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Background: Schwannoma and neurofibroma constitute benign peripheral nerve sheath tumors (BPNSTs), which may present as single or multiple lesions. Multiple schwannomas are rare in the peripheral nerves of the upper extremity. Solitary small schwannoma is usually asymptomatic, while larger and multiple schwannomas may have different symptoms due to pressure effects. Median and ulnar nerve communications are often encountered in the upper limb, making these anastomoses clinically important. However, such communications with schwannomas in the axilla are rare. Case Report: The study protocol was designed per the prevailing guidelines of the Institute on the use of human cadavers for teaching and research. Written informed consent was obtained from the family of the body donor at the time of whole-body donation. The upper extremities, including the brachial plexuses of both sides, were carefully dissected as per the instructions in Cunningham’s Manual of Practical Anatomy15th edition. Discussion: Unusual anastomoses in the axilla and two encapsulated, highly vascular fusiform masses were observed. Another fairly large mass was noted on the right chest wall. Histological examination confirmed the masses to be schwannomas. Conclusion: Asymptomatic schwannomas often remain undiagnosed, and those lying in the axilla can be misdiagnosed. Awareness of such variant anatomy will enable clinicians and surgeons to plan more appropriate diagnostic and therapeutic interventions. [ABSTRACT FROM AUTHOR]

Third ventriculostomy is the preferred treatment for obstructive hydrocephalus, but the biomechanics of brain tissue damage caused by fiber endoscopes remains unclear. In this study, brain tissue material parameters were tested based on the Ogden model to simulate needle puncture mechanics, and replicated the entire fiber endoscope advancement process during third ventriculostomy. It was found that a smaller diameter fiber endoscope, a perpendicular puncture angle, and a faster puncture speed would decrease the damage of brain tissue caused by the fiber endoscope. This study provides valuable insights for optimizing the instrumentation and surgical process of third ventriculostomy. [ABSTRACT FROM AUTHOR]

Objective: Craniopharyngiomas (CPG) have complex treatment challenges due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. The aim of this study was to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a nationwide cohort of pediatric CPG patients. A further aim was to highlight the difficulties associated with CPG management. Methods: Sixteen centers entered CPG patients into the ÇEDD NET data system. The clinical and laboratory characteristics at presentation, administered treatments, accompanying endocrine, metabolic, and other system involvements, and the patient's follow-up features were evaluated. Results: Of the 152 evaluated patients, 64 (42.1%) were female. At presentation, the mean age was 9.1±3.67, ranging from 1.46 to 16.92, years. The most common complaints at presentation were headache (68.4%), vision problems (42%), short stature (15%), and nausea and vomiting (7%). The surgical procedures were gross total resection (GTR) in 97 (63.8%) and subtotal resection in 55 (36.2%). Radiotherapy (RT) was initiated in 11.8% of the patients. Histopathological examination reported 92% were adamantinamatous type and 8% were papillary type. Postoperatively, hormone abnormalities consisted of thyroid-stimulating hormone (92.1%), adrenocorticotropic hormone (81%), antidiuretic hormone (79%), growth hormone (65.1%), and gonadotropin (43.4%) deficiencies. Recombinant growth hormone treatment (rhGH) was initiated in 27 (17.8%). The study showed hesitancy among physicians regarding rhGH. The median survival without relapse was 2.2 years. Median (range) time of relapse was 1.82 (0.13-10.35) years. Relapse was related to longer followups and reduced GTR rates. The median follow-up time was 3.13 years. Among the last follow-up visits, the prevalence of obesity was 38%, but of these, 46.5% were already obese at diagnosis. However, 20% who were not obese at baseline became obese on follow-up. Permanent visual impairment was observed in 26 (17.1%), neurological deficits in 13 (8.5%) and diabetes mellitus in 5 (3.3%) patients. Conclusion: Recurrence was predominantly due to incomplete resection and the low rate of postoperative RT. Challenges emerged for multidisciplinary regular follow ups. It is suggested that early interventions, such as dietary restrictions and increased exercise to prevent obesity, be implemented. [ABSTRACT FROM AUTHOR]

Objectives New diagnostic criteria for NF2- related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an emphasis on the rate of de novo NF2 (a 50% frequency is widely quoted in genetic counselling). The distribution of variant types among de novo and familial NF2 cases was also assessed. Methods The UK National NF2 database identifies patients meeting updated NF2 criteria from a highly ascertained population cared for by England's specialised service. Diagnostic prevalence was assessed on 1 February 2023. Molecular analysis of blood and, where possible, tumour specimens for NF2, LZTR1 and SMARCB1 was performed. Results 1084 living NF2 patients were identified on prevalence day (equivalent to 1 in 61 332). The proportion with NF2 inherited from an affected parent was only 23% in England. If people without a confirmed molecular diagnosis or bilateral vestibular schwannoma are excluded, the frequency of de novo NF2 remains high (72%). Of the identified de novo cases, almost half were mosaic. The most common variant type was nonsense variants, accounting for 173/697 (24.8%) of people with an established variant, but only 18/235 (7.7%) with an inherited NF2 pathogenic variant (p<0.0001). Missense variants had the highest proportion of familial association (56%). The prevalence of LZTR1- related schwannomatosis and SMARCB1- related schwannomatosis was 1 in 527 000 and 1 in 1.1M, respectively, 8.4--18.4 times lower than NF2. Conclusions This work confirms a much higher rate of de novo NF2 than previously reported and highlights the benefits of maintaining patient databases for accurate counselling [ABSTRACT FROM AUTHOR]

Microglia and monocytes play a critical role in immune responses to cerebral ischemia. Previous studies have demonstrated that interferon regulatory factor 4 (IRF4) and IRF5 direct microglial polarization after stroke and impact outcomes. However, IRF4/5 are expressed by both microglia and monocytes, and it is not clear if it is the microglial (central) or monocytic (peripheral) IRF4-IRF5 regulatory axis that functions in stroke. In this work, young (8–12 weeks) male pep boy (PB), IRF4 or IRF5 flox, and IRF4 or IRF5 conditional knockout (CKO) mice were used to generate 8 types of bone marrow chimeras, to differentiate the role of central (PB-to-IRF CKO) vs. peripheral (IRF CKO-to-PB) phagocytic IRF4-IRF5 axis in stroke. Chimeras generated from PB and flox mice were used as controls. All chimeras were subjected to 60-min middle cerebral artery occlusion (MCAO) model. Three days after the stroke, outcomes and inflammatory responses were analyzed. We found that PB-to-IRF4 CKO chimeras had more robust microglial pro-inflammatory responses than IRF4 CKO-to-PB chimeras, while ameliorated microglial response was seen in PB-to-IRF5 CKO vs. IRF5 CKO-to-PB chimeras. PB-to-IRF4 or IRF5 CKO chimeras had worse or better stroke outcomes respectively than their controls, whereas IRF4 or 5 CKO-to-PB chimeras had similar outcomes compared to controls. We conclude that the central IRF4/5 signaling is responsible for microglial activation and mediates stroke outcomes. [ABSTRACT FROM AUTHOR]

