 and 87 years (mean, 48.2 years). The tumors were located in the trunk in 50 cases, extremities in 39 cases, and head and neck in 7 cases. The maximum tumor diameter was <5 cm in 49 cases, ≥5 cm in 32 cases, with 15 cases missing data. Tumor depth was deep in 77 cases and superficial in 19 cases. The Fédération Nationale des Centres de Lutte Contre le Cancer (FNCLCC) histological grading was G1 in 9 cases, G2 in 12 cases, and G3 in 34 cases, with 41 cases missing data. There were 37 recurrent MPNST cases, 32 cases with neurofibromatosis type 1 (NF1), and 26 cases in stage Ⅳ. Postoperative adjuvant radiotherapy was administered to 25 patients, perioperative chemotherapy to 45 patients, and anlotinib-targeted therapy to 30 patients. R0 resection was achieved in 73 cases. Patients were divided into groups based on the presence or absence of NF1, and baseline data between the two groups were compared. Kaplan-Meier curves were generated to assess disease-free survival (DFS) and overall survival (OS) based on various factors (age, gender, presence of NF1, recurrent MPNST, stage Ⅳ MPNST, FNCLCC grade, R0 resection, tumor location, tumor size, tumor depth, perioperative chemotherapy, postoperative adjuvant radiotherapy, and anlotinib-targeted therapy), and differences between survival curves were analyzed using the Log-Rank test. Multivariate COX proportional hazards regression was used to identify independent prognostic factors for MPNST. Results Patients with NF1 had a significantly higher proportion of superficial tumors and lower FNCLCC grade compared to those without NF1 (P<0.05); no significant difference was found for other variables (P<0.05). Kaplan-Meier analysis showed that recurrent MPNST, stage Ⅳ MPNST, FNCLCC grade, R0 resection, perioperative chemotherapy, and anlotinib-targeted therapy were factors influencing 1-year DFS (P<0.05), while stage Ⅳ MPNST, FNCLCC grade, and perioperative chemotherapy were factors affecting 3-year OS (P<0.05). Multivariate COX proportional hazards regression analysis revealed that recurrent MPNST and high-grade FNCLCC (G3) were independent prognostic factors for 1-year DFS (P<0.05), while stage Ⅳ MPNST, superficial tumor depth, age over 60 years, postoperative adjuvant radiotherapy, and anlotinib-targeted therapy were independent prognostic factors for 3-year OS (P<0.05). Conclusion MPNST patients with NF1 tend to have more superficial tumors and lower FNCLCC grades. FNCLCC grade, R0 resection, and adjuvant therapies, including radiotherapy and anlotinib-targeted therapy, are closely associated with MPNST prognosis. Complete surgical resection should be prioritized in clinical management, along with adjuvant treatments such as radiotherapy and targeted therapy of anlotinib to improve patient outcomes.
目的 总结1例腹膜后神经鞘瘤合并胃神经鞘瘤的临床诊疗方法。 方法 2010年12月收治1例女性患者，因呕血行CT检查发现胃体前壁及右肾上腺区占位入院，行胃楔形切除术及右肾上腺肿瘤切除术治疗。 结果 术后病理证实为腹膜后神经鞘瘤合并胃神经鞘瘤，随访半年无复发。 结论 腹膜后神经鞘瘤合并胃神经鞘瘤病例罕见且诊断困难，影像学检查缺乏特异性，可依靠术后病理检查确诊；外科手术完整切除肿瘤是有效的治疗方法，预后较好。
ObjectiveTo summarize the clinicopathological features of microencapsulated/reticular schwannoma.MethodsTwo cases of microencapsulated/reticular schwannoma treated in West China Hospital of Sichuan University were retrospectively collected. The histological and immunohistochemical features were summarized, and the related literatures were reviewed.ResultsTwo cases of microcystic/reticular neurilemmoma diagnosed and treated in West China Hospital of Sichuan University were male. The clinical manifestations were “dull pain in the right lower abdomen” and “mass of left index finger”. Microscopically, the characteristic reticular or cribriform structures were found in all cases, and lymphocytic sheath was seen in 1 case. Immunohistochemical staining showed S-100, glial fibrillary acidic protein (GFAP) and calretinin positive. By February 2020, only 41 cases were reported in the literatures （there were no cases of this group),there was no significant gender difference, the median age was 55 years (11–93 years), and the median size of the lesion was 2.1 cm (0.4–13.0 cm). Most of them were found by accident, without obvious symptoms and signs, and no history of neurofibromatosis type 1 or 2. Microencapsulated/reticular schwannoma in this patients mainly occurs in the viscera, especially in the gastrointestinal tract (mostly in the the colorectal of lower gastrointestinal tract ), most of them were solitary nodular masses without capsule. Microscopically, the boundary was clear, and the characteristic microcapsules and reticular structures were seen. The tumor cells were diffusely expressing S-100 protein, and GFAP and calretinin were expressed in varying degrees. Electron microscopy showed the characteristics of Schwann cells.ConclusionsMicrocystic/reticular schwannoma is a rare subtype of schwannoma, which needs to be differ-entiated from multiple benign and malignant neoplasms. The diagnosis of the tumor is a challenge for the pathologist.
