BACKGROUND AND OBJECTIVE

Meningiomas represent the most prevalent benign intracranial tumors, comprising 13- 26% of primary intracranial neoplasms. These tumors derive their blood supply from both extracranial and intracranial circulation. Over recent decades, pre-operative embolization (POE) has emerged as a potential adjunctive therapy to surgery, aiming to reduce tumor vascularity. Our study seeks to explore the potential correlation between the extent of devascularization following POE of meningiomas and intraoperative blood loss.

This cross-sectional study involved nine meningioma patients at a tertiary hospital, involving chart review of patients across four years. These patients were referred for POE due to angiographic evidence of a hypervascular mass between January 2018 and January 2022. We collected demographic data, tumor characteristics (including location, size, and vascular supply), and intraoperative variables such as total operative time and blood loss. Statistical analyses aimed to uncover correlations between vascularization degree and various factors.

Our population consists predominantly of females (53.68%), with a mean age of 45.85 ± 13.65 years. Only one mortality was recorded (7.7%). Pre-operative embolization achieved devascularization in the majority (69.2%) of cases, with approximately two-thirds (66.7%) experiencing complete devascularization. Mean total operative time stood at 336.11 ± 301.88 minutes, with a mean post-operative blood loss of 985.56 ± 1013.72 milliliters. Additionally, for those with recorded recovery times, the mean recovery time was 14.32 ± 13.51 hours.

Mortality rates showed no association with sex, devascularization status, or number of feeding vessel zones. Furthermore, the extent of devascularization did not correlate with age, sex, number of feeding vessel zones, postoperative blood loss, total operative time, or recovery time (p >0.05).

In summary, this study represents a significant endeavor to elucidate factors influencing meningioma outcomes following pre-operative embolization. Despite limitations regarding patient numbers, our study offers valuable insights into operative parameters and embolization considerations for future analyses in our tertiary center.

OBJECTIVES: This study aimed to evaluate the diagnostic accuracy of Cyclin D1 as an adjunct immunomarker in CD99 positive small round cell neoplasms with primary consideration of PNET/EWS. MATERIALS AND METHODS: Tissue from 2017 to 2023 with a histopathologic diagnosis of CD99 positive small round blue cell tumors with primary consideration of Primitive Neuroectodermal Tumor (PNET)/Ewing Sarcoma were retrieved and Cyclin D1 immunohistochemical staining done. Diagnostic accuracy of Cyclin D1 immunostaining was determined by calculating the sensitivity, specificity, positive predictive value, and negative predictive value. RESULTS: Cyclin D1 immunohistochemical staining was performed in 19 specimens available, of which 13 yielded a positive result. Of these, 8 had a final histopathologic diagnosis of CD99 positive small round blue cell tumor with primary consideration of PNET/Ewing Sarcoma, resulting in sensitivity of 61.54%, specificity of 100%, positive predictive value of 100% and negative predictive value of 50.0%. The overall accuracy is 72.2%. CONCLUSION Cyclin D1 can be used as an adjunct immunomarker to aid in the diagnosis of CD99 positive round cell tumor with primary consideration of PNET/Ewing Sarcoma specifically in resource limited settings where molecular testing is not readily available. Given the high specificity of Cyclin D1 in such cases, it can be used to rule out other small round blue cell tumors that can also stain positive for CD99 such as Rhabdomyosarcoma. However, interpretation must be done in conjunction with the results of other immunohistochemical stains in order to increase its diagnostic accuracy.
Human ; Male,Female ; Cells ; Sarcoma, Ewing ; Sarcoma ; Neuroectodermal tumors, Primitive ; Cyclin D1

INTRODUCTION

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited condition seen in one of 4000 live births, predisposing to peripheral and central neurofibromas. Spinal tumors are seen in 40% of cases with NF1 and only 2% will develop symptoms, and among those who develop symptoms where 33% showed intradural extramedullary location. Thoracic spinal dumbbell neurofibroma is even rarer, and cases that extend to obliterate the posterior mediastinum even more so, with the case presented being the largest in size documented to date.

A 34-year-old female presented since childhood clinical findings consistent with Neurofibromatosis Type I: generalized cafe-au-lait macules, axillary freckling, cutaneous neurofibromas, two iris Lisch nodules identified via slit lamp examination, and anterolateral bowing of the right tibia, and no known parental history of Neurofibromatosis Type I. Prior to admission, the patient presented with progressive loss of motor strength of the lower extremities, and progressive dyspnea. Work-up revealed a Thoracic Intradural Extramedullary Neurofibroma extending to the Right Posterior Mediastinum measuring 15.3 cm x 12.9 cm x 9.7 cm in the thoracic cavity compressing the right lung and bronchus. An extensive two stage surgery was contemplated involving an initial resection of the Intradural mass, with spine instrumentation for support, and subsequent resection of the mediastinal extension. However, complications from the compressing tumor: complete cord transection syndrome causing spinal autonomic dysfunction, lung and airway compromise causing prolonged intubation and difficulty in weaning from mechanical ventilatory support, extensive thrombus formation in the right jugular vein, and nosocomial infections all created compounding difficulties for the surgical technique and anesthetic plan.