Purpose: Choroid plexus tumors (CPT) are relatively rare CNS tumors that primarily occur in children. They are classified as low-grade choroid plexus papilloma, including atypical ones, and high-grade choroid plexus carcinoma based on histological characteristics. There has been extensive academic research regarding these complex tumors. The goal of this work was to identify the 100 most-cited articles pertaining to CPTs in order to better understand the most impactful studies to date. Methods: In August 2023, Elsevier's Scopus database was searched for the 100 most-cited articles about CPT. To look for trends, articles were classified as either basic science or clinical, and the earliest 50 articles were separated from the latest 50 articles and then were compared. Various bibliometric parameters were summarized and compared using Pearson's chi-square exact test and Wilcoxon rank sum test/Mann–Whitney U test. Results: The 100 most-cited articles were published between 1955 and 2016 in 53 different scientific journals, originating from 16 distinct countries. Over 75% of the articles were clinical in nature, and overall mean (range) values were as follows: citation count 78.5 (42–371), citation rate per year 3.4 (0.9–12), number of authors 6.2 (1–28). Newer articles had statistically higher citation rate (P < 0.01) and number of authors (P < 0.01) compared to their older counterparts. Additionally, while there was no significant difference in article focus (P = 0.64), there was a difference in study design (P < 0.01). Conclusion: This study used citation number as a surrogate for article impact and identified the 100 most-cited CPT articles. New mutational analyses have allowed for further subgrouping and positive trends in collaboration shine hope for improvement in treatment outcomes and long-term survival. [ABSTRACT FROM AUTHOR]

The tumor tissue of craniopharyngioma is closely adherent to peripheral neurovascular tissue, so the operation to remove lesion is more difficult, the perioperative complications are very serious, and the prognosis of patients is poor. There are many studies on the use of tumor histology or anatomical classification to guide surgical principles and surgical approaches, as well as drug therapy or combination therapy, but no consensus has been reached. This paper reviews the histological, anatomical and molecular typing of craniopharyngioma, providing new ideas for the future realization of the fusion typing of craniopharyngioma to guide the precise treatment. [ABSTRACT FROM AUTHOR]

Purpose: Surgical resection of pineal region tumors is challenging because of close proximity to the vein of Galen draining system and the quadrigeminal plate. Surgical resection usually is performed through the narrow corridor by piecemeal resection and en bloc resection is difficult in cases of large tumors. Moreover, in cases of hypervascular tumors, surgical resection through the narrow corridor could entail massive intraoperative bleeding. The effectiveness of neoadjuvant chemotherapy and second-look surgery for pineal region tumors for maximal safe resection was evaluated. Methods: Retrospective institutional review of pediatric patients with pineal region tumors who underwent second look surgery after neoadjuvant chemotherapy was performed. Results: Nine patients underwent surgical resection after neoadjuvant chemotherapy over the period of September 2017 to February 2022. The mean age was 7.7 years (ranged from 1.4 to 15.3 years). Three patients underwent partial resection via open craniotomy, and 6 underwent endoscopic biopsy as an initial surgery. The histopathological diagnoses were germ cell tumors in 5 patients (yolk sac tumors in 2, germinoma in 2, choriocarcinoma in 1), /rhabdoid tumor (AT/RT) in 2, medulloblastoma in 1, and high-grade glioneuronal tumor in 1. After several courses of chemotherapy, the second-look surgery was performed. The tumor volume was reduced in 8 patients (89%) after chemotherapy except for 1 case of growing teratoma syndrome. The tumor was extended laterally to the ambient cistern in 2 patients, and posteriorly to the tentorial surface of the cerebellum in 3 patients. The lesion was approached through occipital transtentorial approach in 8 patients and infratentorial supracerebellar approach in 1. Intraoperatively, the high vascularity of the tumor was not observed in all cases. Gross total resection (8 patients, 89%) or near total resection (1, 11%) was achieved in all cases. No complications were observed postoperatively in all cases. Eight patients subsequently underwent additional chemo-radiation therapy according to the initial diagnosis. All patients are alive with no evidence of recurrence with a mean follow-up of 33 months. Conclusions: Neoadjuvant chemotherapy and second-look surgery for pediatric pineal region tumors was considered to be effective in reducing the tumor volume and vascularity, which facilitates the safe maximal tumor resection. [ABSTRACT FROM AUTHOR]

Background: Craniopharyngioma is a common intracranial tumor located in the sellar-suprasellar region. Due to the involvement of adjacent structures, it can lead to increased intracranial pressure, visual impairment, and endocrine deficiencies. Surgical resection is the primary treatment, but it is a tough challenge to achieve total resection, which will led to the frequency of recurrences and progressions. Among them, distant spread is extremely rare, but important complication, identifying and providing proper therapy, is crucial. Methods: We report two cases of ectopic recurrence craniopharyngioma and make a literature review for the published similar case reports. Results: Our literature review revealed 63 cases (including our patient). The onset age in children group and adult group ranges from 2–14 years old (6.70 ± 3.33) to 17–73 years old (40.63 ± 15.58), while the interval year between tumor initiation and ectopic recurrence ranges from 0.17–20 (7.28 ± 6.76) years to 0.3–34 (6.85 ± 7.29). Achieving gross total resection seems not to prevent the ectopic recurrence. The major pathology of ectopic recurrence craniopharyngioma is adamantinomatous type. The most common site of ectopic recurrence is frontal lobe. According to the pathogenesis, 35 cases were seeding along the surgical approach, and 28 cases were seeding via the CSF pathway. Conclusion: Ectopic recurrence craniopharyngioma is rare, but it can lead to serious symptoms. Delicate surgical procedure can help to reduce the risk of ectopic recurrence, and standardized follow-up can provide valuable information for treatment. [ABSTRACT FROM AUTHOR]

