scholarly journals AURKA gene polymorphisms and central nervous system tumor susceptibility in Chinese children

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Yong-Ping Chen ◽  
Li Yuan ◽  
Hui-Ran Lin ◽  
Xiao-Kai Huang ◽  
Ji-Chen Ruan ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Chinese Children ◽  
Cns Tumors ◽  
Childhood And Adolescence ◽  
Control Analysis ◽  
Central Nervous System Tumor ◽  
Nucleotide Polymorphisms ◽  
Cns Tumor ◽  
Tumor Susceptibility

Abstract Introduction Central nervous system (CNS) tumors comprise 15–20% of all malignancies occurring in childhood and adolescence. Previous researches have shown that overexpression and amplification of the AURKA gene could induce multiple human malignancies, with which the connection of CNS tumor susceptibility has not been extensively studied. Material and methods In this study, we assessed whether and to what extent AURKA gene single nucleotide polymorphisms (SNPs) (rs1047972 C > T, rs2273535 T > A, rs8173 G > C) were associated with CNS tumor susceptibility, based on a case–control analysis in 191 CNS tumor patients and 248 controls. We determined this correlation using odds ratios (ORs) and 95% confidence intervals (CIs). Results AURKA gene rs8173 G > C exhibited a crucial function to CNS tumor susceptibility fall-off (GC/CC vs. GG: adjusted OR = 0.68, 95% CI = 0.46–0.998, P = 0.049). In addition, the combined effect of lowering the risk of developing CNS tumors was more pronounced in carriers with 3 protective genotypes than others (adjusted OR = 0.55, 95% CI = 0.31–0.98, P = 0.044). Further stratification analysis illustrated that the existence of rs8173 GC/CC and three protective genotypes lowered CNS tumor risk in some subgroups. Conclusions Our research suggested that the AURKA gene rs8173 G > C could significantly reduce CNS tumor susceptibility in Chinese children. More functional experiments are needed to explore the role of the AURKA gene rs8173 G > C.

scholarly journals QOL-36. USE OF CANNABINOIDS IN THE PEDIATRIC CENTRAL NERVOUS SYSTEM TUMOR POPULATION

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii438-iii438
Author(s):  
Kathleen Dorris ◽  
Jessica Channell ◽  
Ashley Mettetal ◽  
Molly Hemenway ◽  
Natalie Briones ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Central Nervous System ◽  
Nervous System ◽  
Cell Activity ◽  
Cns Tumors ◽  
Low Grade ◽  
Tumor Type ◽  
Central Nervous System Tumor ◽  
The Impact

Abstract BACKGROUND Cannabinoids, including cannabidiol (CBD) and tetrahydrocannabinol (THC), are a class of compounds found in marijuana. Numerous studies in adults have examined cannabinoid use in management of cancer-related symptoms such as nausea, anorexia, and pain. Less is known about the use in the pediatric oncology population. METHODS A prospective observational study has been ongoing since 2016 at Children’s Hospital Colorado to evaluate cannabinoids’ impact using PedsQL™ modules on quality of life of pediatric patients with central nervous system (CNS) tumors who are 2–18 years old. Laboratory assessments of T-cell activity and pharmacokinetics of CBD, THC and associated metabolites are in process. Diaries with exploratory information on cannabinoid use patterns are being collected. RESULTS Thirty-three patients (14:19; male:female) have been enrolled with a median age of 6.4 years (range, 2.9–17.7 years). The most common tumor type in enrolled patients is embryonal tumors (13/33; 39%). Nine (27%) patients have low-grade glial/glioneuronal tumors, and eight (24%) had high-grade/diffuse midline gliomas. The remaining patients had ependymoma or craniopharyngioma. The median time on cannabinoids is 9 months. Most (n=20) patients have used oral products with CBD and THC. One patient continues on cannabinoid therapy in follow up. Preliminary immune function analyses identified impaired neutrophil superoxide anion production and chemotaxis in patients taking cannabinoids at early time points on therapy. CONCLUSIONS Families of children with various CNS tumors are pursuing cannabinoid therapy for both antitumor and supportive care purposes. Analysis of the impact of cannabinoids on patients’ quality of life is ongoing.

scholarly journals Co-Deregulated miRNA Signatures in Childhood Central Nervous System Tumors: In Search for Common Tumor miRNA-Related Mechanics

Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 3028
Author(s):  
George I. Lambrou ◽  
Apostolos Zaravinos ◽  
Maria Braoudaki
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Cns Tumors ◽  
Normal Brain ◽  
Cns Tumor ◽  
Different Types ◽  
Receiver Operator Curve Analysis ◽  
The Central Nervous System ◽  
Tumor Types ◽  
Operator Curve