Cornerstone management for dumbbell spinal neurofibromas involves their total removal. The best results are obtained in patients showing minimal neurological deficits during the preoperative period. However, little improvement may be expected from patients who develop complete transection syndrome during the postoperative period. Concurrent medical management to prepare the patients are equally important. The multi-subspecialty approach required in managing these cases entails a good balance between the disability before the surgery, anticipated outcomes, and quality of life of the patients.

BACKGROUND AND OBJECTIVE

Awake craniotomy is often used in the surgery of glioma, the most common primary brain tumor. It has been proven to maximize the extent of tumor resection while minimizing post-operative neurologic deficits. Extensive research has been conducted on this topic, and we would like to perform a bibliometric analysis to identify the top 100 most cited articles in awake glioma surgery. Knowing the relevant and most impactful studies in the field would help clinicians streamline the evidence and determine its application in their practice.

In October 2023, we performed a title-specific search on the Scopus and PubMed databases using (“glioma*” OR “astrocytoma*” OR “glioblastoma” OR “low grade glioma” OR “high grade glioma”) and (“awake craniotomy” OR “awake surgery” OR “awake brain surgery” OR “awake neurosurgery”) as our query term without any restriction criteria. The top 100 most cited articles were identified, reviewed, and analyzed.

Our search yielded a total of 5557 articles published. The top article had a citation count of 834 and reported on functional outcome after language mapping in glioma resection. Journal of Neurosurgery had the most number of publications. Neurosurgeons (n=81) were the primary author in most publications, followed by anesthesiologists (n=22) and neurologists (n=6). Three countries (USA, France, Italy) contributed to 74% of the articles. Most of the articles were reviews and case reports/series.

This study identified the top 100 most cited articles on awake glioma surgery. The content dealt with several aspects of awake craniotomy such as brain mapping, intraoperative techniques and adjuncts, and practice recommendations. This analysis can help identify knowledge gaps and potential areas of research in glioma surgery.

Objective: To evaluate the incidence, treatment, and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor (MGCT-NDG). Methods: A retrospective study was performed on Swyer syndrome patients with MGCT-NDG between January 2011 and December 2022 in Peking Union Medical College Hospital to investigate their characteristics and outcomes. Results: A total of 15 patients (4.9%, 15/307) with Swyer syndrome were identified in 307 MGCT-NDG patients. The average age at diagnosis of MGCT-NDG and Swyer syndrome were (16.8±6.7) and (16.7±6.6) years, respectively. Six cases were preoperatively diagnosed as Swyer syndrome, of which 4 cases received bilateral gonadectomy with or without hysterectomy, while the other 2 cases underwent removal of gonadal tumor and unilateral gonadectomy with hysterectomy, respectively. Of the 9 patients postoperatively diagnosed as Swyer syndrome, unilateral gonadectomy, removal of gonadal tumor, and unilateral gonadectomy with hysterectomy were performed in 6 patients, 2 patients, and 1 patient, respectively. Mixed malignant germ cell tumor (MGCT;10 cases), yolk sac tumor (4 cases), and immature teratoma (1 case) were the pathological subtypes, in the descending order. There were International Federation of Gynecology and Obstetrics (FIGO) stage Ⅰ in 6 cases, stage Ⅱ in 3 cases, stage Ⅲ in 5 cases, and stage Ⅳ in 1 case, respectively. Eleven patients received reoperation for residual gonadectomy after a average delay of (7.9±6.2) months, including 8 MGCT-NDG patients and 1 gonadoblastoma patient, no tumor involved was seen in the remaining gonads in the other 2 cases. Ten patients experienced at least one recurrence, with a median event free survival of 9 months (5, 30 months), of which 2 patients received surgery only at the time of initial treatment. All patients with recurrence received surgery and combined with postoperative chemotherapy. After a median follow-up of 25 months (15, 42 months), 10 patients were disease-free, 3 patients died of the tumor, 1 died of side effects of leukemia chemotherapy, and 1 survived with disease. Conclusion: The incidence rate of Swyer syndrome in patients with MGCT-NDG is about 4.9%; timely diagnosis and bilateral gonadectomy should be emphasized to reduce the risk of reoperation and second carcinogenesis in this population.
Female ; Humans ; Retrospective Studies ; Gonadal Dysgenesis, 46,XY/surgery* ; Gonadoblastoma/surgery* ; Neoplasms, Germ Cell and Embryonal/surgery* ; Ovarian Neoplasms/pathology*