Background Vascular dysfunction is a significant contributor to the pathophysiology of psoriasis. Some individuals have variation within the gene for vascular endothelial growth factor-A (VEGF-A), which confers an increased risk of developing psoriasis and having a severe disease phenotype, and may determine responsiveness to treatment. Aim To determine whether patients with psoriasis have alterations in cutaneous microvascular anatomy and physiology due to expression of VEGF and whether laser Doppler imaging has utility in the assessment of this. Methods Twelve adult volunteers with Type 1 chronic plaque psoriasis underwent laser Doppler imaging of plaque and uninvolved skin. Skin biopsies were taken from the areas imaged for immunohistochemistry, including blood and lymphatic vessel markers, and VEGF-A isotype analysis (VEGF-A121, VEGF-A165 and VEGF-D). Venous blood was collected for DNA extraction, VEGF-A genotyping and peripheral blood mononuclear cell culture. Results Mean blood vessel area (P < 0·01), number of blood vessels (P < 0·001), number of lymphatic vessels (P < 0·001) and blood flow (P < 0·001) was significantly increased in psoriasis plaques, as was expression of VEGF-A121 (P < 0·01), VEGF-A165 (P < 0·04) and VEGF-D (P < 0·01). Blood flow within psoriasis plaques was independent of their increased vascularity (P < 0·01) and may be associated with baseline productivity of VEGF. The number of blood vessels within uninvolved skin in patients with psoriasis was associated with the VEGF-A (rs833061) genotype (P = 0·01), in a relationship suggesting an allele dosing effect. Conclusion Noninvasive imaging of blood flow may help determine the cutaneous vascular signature for individual patients. This may be a useful prognostic indicator of psoriasis susceptibility and severity, and thus support selection of treatments. [ABSTRACT FROM AUTHOR]

Background: Sporadic multiple meningioma are uncommon. Population-based data suggests that these patients have a reduced overall survival when compared to patients with solitary meningioma. The aim of this study was to investigate the clinical outcomes in multiple and solitary meningioma. Methods: A single-center matched cohort study (2008–2018) was performed. Patients with synchronous multiple meningioma at presentation, with no history of prior intracranial radiation, concurrent hormone replacement therapy or features of NF2-schwannomatosis were included. Eligible patients were matched 1:1 to patients with solitary meningioma. Outcomes of interest were occurrence of an intervention, recurrence, new meningioma development and mortality. Results: Thirty-four patients harboring 76 meningioma at presentation were included. Mean age was 59.3 years (SD = 13.5). Thirty-one (91.2%) were female. The median number of meningioma per patient was 2 (range 2–6). Eighteen patients (52.9%) were symptomatic at presentation. Median overall follow-up was 80.6 months (IQR 44.1–99.6). Compared to patients with a sporadic meningioma, there was no difference in intervention rates (67.6% vs 70.6%, P = 0.792). Eight patients (34.8%) with a multiple meningioma had a WHO grade 2 meningioma compared to 7 (29.2%) with a solitary meningioma (P = 0.679). Median recurrence-free survival was 89 months (95% CI 76–104) with no difference between the two groups (P = 0.209). Mean overall survival was 132 months (95% CI 127–138) with no difference between the two groups (P = 0.860). One patient with multiple meningioma developed two further new meningioma 36 months following diagnosis. Conclusion: Sporadic multiple meningioma may not have worse clinical outcomes. Management of patients with sporadic multiple meningioma should be tailored towards the symptomatic meningioma or high-risk asymptomatic meningioma. [ABSTRACT FROM AUTHOR]

The physiology and pathology of the skin are influenced by daily oscillations driven by a master clock located in the brain, and peripheral clocks in individual cells. The pathogenesis of psoriasis is circadian‐rhythmic, with flares of disease and symptoms such as itch typically being worse in the evening/night‐time. Patients with psoriasis have changes in circadian oscillations of blood pressure and heart rate, supporting wider circadian disruption. In addition, shift work, a circadian misalignment challenge, is associated with psoriasis. These features may be due to underlying circadian control of key effector elements known to be relevant in psoriasis such as cell cycle, proliferation, apoptosis and inflammation. Indeed, peripheral clock pathology may lead to hyperproliferation of keratinocytes in the basal layers, insufficient apoptosis of differentiating keratinocytes in psoriatic epidermis, dysregulation of skin‐resident and migratory immune cells and modulation of angiogenesis through circadian oscillation of vascular endothelial growth factor A (VEGF‐A) in epidermal keratinocytes. Chronotherapeutic effects of topical steroids and topical vitamin D analogues have been reported, suggesting that knowledge of circadian phase may improve the efficacy, and therapeutic index of treatments for psoriasis. In this viewpoint essay, we review the current literature on circadian disruption in psoriasis. We explore the hypothesis that psoriasis is circadian‐driven. We also suggest that investigation of the circadian components specific to psoriasis and that the in vitro investigation of circadian regulation of psoriasis will contribute to the development of a novel chronotherapeutic treatment strategy for personalised psoriasis management. We also propose that circadian oscillations of VEGF‐A offer an opportunity to enhance the efficacy and tolerability of a novel anti‐VEGF‐A therapeutic approach, through the timed delivery of anti‐VEGF‐A drugs. [ABSTRACT FROM AUTHOR]

Background Little is known about risks associated with germline SUFU pathogenic variants (PVs) known as a cancer predisposition syndrome. Methods To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients. To reduce the ascertainment bias due to index patient selection, the risk of tumours was evaluated in relatives with SUFU PV (89 patients) using the Nelson-Aalen estimator. Results Overall, 117/172 (68%) SUFU PV carriers developed at least one tumour: medulloblastoma (MB) (86 patients), basal cell carcinoma (BCC) (25 patients), meningioma (20 patients) and gonadal tumours (11 patients). Thirty-three of them (28%) had multiple tumours. Median age at diagnosis of MB, gonadal tumour, first BCC and first meningioma were 1.5, 14, 40 and 44 years, respectively. Follow-up data were available for 160 patients (137 remained alive and 23 died). The cumulative incidence of tumours in relatives was 14.4% (95% CI 6.8 to 21.4), 18.2% (95% CI 9.7 to 25.9) and 44.1% (95% CI 29.7 to 55.5) at the age of 5, 20 and 50 years, respectively. The cumulative risk of an MB, gonadal tumour, BCC and meningioma at age 50 years was: 13.3% (95% CI 6 to 20.1), 4.6% (95% CI 0 to 9.7), 28.5% (95% CI 13.4 to 40.9) and 5.2% (95% CI 0 to 12), respectively. Sixty-four different PVs were reported across the entire SUFU gene and inherited in 73% of cases in which inheritance could be evaluated. Conclusion Germline SUFU PV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes. [ABSTRACT FROM AUTHOR]