Despite extensive experimentation on pediatric tumors of the central nervous system (CNS), related to both prognosis, diagnosis and treatment, the understanding of pathogenesis and etiology of the disease remains scarce. MicroRNAs are known to be involved in CNS tumor oncogenesis. We hypothesized that CNS tumors possess commonly deregulated miRNAs across different CNS tumor types. Aim: The current study aims to reveal the co-deregulated miRNAs across different types of pediatric CNS tumors. Materials: A total of 439 CNS tumor samples were collected from both in-house microarray experiments as well as data available in public databases. Diagnoses included medulloblastoma, astrocytoma, ependydoma, cortical dysplasia, glioblastoma, ATRT, germinoma, teratoma, yoc sac tumors, ocular tumors and retinoblastoma. Results: We found miRNAs that were globally up- or down-regulated in the majority of the CNS tumor samples. MiR-376B and miR-372 were co-upregulated, whereas miR-149, miR-214, miR-574, miR-595 and miR-765 among others, were co-downregulated across all CNS tumors. Receiver-operator curve analysis showed that miR-149, miR-214, miR-574, miR-595 and miR765 could distinguish between CNS tumors and normal brain tissue. Conclusions: Our approach could prove significant in the search for global miRNA targets for tumor diagnosis and therapy. To the best of our knowledge, there are no previous reports concerning the present approach.

scholarly journals Long-term medical imaging use in children with central nervous system tumors

PLoS ONE ◽  
2021 ◽  
Vol 16 (4) ◽  
pp. e0248643
Author(s):  
Erin J. A. Bowles ◽  
Diana L. Miglioretti ◽  
Marilyn L. Kwan ◽  
Ute Bartels ◽  
Adam Furst ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Medical Imaging ◽  
Tumor Grade ◽  
Tumor Diagnosis ◽  
Cns Tumors ◽  
Cns Tumor ◽  
Longitudinal Imaging ◽  
The U.S

Background Children with central nervous system (CNS) tumors undergo frequent imaging for diagnosis and follow-up, but few studies have characterized longitudinal imaging patterns. We described medical imaging in children before and after malignant CNS tumor diagnosis. Procedure We conducted a retrospective cohort study of children aged 0–20 years diagnosed with CNS tumors between 1996–2016 at six U.S. integrated healthcare systems and Ontario, Canada. We collected computed topography (CT), magnetic resonance imaging (MRI), radiography, ultrasound, nuclear medicine examinations from 12 months before through 10 years after CNS diagnosis censoring six months before death or a subsequent cancer diagnosis, disenrollment from the health system, age 21 years, or December 31, 2016. We calculated imaging rates per child per month stratified by modality, country, diagnosis age, calendar year, time since diagnosis, and tumor grade. Results We observed 1,879 children with median four years follow-up post-diagnosis in the U.S. and seven years in Ontario, Canada. During the diagnosis period (±15 days of diagnosis), children averaged 1.10 CTs (95% confidence interval [CI] 1.09–1.13) and 2.14 MRIs (95%CI 2.12–2.16) in the U.S., and 1.67 CTs (95%CI 1.65–1.68) and 1.86 MRIs (95%CI 1.85–1.88) in Ontario. Within one year after diagnosis, 19% of children had ≥5 CTs and 45% had ≥5 MRIs. By nine years after diagnosis, children averaged one MRI and one radiograph per year with little use of other imaging modalities. Conclusions MRI and CT are commonly used for CNS tumor diagnosis, whereas MRI is the primary modality used during surveillance of children with CNS tumors.

scholarly journals Liaison psychiatry in a central nervous system tumor service

2015 ◽  
Vol 2 (2) ◽  
pp. 88-92
Author(s):  
Alex C.N. Holmes ◽  
Sophia J. Adams ◽  
Scott Hall ◽  
Mark A. Rosenthal ◽  
Katharine J. Drummond
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neuropsychiatric Symptoms ◽  
Lower Grade ◽  
Central Nervous System Tumor ◽  
Liaison Psychiatry ◽  
Cns Tumor ◽  
Treatment Information ◽  
Psychological Medicine ◽  
The Central Nervous System