Although melanoma only accounts for 1% of skin cancers, it is responsible for most skin cancer deaths. Glioblastoma multiforme, a high-grade astrocytoma, is the most aggressive and devastating primary brain tumor. These two diseases remain to be the biggest therapeutic challenge in both specialties of dermatology and neuro-oncology. A 53-year-old Filipino male who presented with a 2-year history of generalized dark brown and black patches on the body developed weakness and numbness of the left extremities. Biopsy and immunohistochemical staining of the skin revealed nodular melanoma with adjacent regressing melanoma. Biopsy of the intracranial mass showed glioblastoma multiforme. One month after the partial excision of the intracranial mass, the patient expired due to brain herniation. Nodular melanoma and glioblastoma multiforme may occur concomitantly in a patient. A review of the literature suggests a shared genetic predisposition. Its existence carries a poor prognosis and requires early detection to start aggressive treatment.
Melanoma ; Glioma ; Glioblastoma ; Association

Background and Objective: Meningiomas represent the most prevalent benign intracranial tumors, comprising 13- 26% of primary intracranial neoplasms. These tumors derive their blood supply from both extracranial and intracranial circulation. Over recent decades, pre-operative embolization (POE) has emerged as a potential adjunctive therapy to surgery, aiming to reduce tumor vascularity. Our study seeks to explore the potential correlation between the extent of devascularization following POE of meningiomas and intraoperative blood loss. Methods: This cross-sectional study involved nine meningioma patients at a tertiary hospital, involving chart review of patients across four years. These patients were referred for POE due to angiographic evidence of a hypervascular mass between January 2018 and January 2022. We collected demographic data, tumor characteristics (including location, size, and vascular supply), and intraoperative variables such as total operative time and blood loss. Statistical analyses aimed to uncover correlations between vascularization degree and various factors. Results: Our population consists predominantly of females (53.68%), with a mean age of 45.85 ± 13.65 years. Only one mortality was recorded (7.7%). Pre-operative embolization achieved devascularization in the majority (69.2%) of cases, with approximately two-thirds (66.7%) experiencing complete devascularization. Mean total operative time stood at 336.11 ± 301.88 minutes, with a mean post-operative blood loss of 985.56 ± 1013.72 milliliters. Additionally, for those with recorded recovery times, the mean recovery time was 14.32 ± 13.51 hours. : Mortality rates showed no association with sex, devascularization status, or number of feeding vessel zones. Furthermore, the extent of devascularization did not correlate with age, sex, number of feeding vessel zones, postoperative blood loss, total operative time, or recovery time (p >0.05). Conclusion In summary, this study represents a significant endeavor to elucidate factors influencing meningioma outcomes following pre-operative embolization. Despite limitations regarding patient numbers, our study offers valuable insights into operative parameters and embolization considerations for future analyses in our tertiary center.
Meningioma ; Radiology, Interventional

Glioblastoma multiforme (GBM) represents the most malignant form of brain tumor and is relatively common, comprising nearly almost 20% of all primary malignancies of the central nervous system1. GBM is a WHO grade IV tumor with several variants, depending primarily on their genetic signature and on the predominant histological architecture. Among the variants of GBM, epithelioid glioblastoma (E-GBM) has been one of the more recently described. This tumor, documented to be highly malignant and clinically aggressive, has been separated from close variants and thus differentials, pleomorphic anaplastic xanthoastrocytoma, rhabdoid GBM, small cell and giant cell GBM, GBM with neuroectodermal differentiation, and gliosarcoma2. Autoimmune diseases have been linked within creased risk of CNS complications, from the constant effects of chronic inflammatory milieu. Systemic lupus erythematosus (SLE) has been associated with several CNS abnormalities, hence the terms CNS lupus or neuropsychiatric lupus. Likewise, SLE has been repeatedly associated with CNS malignancies in several cases and case reports. To date, there is paucity in the reported cases of malignant brain tumors, especially rare variants, in patients with SLE. While it is hypothesized that the inflammatory milieu that bathes the brain in a dynamic microenvironment that influences the incidence of rare variants of GBM, clinicians should be mindful, as treatment is challenging: it may either induce exacerbation of autoimmunity or cause undertreatment of the malignancy. This complex interplay births curiosity into the enigma of autoimmunity and oncology. In this particular report, we highlight the case of a patient with SLE who developed E-GBM. We identify the clinicopathologic features of the tumor present in the patient and explore the known aspects of the crosstalk between SLE and E-GBM.
Lupus Erythematosus, Systemic ; Glioblastoma

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. CONCLUSION Gene therapy, including both the transgenic therapy and gene editing, is expected to become an important new therapeutic approach for NF1 patients.
Humans ; Neurofibromatosis 1/pathology* ; Neurofibromin 1/metabolism* ; GTPase-Activating Proteins ; Mutation ; Genetic Predisposition to Disease ; Genetic Therapy

Humans ; Meningioma/surgery* ; Tomography, X-Ray Computed ; Meningeal Neoplasms/surgery*