Objective To explore the clinical features, surgical treatment, and effectiveness of neurofibromas associated with neurofibromatosis type 1 (NF1). Methods A clinical data of 41 patients with NF1 admitted between December 2018 and April 2024 was retrospectively analyzed. There were 15 males and 26 females, with an average age of 27.5 years (range, 5-61 years). Only one type of neurofibroma existed in 3 patients and the rest of the patients had more than two types of neurofibromas. Fourteen patients had total resection of multiple cutaneous neurofibromas (CNF). Eighteen patients of diffuse neurofibromas underwent total, near-total, or subtotal resection. Among the 13 patients of localized nodular neurofibromas, 9 of benign tumors underwent total sub-capsular resection and 4 of malignant peripheral nerve sheath tumor (MPNST) underwent maginal resection, and only 1 underwent postoperative radiotherapy and chemotherapy. Among the 15 patients of plexiform neurofibromas (PNF), 5 patients underwent both superficial and deep PNF resection, 2 underwent the superficial PNF resection, and 8 underwent the large nodular lesions in the deep PNF resection. There were 8 MPNST, of which 7 cases underwent total sub-capsular resection and large tumor capsule resection under neurophysiological monitoring, and 1 case with the tumor located on the top of the head underwent wide resection and skin grafting. One patient underwent proton knife therapy after surgery, 2 patients did not receive radiotherapy, and the remaining patients received conventional radiotherapy. Results All patients were followed up after surgery, and the follow-up time was 3-66 months, with an average of 25.0 months. Patients with CNF recovered satisfactorily after surgery, and there was no recurrence during follow-up. Patients with diffuse neurofibromas relieved preoperative symptoms after surgery. Three patients with diffuse neurofibromas located in the head and face recurred during follow-up. The patients with benign localized nodular neurofibromas recovered well after surgery, and only 1 patient had transient regional neuralgia after surgery. Among the patients with MPNST, 2 patients died of recurrence and lung metastasis, while the remaining 2 patients had no recurrence and metastasis during follow-up. All preoperative symptoms disappeared in patients with benign PNF, and no tumor recurrence was observed during follow-up. Two patients with PNF located in the brachial plexus had difficulty in shoulder abduction after surgery, 1 patient with PNF located in vagus developed hoarseness after surgery. Among the 8 patients with MPNST in PNF, 1 died of lung metastases and 1 died of systemic failure. The remaining 6 patients were in stable condition during follow-up, and no tumor recurrence or metastasis was observed. Conclusion According to the clinical features of neurofibromas in patients with NF1, choosing appropriate surgical approaches can obtain good effectiveness. Because of the difficulty of completely resection, diffuse neurofibromas, especially those located in the head and face, are prone to recurrence after surgery. MPNST has the worst prognosis, high incidence of recurrence/metastasis, and short survival period. Total resection combined with radiotherapy can decrease local recurrence.
Schwannoma originating in the retroperitoneal space is relatively rare. The author reported a case of retroperitoneal Schwannoma confirmed by surgery and pathology, presented the typical CT and MRI manifestations of Schwannoma——“target signs”, described the pathophysiological mechanism and image differential diagnosis of the disease, so as to strengthen readers’ understanding of the typical signs of Schwannoma and improve the correct diagnosis rate of the disease.
