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 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 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.
ObjectiveTo investigate the procedure and effectiveness of posterior approach for operation of atlantoaxial subdural extramedullary nerve sheath tumors.MethodsBetween January 2012 and March 2017, 9 patients with atlantoaxial subdural extramedullary nerve sheath tumors were treated, including 7 males and 2 females, aged 25-62 years (mean, 45.4 years). There were 8 cases of neurinoma and 1 case of neurofibroma. The tumors were located at C1 in 1 case and C1, 2 in 8 cases. The disease duration ranged from 5 to 120 months, with an average of 45.9 months. The neural function was rated as grade D in 8 cases and grade E in 1 case according to the American Spinal Injury Association (ASIA) grading system. The Japanese Orthopaedic Association (JOA) score was 12.8±2.5. All patients underwent posterior cervical surgery. The laminae were replanted and fixed in 2 cases. The atlantoaxial or occipitocervical axis was not fixed in all patients.ResultsThe operation time was 90-343 minutes, with an average of 179.2 minutes. The intraoperative blood loss was 50-1 000 mL, with an average of 335.6 mL. No relevant complication occurred after operation. All patients were followed up 6-21 months (mean, 11.1 months). The postoperative X-ray films showed the good stability of the cervical spine. All patients had complete tumor resection and no recurrence. The replanted laminae achieved fusion and the internal fixation was firm. According to ASIA grading system, 3 patients of preoperative ASIA grade D had upgraded to grade E at 3 months after operation, while the remaining patients had no change in grading. The JOA score was 15.1±1.4 at 6 months after operation, which was significantly improved when compared with that before operation (t=4.221, P=0.003).ConclusionThe atlantoaxial subdural extramedullary nerve sheath tumor (including the ventral tumor) can be removed completely via posterior approach. The axis lamina can be replanted and fixed with the small titanium plate or lamina screw when necessary, and the atlantoaxial or occipitocervical fixation was not needed.
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.
摘要:目的: 探讨磁共振波谱(MRS)对鉴别桥小脑角神经鞘瘤与脑膜瘤的价值。 方法 :对8例神经鞘瘤和8例脑膜瘤病例进行MRI平扫和增强扫描,并采用点分辨波谱序列(PRESS,TR/TE=2000/136ms)进行单体素波谱分析。从事磁共振诊断专业的医师根据肿瘤的MRI及MRS表现特征进行鉴别诊断。 结果 :尽管多数神经鞘瘤(5/8)和脑膜瘤(6/8)具有典型的MRI表现特征并仅经MRI即可得到正确鉴别,但部分病例(5/16)为不典型表现者,如脑膜瘤呈长T1长T2信号并伴有囊变,以及神经鞘瘤呈等信号、均匀强化且不伴有囊变或内听道扩大者,鉴别诊断困难。MRS显示脑膜瘤的胆碱/肌酸比值(Cho/Cr)(2.74±1.47)略高于神经鞘瘤(2.70±1.21),但差异无统计学意义。丙氨酸(Ala)在脑膜瘤中的出现率(4/8)显著高于神经鞘瘤(0/8)(Plt;0.05),谷氨酸盐/谷氨酰胺(Glx)在脑膜瘤中的出现率(5/8)也高于神经鞘瘤(2/8);而肌醇(Ins)在神经鞘瘤中的出现率(4/8)高于脑膜瘤(2/8)。结合MRS表现,在MRI上尚难鉴别的病例可被明确诊断,并与最终病理结果相符。 结论 : MRI有助于多数桥小脑角神经鞘瘤与脑膜瘤的鉴别诊断,但对不典型病例有一定局限性;MRS对不典型病例的鉴别具有重要的参考价值。Abstract: Objective: To explore the value of magnetic resonance spectroscopy (MRS) in the differentiation of neurinoma and meningioma in the cerebellopontine angle. Methods : 16 cases, including 8 cases of meningiomas and 8 cases of neurinomas, underwent MRI (plan and gadoliniumenhanced scan) and singlevoxel proton MRS (PRESS series, TR/TE=2000/136ms). MRI and MRS results were reviewed and differential diagnoses were made by professional radiologists. Results : Although most cases (11/16) were typical and clearly classified on MRI, atypical cases were also observed, such as meningioma of long T1/T2 signal intensity with small cystic foci, and neurinoma of isointensity and homogenous enhancement without cystic change or enlargement of internal acoustic meatus. The choline to creatine ratio (Cho/Cr) of meningioma (2.74±1.47) was higher than that of neurinoma (2.70±1.21), however the difference was not significant (Pgt;0.05). Alanine was observed in 4/8 meningiomas but none of neurinomas (Plt;0.05), and glutamine/glutamate was more frequently visualized in meningiomas (5/8) than in neurinomas (2/8), whilemyoinositol was more frequently observed in neurinomas (4/8) than in meningiomas (2/8). With MRS, cases difficult to differentiate were clearly and correctly classified. Conclusion : Although most CPA neurinomas and meningiomas can be diagnosed by MRI, MRS is useful for the differential diagnosis of atypical cases.