AbstractBackgroundTumors of the central nervous system (CNS) have physical and psychological effects that commonly interact and change over time. Although well suited to addressing problems at the interface between physical and psychological medicine, the role of the consultation-liaison psychiatrist has not been previously described in the management of these patients. The purpose of this paper is to summarize the experience of psychiatry liaison attachment within a CNS tumor service and to reflect on its utility within a complex multidisciplinary environment.MethodsA retrospective file review was performed on all cases seen by a psychiatrist in a CNS tumor service over the previous 5 years. A simple thematic inductive analysis was conducted of the common problems experienced by patients and their management by the psychiatrist and within the team.ResultsFive common themes were identified: (i) facilitating adaptation to diagnosis; (ii) supporting living with lower-grade tumors; (iii) managing mental disorders; (iv) neuropsychiatric symptoms of tumor progression; and (v) grief and uncertainty in the advanced stages of illness. The capacity of the psychiatrist to understand and integrate the clinical, pathological, radiological, and treatment information, in communication with colleagues, helped address these challenges.ConclusionsPsychological challenges in CNS tumor patients have both psychological and neurological underpinnings. In our experience, the addition of a liaison psychiatrist to a CNS tumor service was efficient and effective in improving patient management and led to enhanced communication and decision-making within the team.

scholarly journals Histopathological analysis of central nervous system tumor; an observational study

2018 ◽  
Vol 8 (2) ◽  
pp. 1393-1398
Author(s):  
Trishna Kakshapati ◽  
Ranga Bahadur Basnet ◽  
Basant Pant ◽  
Deepti Gautam
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pituitary Adenoma ◽  
Developed Countries ◽  
Histopathological Analysis ◽  
Central Nervous System Tumor ◽  
Astrocytic Tumor ◽  
Who Grade ◽  
Cns Tumor ◽  
System Tumor

Background:  Though the central nervous system tumor comprises ~2% of all the tumors, an overall increase has been observed especially in less developed countries. This increase in the incidence may be due to exposure of population to various risk factors or improved diagnosis with advancement in the ancillary studies. This study aims to provide a single centre histopathological spectrum of this type of tumor.Materials and Methods: A retrospective cross sectional study on a series of cases was performed in the Department of Pathology, Annapurna Neurological Institute & Allied Science , Maitighar , Kathmandu, Nepal from April 2013 to Jan 2016. Data were analyzed using SPSS version 21.0.Results: A total of 221 brain and CNS tumors (125 females and 96 males) were studied. The mean age at diagnosis was 43.77 years. The most common tumor was meningioma(67 cases, 30.3%), followed by astrocytic tumor (57 cases, 25.7%) and pituitary adenoma(30 cases,13.6%). The frequency of WHO grade I, II,III and IV tumor were 94 cases (55%), 34 cases (19.9%),10 cases (5.8%), and 33 cases (19.3%) respectively. The astrocytic tumor was most frequent tumor in children (7/20 caes, 37 %).Conclusion: This study showed the most common CNS tumor to be meningioma followed by astrocytic tumors and pituitary adenoma. The spectrum of CNS tumor in children showed divergent histologic pattern according to the age. In age group 0-10 years embryonal tumors were common whereas ages group of 12-years showed propensity towards astrocytoma as in adults.  

scholarly journals An Integrated Analysis of Tumor Purity of Common Central Nervous System Tumors in Children Based on Machine Learning Methods

2021 ◽  
Vol 12 ◽  
Author(s):  
Jian Yang ◽  
Jiajia Wang ◽  
Shuaiwei Tian ◽  
Qinhua Wang ◽  
Yang Zhao ◽  
...  
Keyword(s):  
Machine Learning ◽  
Central Nervous System ◽  
Nervous System ◽  
Random Forest ◽  
Cns Tumors ◽  
Integrated Analysis ◽  
Immune Microenvironment ◽  
Cns Tumor ◽  
Tumor Sample ◽  
Tumor Purity

Background: Tumor purity is defined as the proportion of cancer cells in the tumor tissue, and its effects on molecular genetics, the immune microenvironment, and the prognosis of children’s central nervous system (CNS) tumors are under-researched.Methods: We applied random forest machine learning, the InfiniumPurify algorithm, and the ESTIMATE algorithm to estimate the tumor purity of every child’s CNS tumor sample in several published pediatric CNS tumor sample datasets from Gene Expression Omnibus (GEO), aiming to perform an integrated analysis on the tumor purity of children’s CNS tumors.Results: Only the purity of CNS tumors in children based on the random forest (RF) machine learning method was normally distributed. In addition, the children’s CNS tumor purity was associated with primary clinical pathological and molecular indicators. Enrichment analysis of biological pathways related to the purity of medulloblastoma (MB) revealed some classical signaling pathways associated with MB biology and development-related pathways. According to the correlation analysis between MB purity and the immune microenvironment, three immune-related genes, namely, CD8A, CXCR2, and TNFRSF14, were negatively related to MB purity. In contrast, no significant correlation was detected between immunotherapy-associated markers, such as PD-1, PD-L1, and CTLA4; most infiltrating immune cells; and MB purity. In the tumor purity–related survival analysis of MB, ependymoma (EPN), and children’s high-grade glioma, we discovered a minor effect of tumor purity on the survival of the aforementioned pediatric patients with CNS tumors.Conclusion: Our purity pediatric pan-CNS tumor analysis provides a deeper understanding and helps with the clinical management of pediatric CNS tumors.