Objective: Papillary craniopharyngiomas (PCPs) represent a rare histological type of craniopharyngiomas (CPs) usually involving the hypothalamus. This study systematically analyzes the clinical-anatomical correlation between tumor topography and symptoms related to hypothalamic dysfunction in the largest series of PCPs ever gathered. Methods: From 5,346 CP reports published from 1856 to 2021, we selected 350 well-described cases of the squamous-papillary type. Clinical presentation, tumor topography, severity of hypothalamic adhesion, patient outcome, and tumor recurrence were thoroughly analyzed. Results: PCPs predominantly occur in adult (96.3%), male (61.7%) patients presenting with headache (63.4%), visual alterations (56.2%), and psychiatric disturbances (50.4%). Most PCPs are solid (50%), round (72%) lesions that occupy the third ventricle (3V, 94.8%) and show low-risk severity adhesions to the hypothalamus (66.8%). Two major topographical categories can be found: strictly 3V (57.5%), growing above an intact 3V floor, and not-strictly or infundibulo-tuberal (32.9%), expanding at the infundibulum and/or tuber cinereum. The hypothalamic syndrome predominated among strictly 3V PCPs (p < 0.001). Psychiatric symptoms (p < 0.001) and high-risk hypothalamic attachments (p = 0.031) related to unfavorable postoperative outcomes among patients treated from 2006 onwards. The not-strictly 3V topography was identified as the major predictor of high-risk hypothalamic attachments (71.2% correctly predicted), which, along with incomplete tumor removal (p = 0.018), underlies the higher tumor recurrence of this topography (p = 0.001). Conclusions: This systematic review evidences that PCP topography is a major determinant of hypothalamic-related symptoms, type of hypothalamic attachments, and tumor recurrence rate. Accurate preoperative definition of PCP-hypothalamus relationships is essential for the judicious, safe management of these complex lesions. [ABSTRACT FROM AUTHOR]

Today, it seems prudent to reconsider how ultrasound technology can be used for providing intraoperative neurophysiologic monitoring that will result in better patient outcomes and decreased length and cost of hospitalization. An extensive and rapidly growing literature suggests that the essential hemodynamic information provided by transcranial Doppler (TCD) ultrasonography neuromonitoring (TCDNM) would provide effective monitoring modality for improving outcomes after different types of vascular, neurosurgical, orthopedic, cardiovascular, and cardiothoracic surgeries and some endovascular interventional or diagnostic procedures, like cardiac catheterization or cerebral angiography. Understanding, avoiding, and preventing peri‐ or postoperative complications, including neurological deficits following abovementioned surgeries, endovascular intervention, or diagnostic procedures, represents an area of great public and economic benefit for society, especially considering the aging population. The American Society of Neurophysiologic Monitoring and American Society of Neuroimaging Guidelines Committees formed a joint task force and developed updated guidelines to assist in the use of TCDNM in the surgical and intensive care settings. Specifically, these guidelines define (1) the objectives of TCD monitoring; (2) the responsibilities and behaviors of the neurosonographer during monitoring; (3) instrumentation and acquisition parameters; (4) safety considerations; (5) contemporary rationale for TCDNM; (6) TCDNM perspectives; and (7) major recommendations. [ABSTRACT FROM AUTHOR]

Background: Various complications of endoscopic third ventriculostomy (ETV) have been described. One has to recognize these complications and learn how to avoid them. Methods: We performed a literature review regarding the reported complications of ETV procedures discussed in a correlated manner with the surgical steps. Furthermore, we reviewed the technical notes described by experienced neuroendoscopists, including surgical indications, choice of the endoscopic entry point and trajectory, anatomic orientation, proper bleeding control and tight closure, to prevent and deal with such complications. Results and conclusion: A lesson learned that comprehensive knowledge of ventricular anatomy with proper orientation by studying the preoperative images is mandatory and one should be aware of all complication types and rates. [ABSTRACT FROM AUTHOR]

Biallelic inactivation of NF2 represents the primary or sole oncogenic driver event in the vast majority of schwannomas. We report on a four-year-old female who underwent subtotal resection of a right medullary intraparenchymal schwannoma. RNA sequencing revealed an in-frame fusion between exon 5 of YAP1 and exon 2 of MAML2. YAP1-MAML2 fusions have previously been reported in a variety of tumor types, but not schwannomas. Our report expands the spectrum of oncogenic YAP1 gene fusions an alternative to NF2 inactivation to include sporadic schwannoma, analogous to what has recently been described in NF2-wildtype pediatric meningiomas. Appropriate somatic and germline molecular testing should be undertaken in all young patients with solitary schwannoma and meningioma given the high prevalence of an underlying tumor predisposition syndrome. In such patients, the identification of a somatic non-NF2 driver alteration such as this newly described YAP1 fusion, can help ascertain the diagnosis of a sporadic schwannoma. [ABSTRACT FROM AUTHOR]

Background: Surgical and clinical management of craniopharyngiomas is associated with high long-term morbidity especially in the case of hypothalamic involvement. Improvements in knowledge of craniopharyngioma molecular biology may offer the possibility of safe and effective medical neoadjuvant treatments in a subset of patients harboring papillary subtype tumors with a BRAFV600E mutation. Method: We report herein two cases of tubero-infundibular and ventricular Papillary Craniopharyngiomas in which BRAF/MEK inhibitor combined therapy was used as adjuvant (Case 1) or neoadjuvant (Case 2) treatment, with a 90% reduction in tumor volume observed after only 5 months. In Case 2 the only surgical procedure used was a minimal invasive biopsy by the trans-ventricular neuroendoscopic approach. As a consequence, targeted therapy was administered in purely neoadjuvant fashion. After shrinkage of the tumor, both patients underwent fractionated radiotherapy on the small tumor remnant to achieve long-term tumor control. A review of a previously reported case has also been performed. Result: This approach led to tumor control with minimal long-term morbidity in both cases. No side effects or complications were reported after medical treatment and adjuvant radiotherapy. Conclusion: Our experience and a review of the literature argue for a change in the current treatment paradigm for Craniopharyngiomas (CPs). In giant and invasive tumors, confirmation of BRAFV600E mutated PCPs by biopsy and BRAF/MEK inhibitor therapy before proposing other treatments may be useful to improve long term outcomes for patients. [ABSTRACT FROM AUTHOR]

Craniopharyngioma (CP) is an intracranial benign tumor that behaves aggressively due to its location, infiltration of the surrounding nervous tissue and high capacity for recurrence. Treatment of choice is surgery followed or not by radiotherapy. Recent advances in molecular biology techniques and the better understanding of the genetic alterations of the two histological types of CP have open new therapeutic perspectives with targeted drugs. Adamantinomatous CP (ACP) is associated with activating mutations of the CTNNB1 gene. Such mutations are accompanied by intracellular accumulation of β-catenin, an oncogenic protein that activates the intracellular Wnt/ β-catenin signaling pathway, which regulates the transcription of genes involved in cell proliferation. Therefore, the use of molecular therapies directed against the activation of the Wnt/ β-catenin pathway could be an attractive and promising therapeutic option in the management of ACPs. On the other hand, papillary CP (PCP) is associated with activating mutations in the BRAF gene. This gene encodes a BRAF protein that plays an important role in the intracellular mitogen-activated protein kinase (MAPK) signaling pathway, which also regulates cell proliferation. The use of BRAF inhibitors either in monotherapy or in combination with mitogen-activated protein kinase (MEK) inhibitors has demonstrated therapeutic efficacy in isolated clinical cases of relapsed PCPs. A preliminary report of a recent phase II clinical trial has shown a therapeutic response in 93.7% of patients with BRAFV600E -mutated PCP, with an 85% reduction in tumor size. In the present review we comment on the efficacy and safety of the different drugs being used in patients with PCP. [ABSTRACT FROM AUTHOR]