Objective To explore the role and clinical significance of cell-cycle dependent kinase 1 (CDK1) and its upstream and downstream molecules in the development of malignant peripheral nerve sheath tumor (MPNST) through the analysis of clinical tissue samples. Methods A total of 56 tumor samples from MPNST patients (“Tianjin” dataset) who underwent surgical resection, confirmed by histology and pathology between September 2011 and March 2020, along with 17 normal tissue samples, were selected as the research subjects. MPNST-related hub genes were identified through transcriptome sequencing, bioinformatics analysis, immunohistochemistry staining, and survival analysis, and their expression levels and prognostic associations were analyzed. Results Transcriptome sequencing and bioinformatics analysis revealed that upregulated genes in MPNST were predominantly enriched in cell cycle-related pathways, with CDK1 occupying a central position among all differentially expressed genes. Further differential analysis demonstrated that CDK1 mRNA expression in sarcoma tissues was significantly higher than in normal tissues [based on searching the cancer genome atlas (TCGA) dataset, P<0.05]. In MPNST tissues, CDK1 mRNA expression was not only significantly higher than in normal tissues (based on Tianjin, GSE141438 datasets, P<0.05), but also significantly higher than in neurofibromatosis (NF) and plexiform neurofibromas (PNF) (based on GSE66743 and GSE145064 datasets, P<0.05). Immunohistochemical staining results indicated that the expression rate of CDK1 protein in MPNST tissues was 40.31%. Survival analysis results demonstrated that CDK1 expression was associated with poor prognosis. The survival time of MPNST patients with high CDK1 mRNA expression was significantly lower than that of the low expression group (P<0.05), and the overall survival trend of patients with positive CDK1 protein expression was worse than that of patients with negative CDK1 expression. Additionally, differential analysis of CDK family genes (CDK1-8) revealed that only CDK1 was significantly upregulated in MPNST, NF, and PNF. Conclusion Increased expression of CDK1 is associated with poor prognosis in MPNST patients. Compared to other CDK family members, CDK1 exhibits a unique expression pattern, suggesting its potential as a therapeutic target for MPNST.
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.
ObjectiveTo investigate the sonographic characteristics and diagnostic value of color Doppler sonography for patients with renal schwannoma. MethodsTen patients with pathologically confirmed renal schwannoma dimensional ultrasonography treated between January 2008 and May 2014 were included in this study. We analyzed and summarized their color flow distribution characteristics. ResultsThe ultrasound of the 10 patients showed substantial hypoechoic mass with clear boundary and complete capsule; color Doppler flow imaging displayed mass within the probe and a small amount of dotted blood flow information or no obvious blood flow information. Four patients were suspected to have schwannoma before surgery by ultrasound diagnosis, while the remaining 6 cases only showed benign lesions without clear diagnosis. All the patients underwent surgery subsequently under laparoscope, and resection of the tumor was performed with the integrity of normal kidney tissue retained. Postoperative recovery was good, and follow-up did not detect any recurrence. ConclusionColor Doppler ultrasound has a certain specificity on the diagnosis of renal schwannoma. Combined with other examination methods, it can not only give the clinicians a good suggestion, but avoid laparotomy.
ObjectiveTo re-understand the nerve sheath tumors of the breast, to improve its diagnosis and cure rate.MethodSearched the relevant literatures of nerve sheath tumors of the breast, to analyze and summarize the origin, etiology, clinical manifestations, imaging characteristics, pathological characteristics, treatment, and prognosis of this disease.ResultsNerve sheath tumors of the breast was a very rare disease, which originated in the neuromembrane Snowwang cells. its specific cause was unknown and clinical manifestations were not specific, and other breast diseases were difficult to identify, such as leaf ybrilloma, mammary vascular epidermal cytoma, breast fibroids, and so on. Imaging data could provide some reference value, but the gold standard relied on pathology and immunohistochemical examination. Surgery could cure benign nerve sheath tumors of the breast, but there was a possibility of malignant changes that required follow-up after surgery. Malignant neuroblastoma was mainly surgically removed, supplemented by chemotherapy, which could effectively prevent the recurrence of tumor and distant metastasis. The prevention of nerve sheath tumors of the breast could be referred to breast cancer screening.ConclusionsDuring clinical practice, we need to understand the diagnosis and treatment of nerve sheath tumors of the breast to achieve early detection, early diagnosis, and early treatment, as well as improve the diagnosis rate and cure rate of the disease, in order to protect women’s physical and mental health.