Practical Neuropathology Synoptic Reporting for Central Nervous System Tumors

2011 ◽  
Vol 135 (6) ◽  
pp. 789-792
Author(s):  
Mark W. Becher
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Data Extraction ◽  
Tnm Classification ◽  
Cns Tumors ◽  
Imaging Data ◽  
Cns Tumor ◽  
Narrative Report ◽  
Laboratory Information Systems ◽  
Synoptic Reporting

Abstract Context.—Synoptic reporting for central nervous system (CNS) tumors has never been formally addressed, and neuropathologists lack practical templates that they can adapt to their laboratory information system to be compliant with College of American Pathologists (CAP) standards. Objectives.—To provide practical synoptic report templates designed for CNS tumors that allow for easy data extraction and CAP compliance and improve the reporting of CNS tumors. Data Sources.—Review of literature and synoptic report format experience in our practice. Conclusions.—Synoptic reporting of required elements is a recently introduced standard for CNS tumors. It is difficult to use a universal non-CNS tumor synoptic report template for CNS tumors because they are heavily weighted to include items not important or required for CNS tumors, such as margins and the TNM classification system. In addition, the CAP CNS protocol, published in 2008, is an immense comprehensive document that is not conducive to simple inclusion in a narrative report. We describe our experience using a synoptic template for CNS tumors that includes all required elements, is tailored to the practice of neuropathology, and can easily be adapted to other laboratory information systems. Because of the multidisciplinary nature of CNS tumor diagnoses, neuropathologists typically collect clinical, demographic, and imaging data on all CNS tumor cases. These data can readily be entered into a primary synoptic report that could replace our standard narrative report.

scholarly journals PATH-21. CLINICAL UTILITY OF DNA METHYLATION PROFILING FOR DIAGNOSIS OF CHALLENGING CENTRAL NERVOUS SYSTEM TUMORS: THE TORONTO EXPERIENCE

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi147-vi147
Author(s):  
Shirin Karimi ◽  
Jeffrey Zuccato ◽  
Yasin Mamatjan ◽  
Sheila Mansouri ◽  
Suganth Suppiah ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Central Nervous System ◽  
Nervous System ◽  
Clinical Utility ◽  
Cns Tumors ◽  
Cns Tumor ◽  
Dna Methylation Profiling ◽  
Diffuse Gliomas ◽  
Methylation Profiling

Abstract The update on the WHO classification of central nervous system (CNS) tumors incorporated molecular signatures for a more accurate diagnosis. Recently, DKFZ has demonstrated the utility of DNA methylation profiling(MP) for molecular classification of CNS tumors. We performed a prospective clinical study over the last three years to evaluate the clinical utility ofDNA MP on FFPE samples of 66 challenging CNS tumor cases using online DKFZ classifier. Eleven samples were excluded due to low tumor DNA content or low calibration(predictive) scores(CS)< 0.3.DNA MP confirmed the original pathology diagnoses in 15(27%)cases. The integrated molecular diagnoses were changed in 38/55(70%) including establishment of a new diagnostic entity, change in molecular signature and subtyping. TheWHO grades were changed in 16(27%) of the tumors; about two-thirds resulted in upgrading. We detected non-canonical IDH mutations in 9 diffuse gliomas and the CNV plots revealed false positive FISH results for 1p/19q co-deletion in two diffuse gliomas. The CNV plots contributed to the final diagnosis in 40(72%) patients. The molecular subtypes of medulloblastoma, ependymoma and glioblastoma subclasses were determined in 36(65%) cases. Seventy-five percent of cases with confirmation of initial diagnosis or change in molecular diagnosis had CS > 0.5, among which 51% had a CS >0.9. The median and range CS of cases with new diagnostic entity and confirmed cases were 0.86(0.37–0.99) and 0.98(0.42–0.99), respectably. Furthermore, we detected higher CS in IDH-mutant gliomas in comparison to glioblastoma IDH-wild type(P=0.04). We also observed lower CS in mesenchymal glioblastoma in comparison to other subclasses. The MGMT promoter methylation was determined in 17/20(85%) glioblastoma cases. While the DKFZ group established CS of 0.9 as a cut-off for matching to methylation classes, our findings suggest lower threshold values in challenging CNS tumor cases. Our experience indicates clinical utility of MP of challenging CNS tumors as a reliable ancillary diagnostic tool in routine neuropathology practice.

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