Purpose: Diffuse Brainstem Glioma (DBG) is a catastrophic brain tumor with a survival rate of less than 10% two years after diagnosis despite the existence of different treatment protocols. Among the devices that use magnetic fields generated by Magnetic Resonance Imaging is Quantum Magnetic Resonance Therapy (QMRT). Methods: Five children diagnosed with DBG in our institution in Mexico City underwent treatment of compassionate use with QMRT between December 2018 and July 2019. A survival analysis was performed with previously reported historical data (n = 15). Results: Two patients (40%) survived after three years of follow-up; the log-rank test showed a statistically significant difference in overall survival between both groups (p = 0.032). All patients tolerated the treatment adequately without reporting any severe clinical or neuroradiological adverse effects. Of the patients included, all showed a decrease in the tumor one month after the end of the treatment, although there was great variability in the response and the difference was not statistically significant (p = 0.06). Conclusions: Although future investigations are needed to confirm the findings reported in the present study, the improvement in survival is promising for a group of patients whose prognosis has been catastrophic over the years. Trial registration NCT03577600. [ABSTRACT FROM AUTHOR]

Context: Nationwide data on children diagnosed with craniopharyngioma (CP) are not available in Italy. Objective: This work aimed to identify patients' characteristics, type of surgical approach, complications and recurrences, number of pituitary deficits, and number of patients starting growth hormone (GH) treatment. Methods: A retrospective multicenter collection took place of 145 patients aged 0 to 18 years who underwent surgery for CP between 2000 and 2018, and followed up in 17 Italian centers of pediatric endocrinology. Results: Age at diagnosis was 8.4 ± 4.1 years. Duration of symptoms was 10.8 ± 12.5 months and headache was most frequent (54%), followed by impaired growth (48%) and visual disturbances (44%). Most lesions were suprasellar (85%), and histology was adamantinomatous in all cases but two. Surgical approach was transcranial (TC) in 67.5% of cases and transsphenoidal (TS) in 31.%. The TC approach was prevalent in all age groups. Postsurgery complications occurred in 53% of cases, with water-electrolyte disturbances most frequent. Radiotherapy was used in 39% of cases. All patients but one presented with at least one hormone pituitary deficiency, with thyrotropin deficiency most frequent (98.3%), followed by adrenocorticotropin (96.8%), arginine vasopressin (91.1%), and GH (77.4%). Body mass index (BMI) significantly increased over time. A hypothalamic disturbance was present in 55% of cases. GH therapy was started during follow-up in 112 patients at a mean age of 10.6 years, and 54 developed a recurrence or regrowth of the residual lesion. Conclusion: CP is often diagnosed late in Italy, with TC more frequent than the TS surgical approach. Postsurgery complications were not rare, and hypopituitarism developed almost in all cases. BMI shows a tendency to increase overtime. [ABSTRACT FROM AUTHOR]

Introduction: Standards for chemotherapy against choroid plexus tumors (CPT) have not yet been established. Methods: CPT-SIOP-2000 (NCT00500890) was an international registry for all CPT nesting a chemotherapy randomization for high-risk CPT with Carboplatin/Etoposide/Vincristine (CarbEV) versus Cyclophosphamide/Etoposide/Vincristine (CycEV). Patients older than three years were recommended to receive irradiation: focal fields for non-metastatic CPC, incompletely resected atypical choroid plexus papilloma (APP) or metastatic choroid plexus papilloma (CPP); craniospinal fields for metastatic CPC/APP and non-responsive CPC. High risk was defined as choroid plexus carcinoma (CPC), incompletely resected APP, and all metastatic CPT. From 2000 until 2010, 158 CPT patients from 23 countries were enrolled. Results: For randomized CPC, the 5/10 year progression free survival (PFS) of patients on CarbEV (n = 20) were 62%/47%, respectively, compared to 27%/18%, on CycEV (n = 15), (intention-to-treat, HR 2.6, p = 0.032). Within the registry, histological grading was the most influential prognostic factor: for CPP (n = 55) the 5/10 year overall survival (OS) and the event free survival (EFS) probabilities were 100%/97% and 92%/92%, respectively; for APP (n = 49) 96%/96% and 76%/76%, respectively; and for CPC (n = 54) 65%/51% and 41%/39%, respectively. Without irradiation, 12 out of 33 patients with CPC younger than three years were alive for a median of 8.52 years. Extent of surgery and metastases were not independent prognosticators. Conclusions: Chemotherapy for Choroid Plexus Carcinoma is feasible and effective. CarbEV is superior to CycEV. A subset of CPC can be cured without irradiation. [ABSTRACT FROM AUTHOR]

Background: Endoscopic third ventriculostomy (ETV) has become a proven modality for treating obstructive and selected cases of communicating hydrocephalus.Objective: This review aims to summarize the indications, preoperative workup, surgical technique, results, postoperative care, complications, advantages, and limitations of an ETV.Materials and Methods: A thorough review of PubMed and Google Scholar was performed. This review is based on the relevant articles and authors' experience.Results: ETV is indicated in obstructive hydrocephalus and selected cases of communicating hydrocephalus. Studying preoperative imaging is critical, and a detailed assessment of interthalamic adhesions, the thickness of floor, arteries or membranes below the third ventricle floor, and prepontine cistern width is essential. Blunt perforation in a thin floor, while bipolar cautery at low settings and water jet dissection are preferred in a thick floor. The appearance of stoma pulsations and intraoperative ventriculostomography reassure stoma and basal cistern patency. The intraoperative decision for shunt, external ventricular drainage, or Ommaya reservoir can be taken. Magnetic resonance ventriculography and cine phase-contrast magnetic resonance imaging can determine stoma patency. Good postoperative care with repeated cerebrospinal fluid drainage enhances outcomes in selected cases. Though the complications mostly occur in an early postoperative phase, delayed lethal ones may happen. Watching live surgeries, assisting expert surgeons, and practicing on cadavers and models can shorten the learning curve.Conclusion: ETV is an excellent technique for managing obstructive and selected cases of communicating hydrocephalus. Good case selection, methodical technique, and proper training under experts are vital. [ABSTRACT FROM AUTHOR]

The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and the central nervous system (Atypical Teratoid Rhabdoid Tumors, ATRT). Both, RTPS1&2 are due to pathogenic variants (PV) in genes encoding constituents of the BAF chromatin remodeling complex, i.e. SMARCB1 (RTPS1) and SMARCA4 (RTPS2). In contrast to other genetic disorders related to PVs in SMARCB1 and SMARCA4 such as Coffin-Siris Syndrome, RTPS1&2 are characterized by a predominance of truncating PVs, terminating transcription thus explaining a specific cancer risk. The penetrance of RTPS1 early in life is high and associated with a poor survival. However, few unaffected carriers may be encountered. Beyond RT, the tumor spectrum may be larger than initially suspected, and cancer surveillance offered to unaffected carriers (siblings or parents) and long-term survivors of RT is still a matter of discussion. RTPS2 exposes female carriers to an ill-defined risk of small cell carcinoma of the ovaries, hypercalcemic type (SCCOHT), which may appear in prepubertal females. RT surveillance protocols for these rare families have not been established. To address unresolved issues in the care of individuals with RTPS and to propose appropriate surveillance guidelines in childhood, the SIOPe Host Genome working group invited pediatric oncologists and geneticists to contribute to an expert meeting. The current manuscript summarizes conclusions of the panel discussion, including consented statements as well as non-evidence-based proposals for validation in the future. [ABSTRACT FROM AUTHOR]

We present the application of the Raumedic® P-tel telemetric device that monitors Intracranial Pressure (ICP) over long periods, in 22 patients, with suspected intracranial hypertension. A telemetric device (Raumedic®, Neurovent® P-tel) was surgically implanted in 22 patients aged between 21 and 65 years. Among the patients, the inconclusive diagnosis of benign intracranial hypertension was set in 10, the possible diagnosis of postoperative hydrocephalus in 3, and the possible diagnosis of aqueduct stenosis in 2. Additionally, shunt malfunction and Normal Pressure Hydrocephalus (NPH) were investigated in 1 and 3 patients, respectively. Finally, 3 patients presented ventricular dilatation of unknown origin. All the individuals underwent a 3-day ICP recording within the nursing unit. Three more recordings were obtained over a period of 2–6 months at the outpatient base. Analysis of the data excluded the diagnosis of intracranial hypertension in 12 patients. Elevated ICP values were confirmed in 10 patients. Subsequently, 7 of them underwent shunts' implantation, while 2 refused further neurosurgical treatment and 1 was treated with acetazolamide. Additionally, 1 patient who demonstrated normal ICP values, thus confirmed with NPH, underwent VP shunt implantation, while another 2 with similar characteristics refused further surgery. In our series the overall clinical complication rate after P-tel implantation was insignificant. The telemetric device is safely implanted via a rather simple procedure. In selected patients, it could provide long-term ICP recordings, which are necessary to confirm diagnosis and guide to the appropriate treatment. [ABSTRACT FROM AUTHOR]

Introduction: Standardisation of imaging acquisition is essential in facilitating multicentre studies related to childhood CNS tumours. It is important to ensure that the imaging protocol can be adopted by centres with varying imaging capabilities without compromising image quality. Materials and method: An imaging protocol has been developed by the Brain Tumour Imaging Working Group of the European Society for Paediatric Oncology (SIOPE) based on consensus among its members, which consists of neuroradiologists, imaging scientists and paediatric neuro-oncologists. This protocol has been developed to facilitate SIOPE led studies and regularly reviewed by the imaging working group. Results: The protocol consists of essential MRI sequences with imaging parameters for 1.5 and 3 Tesla MRI scanners and a set of optional sequences that can be used in appropriate clinical settings. The protocol also provides guidelines for early post-operative imaging and surveillance imaging. The complementary use of multimodal advanced MRI including diffusion tensor imaging (DTI), MR spectroscopy and perfusion imaging is encouraged, and optional guidance is provided in this publication. Conclusion: The SIOPE brain tumour imaging protocol will enable consistent imaging across multiple centres involved in paediatric CNS tumour studies. [ABSTRACT FROM AUTHOR]

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Positional plagiocephaly is the most common cause of cranial asymmetry. Deformational brachycephaly denotes a head shape characterized by occipital flattening and increased bilateral width, which can also be caused by external deformation of the moldable infant cranium in positional bilateral posterior plagiocephaly. There are reports of craniosynostosis associated with Chiari I malformation (CIM), possibly caused by decreased posterior fossa volume and related to increased intracranial pressure. To the best of our knowledge, this is only the second case report demonstrating acquired CIM in a child with positional brachycephaly. Of note, the fact that the CIM resolved after helmet therapy could support the hypothesis that CIM is associated with decreased volume of the posterior fossa. However, these two conditions may be independent of one another. More research is needed to identify an association between the two conditions. [ABSTRACT FROM AUTHOR]

Objective To investigate the indication and significance of preoperative chemotherapy for pediatric patients with brain malignant tumors. Methods and Results The clinical data of 9 pediatric patients with brain malignant tumors who were admitted to Department of Neurosurgery, Tsinghua University Yuquan Hospital from January 2017 to August 2019 were retrospectively analyzed. The patients were 6 males and 3 females, aged from 1.50 months to 6 years. Among the 9 cases, 5 cases were located in the pineal region, one case in the third ventricle, one case in the frontotemporal and the basal ganglia region and 2 cases in the fourth ventricle. The preoperative clinical diagnosis of the 9 patients included 5 cases of germ cell tumor, 2 cases of medulloblastoma, one case of pineal blastoma and one case of embryonal tumor. Before the chemotherapy, 6 patients were treated with ventriculo - peritoneat shunt, 2 patients with ventricular puncture and external drainage, and one patient with endoscopic third ventriculostomy. Before surgery, 2 cases were given carboplatin + etoposide regimen, 4 cases were given cisplatin + etoposide regimen, one case was given carboplatin + etoposide + isophoramide regimen, and 2 cases were given cisplatin + etoposide + isophoramide regimen. 6 patients received one cycle of chemotherapy before tumor resection, 2 patients received 2 cycles and one patient received 3 cycles. All of the patients received tumor resection after 1-3 cycles of chemotherapy. The following treatments were depended on the pathological results. After preoperative chemotherapy, tumors' volume decreased in 7 cases while increased in one case. Additionally, there was one case of tumor apoplexy. The blood supply of tumors of all the 9 patients was not abundant. Among the 9 cases, total removal was achieved in 8 cases and subtotal in one case. The pathological results revealed 3 germ cell tumors, 2 pineoblastomas, 2 medulloblastomas, one diffuse midline glioma, and one atypical teratomoid/rhabdomyoid tumor (AT/RT). The 9 patients were followed up from 8 to 38 months (mean 18 months). Three patients died of tumor recurrence and there were no tumor recurrences in the other 6 patients. Conclusions Preoperative chemotherapy may be considered for children with brain malignant tumors which are clinically sensitive to chemotherapy at high risk of surgery. Preoperative chemotherapy for brain tumors in infants and young children was effective in reduction of tumor volume and vascularity, which significantly facilitated maximal tumor resection. [ABSTRACT FROM AUTHOR]

Introduction/background: Although central nervous system tumors are the most common etiology of malignancies in the pediatric age group, choroid plexus carcinomas are rare, with an annual incidence rate of 0.10 per 100,000 children.Case Presentation: We report the case of an adolescent male belonging to central India who had presented with a history of persistent headache, projectile vomiting, neck stiffness, and an episode of generalized tonic-clonic seizure. Neurological examination was suggestive of a space-occupying lesion. Further neuroimaging was suggestive of a large left-sided choroid plexus carcinoma, later confirmed on pathological examination. Gross total resection was achieved and followed by radiation therapy. His recovery was satisfactory without any major events despite suffering from such a malignancy with a poor prognosis.Conclusion: In the absence of a global consensus on choroid plexus carcinoma management, our patient underwent a successful gross total resection and received postoperative radiotherapy. He made a satisfactory recovery with a further plan to review with gadolinium-enhanced neuroimaging at a later date. We conclude that, when possible, achieving gross total resection is of utmost importance. [ABSTRACT FROM AUTHOR]

Background: The Miethke Sensor Reservoir sits within a ventriculoperitoneal shunt system to give a reading of the pressure within the shunt. This information can guide the management of hydrocephalus patients who present frequently with headaches. Methods: We reviewed a cohort of 12 patients who underwent implantation of a Sensor Reservoir to assess how the management of their symptoms changed over a 4-year period. Results: When comparing the group before the Sensor Reservoir and after the Sensor Reservoir insertion, there was a 75% reduction in number of CT head scans (P<0.05), 100% reduction in episodes of ICP monitoring (P<0.05), 55% reduction in number of X-ray shunt series, and a 50% reduction in acute presentation to hospital with shunt-related symptoms. The number of clinic attendances increased by 44%. In addition, cost analysis showed a saving of £6952 per patients over the 2-year period following Sensor Reservoir insertion as a result of reduced admissions and investigations. Complications were seen in 3 patients—two patients developed shunt-related infections, and 1 patient underwent shunt revision due to a proximal shunt obstruction. Seventy-five percent of patients showed an improvement in their symptoms at the end of the 4-year period. Conclusion: Implantation of a Sensor Reservoir in shunt patients with chronic headaches can reduce the number of investigations and hospital admissions and guide management resulting in a clinical improvement. [ABSTRACT FROM AUTHOR]

Background: Craniopharyngioma is benign neoplasm thought to be caused by mal-development, which occurs in both children and adults in the sellar and suprasellar regions of the brain. Typical manifestations in adults are visual and endocrine system symptoms followed by signs and symptoms of increased intracranial pressure (i.e., headache). The management of this rare condition is complex and requires life-long surveillance by a multidisciplinary team of health-care professionals. Objective: To present a rare clinical presentation of craniopharyngioma mimicking nonspecific neck pain usually associated with cervicogenic headache recognized by a physiotherapist in a direct access setting as a condition requiring medical referral. Case Presentation: This case report describes the history, examination findings, and clinical reasoning used in the initial examination of a 33-year-old female with neck pain and cervicogenic headache as chief complaints. Several key indicators in the patient presentation warranted further and urgent investigation: 1) the recent onset of a "new-type" headache; 2) the phenotype headaches change; 3) the rapid progression of the symptoms; 4) the presence of associated neurological signs and symptoms; and 5) the worsening of the symptoms during Valsalva-like activities. The decision was made to refer the patient for further evaluation. An MRI revealed a craniopharyngioma. After a surgical removal of the tumor mass, the patient participated in a rehabilitation program and reached a full recovery after 6 months. Conclusion: This case report highlights the need of more research regarding red flags and warning signs during examination of in the head-neck region, and the central role of primary care clinicians such as physiotherapists in differential diagnosis of life-threatening conditions. [ABSTRACT FROM AUTHOR]

The understanding of raised intracranial pressure (ICP) is increasing with the directed use of intracranial telemetric ICP monitors. This case uniquely observed ICP changes by telemetric monitoring in a patient with idiopathic intracranial hypertension (IIH), who developed rapid sight-threatening disease. A lumbar drain was inserted, as a temporising measure, and was clamped prior to surgery. This resulted in a rapid rise in ICP, which normalised after insertion of a ventriculoperitoneal shunt. This case highlighted the utility of the ICP monitor and the lumbar drain as a temporising measure to control ICP prior to a definitive procedure as recommended by the IIH consensus guidelines. [ABSTRACT FROM AUTHOR]

While schwannoma is one of the most common types of benign peripheral nerve tumors in adults, a very unique and specific variant of schwannoma, the intravascular variant, is exceedingly rare. There have only been three previously published cases of intravascular schwannomas. Here we describe a fourth case of an intravascular schwannoma in a 47‐year‐old man with an enlarging subcutaneous nodule on his posterior calf. This is the second case of an intravascular schwannoma contained within a vein. Also included is an overview of intravascular schwannomas, including a description and discussion of the histopathological diagnosis, differential diagnoses, and schwannoma variants. [ABSTRACT FROM AUTHOR]

Background: Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome characterized by the early-onset of multiple primary cancers which can occur at different moments (metachronous onset) or, more rarely, coincidentally (synchronous onset). Here we describe a previously unreported patient with presentation of synchronous Wilms tumor and Choroid plexus papilloma, leading to the diagnosis of a Li-Fraumeni Syndrome (LFS). Case presentation: A 6-year-old girl without previous complains presented with abdominal pain. Abdominal US and MRI showed a left renal tumor with subcapsular hematoma. Due to mild headaches, the diagnostic workup included a brain MRI that unexpectedly identified a large left parietal lobe tumor. Histopathological analysis determined the diagnosis of classic Wilms tumor and choroid-plexus papilloma (CPP), respectively. Both neoplasms showed intense nuclear p53 immunostaining associated with the pathogenic TP53 mutation c.844C > T (p.Arg282Trp). Our patient and her father shared the same heterozygous germline TP53 mutation, confirming the diagnosis of familiar Li-Fraumeni syndrome in the girl. The treatment was tailored to simultaneous tumor presentations. Conclusions: LFS has been associated with Choroid plexus carcinoma (CPC), but rarely with CPP as in our patient. That suggests that it may be advisable to consider the possibility of analyzing TP53 mutation, not only in all patients with CPC, but also in some patients with CPP, especially when histological or clinical evidences point out to perform this study. The dissimilar presentation of LFS among our patient's father, not having so far any neoplasia diagnosed, while her daughter presented precociously with two simultaneous different tumors, could be related to possible effects of modifier genes on the underlying mutant p53 genotype. [ABSTRACT FROM AUTHOR]

Background: Cerebrospinal fluid (CSF) analysis is a sensitive tool for evaluating patients with neurologic diseases but is rarely specific. Biomarkers can be measured from any bodily fluid and can be useful indicators for the presence, severity, and prognosis of diseases. Objectives: This study was designed to evaluate if CSF lactate can be used as a biomarker in dogs with central nervous system disease. Methods: Peripheral venous blood and CSF were collected from 49 dogs with various intracranial diseases to evaluate correlations between blood and CSF lactate levels. Total nucleated cell count (TNCC) and CSF protein concentrations were also evaluated. All samples obtained were divided into normal (NG) and abnormal (AG) dogs based on a TNCC of ≤5 and >5 cells/μL and a protein concentration of ≤25 and >25 mg/dL, respectively. The AG dogs were further subdivided into those having <100 TNCCs/µL (AGL) and those having >100 TNCCs/µL (AGH). They were also subdivided into groups based on seizure activity (AGS), and inflammatory (AGI), or neoplastic diseases (AGN), and the respective lactate concentrations were then compared. Results: Lactate concentrations were significantly increased in CSF and venous blood samples in the AG compared with the NG dogs, but no differences were found among the individual disease processes. In all dogs, CSF lactate concentrations were higher than venous blood lactate levels; however, no direct correlation between CSF and blood lactate concentrations was identified. Conclusions: Cerebrospinal fluid lactate can be used as a biomarker in clinical settings as it can be measured via a commercially available lactometer immediately after collection without the need for special instrumentation or laboratory personnel. [ABSTRACT FROM AUTHOR]

Purpose of Review: Over the last years, our understanding of the molecular biology of pediatric brain tumors has vastly improved. This has led to more narrowly defined subgroups of these tumors and has created new potential targets for molecularly driven therapies. This review presents an overview of the latest advances and challenges of implementing targeted therapies into the clinical management of pediatric brain tumors, with a focus on gliomas, craniopharyngiomas, and medulloblastomas. Recent Findings: Pediatric low-grade gliomas (pLGG) show generally a low mutational burden with the mitogen-activated protein kinase (MAPK) signaling presenting a key driver for these tumors. Direct inhibition of this pathway through BRAF and/or MEK inhibitors has proven to be a clinically relevant strategy. More recently, MEK and IL-6 receptor inhibitors have started to be evaluated in the treatment for craniopharyngiomas. Aside these low-grade tumors, pediatric high-grade gliomas (pHGG) and medulloblastomas exhibit substantially greater molecular heterogeneity with various and sometimes unknown tumor driver alterations. The clinical benefit of different targeted therapy approaches to interfere with altered signaling pathways and restore epigenetic dysregulation is undergoing active clinical testing. For these multiple pathway-driven tumors, combination strategies will most likely be required to achieve clinical benefit. Summary: The field of pediatric neuro-oncology made tremendous progress with regard to improved diagnosis setting the stage for precision medicine approaches over the last decades. The potential of targeted therapies has been clearly demonstrated for a subset of pediatric brain tumors. However, despite clear response rates, questions of sufficient blood-brain barrier penetration, optimal dosing, treatment duration as well as mechanisms of resistance and how these can be overcome with potential combination strategies need to be addressed in future investigations. Along this line, it is critical for future trials to define appropriate endpoints to assess therapy responses as well as short and long-term toxicities in the growing and developing child. [ABSTRACT FROM AUTHOR]

Background: Hydrocephalus may present with heterogeneous signs and symptoms. The indication for its treatment and the optimal drainage in complex cases may be challenging. Telemetric intracranial pressure measurements (TICPM) may open new perspectives for those circumstances. We report our experiences using the Neurovent-P-tel and the Sensor Reservoir in a retrospective study. Methods: A series of 21 patients (age range 10–39.5 years) treated in our Pediatric Neurosurgical Unit receiving a TICPM was analyzed. In 8 patients, a Neurovent-P-Tel was implanted; 13 patients received a Sensor Reservoir, 6 of which as a stand-alone implant, while 7 were already shunted. TICPM were performed on an outpatient basis. Possible complications, follow-up surgeries, and TICPM were analyzed. Results: Concerning the complications, one infection was seen in each group and one postoperative seizure was observed in the P-tel group. TICPM-assisted shunt adjustments lead to clinical improvements in six patients in the P-tel group and six patients in the Sensor Reservoir group. In four out of six non-shunted patients, TICPM contributed to the indication toward shunt implantation. Conclusions: TICPM seems to be a promising tool to improve clinical management of shunted patients with complex hydrocephalus. The two available systems will need further technical improvements, concerning implantation time, measurements, and data analysis in order to optimize handling and interpretation of the data. [ABSTRACT FROM AUTHOR]

Background: Glioblastoma (GBM) is the most malignant intracranial tumor in adults. However, the overall management of GBM in pregnancy is rarely reported. How to balance the therapeutic benefits to the mother and risks to the fetus remains hugely challenging for clinicians. The application of specific targeting therapy combined with conventional treatment sheds light on a longer lifetime for the patients suffering from GBM. Case Presentation: We present a pregnant female at 20 weeks gestation diagnosed with GBM. Surgical resection was initially performed without adjuvant therapy, and the tumor recurred de novo 2 months later. A secondary craniotomy and cesarean section were performed simultaneously at 32 weeks gestation, both the patient and infant were survived. She was subsequently treated with traditional chemo-radiotherapy. No other identified genetic alterations indicating an optimistic prognosis were detected except for BRAF V600E mutation. Thus, the BRAF inhibitor was placed on her with achieving a good clinical outcome of more than 2-year survival without recurrence. Conclusion: Personalized multidisciplinary therapy should be considered when GBMs occur in pregnancy. Response to the therapy in this presenting case suggests that BRAF V600E mutation is a favorable biomarker for GBM. The mortality of GBM might be reduced through genetic testing and targeted treatment. However, more studies must be conducted to confirm our observation. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 2 (NF2) is a rare genetic disease involving multiple tumors of the central and peripheral nervous systems. Most patients with NF2 have bilateral vestibular schwannomas; nonvestibular schwannomas may also develop. While the majority of patients may present with hearing impairment, tinnitus, dizziness and balance disorders, some may present with cutaneous manifestations. We describe the case of a 20-year-old man who initially presented with a solitary subcutaneous painless nodule in the left preauricular area without any other symptoms. He received excisional biopsy for the preauricular mass and the pathologic diagnosis was schwannoma. Magnetic resonance imaging of brain and neck revealed multiple mass lesions over the bilateral cerebellopontine angle cisterns, extending to the bilateral internal auditory canals, bilateral cervical neuroforamens, cervical and upper thoracic spinal canals, and left posterior neck. The patient was diagnosed with NF2 according to the clinical criteria. He underwent gamma knife stereotactic radiosurgery for bilateral vestibular schwannomas and is now under regular monitoring. Conclusion: NF2 patients may present with an isolated solitary cutaneous schwannoma with no other associated clinical findings. Further assessment is thus warranted in young patients presenting with a peripheral schwannoma despite absence of other clinical findings. [ABSTRACT FROM AUTHOR]