scholarly journals Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report

2019 ◽  
Vol 131 (6) ◽  
pp. 1829-1834 ◽  
Author(s):  
Takahide Nejo ◽  
Shota Tanaka ◽  
Masako Ikemura ◽  
Masashi Nomura ◽  
Shunsaku Takayanagi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Cns Tumors ◽  
Diffuse Astrocytoma ◽  
Single Patient ◽  
Isocitrate Dehydrogenase 1 ◽  
Congenital Diseases ◽  
Maffucci Syndrome ◽  
Ollier Disease ◽  
Different Origins

Maffucci syndrome (MS) and Ollier disease (OD) are nonhereditary congenital diseases characterized by multiple enchondromas and/or chondrosarcomas. Recent studies have implicated somatic mosaic mutations of isocitrate dehydrogenase 1 or 2 (IDH1/2) as contributing to the pathogenesis of MS and OD. Occasionally, patients with these disorders may also present with central nervous system (CNS) tumors; however, detailed genetic analyses are limited. In this article, the authors report on a male patient with MS, harboring three CNS tumors that share a common genetic alteration. Over a 9-year period, three separate tumor resections were conducted for sellar, intraparenchymal brainstem, and osseous clival tumors. The histopathological diagnoses were pituitary adenoma, diffuse astrocytoma, and chondrosarcoma, respectively. Sanger sequencing revealed a common IDH1 R132C mutation among all three CNS tumors but not in blood DNA. Administering chemotherapy (nimustine) and subsequent radiation therapy to the brainstem glioma and the residual lesion in the clivus have kept the patient progression free for 18 months. This is the first report demonstrating an IDH1 mutation shared among three different CNS tumors in a single patient with MS. The findings support the hypothesis that in MS and OD, a single common IDH1 mutation triggers tumorigenesis in cells of different origins and locations in a somatic mosaic fashion.

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 PATH-27. MUTATION DETECTION USING PLASMA CELL-FREE DNA IN CHILDREN WITH CENTRAL NERVOUS SYSTEM TUMORS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii430-iii430
Author(s):  
Ross Mangum ◽  
Jacquelyn Reuther ◽  
Koel Sen Baksi ◽  
Ryan C Zabriskie ◽  
Ilavarasi Gandhi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Plasma Cell ◽  
Pediatric Patients ◽  
Cns Tumors ◽  
Cell Free Dna ◽  
Pilot Studies ◽  
Dna And Rna ◽  
Free Dna ◽  
Initial Cohort

Abstract BACKGROUND The role of plasma cell-free DNA (cfDNA) as a cancer biomarker for tracking treatment response and detecting early relapse has been well described for solid tumors outside the central nervous system (CNS). However, the presence of a blood-brain barrier complicates the application of plasma cfDNA analysis for patients with CNS malignancies. METHODS cfDNA was extracted from plasma of pediatric patients with CNS tumors utilizing a QIAmp® MinElute® kit and quantitated with Qubit 2.0 Fluorometer. Extensive genomic testing, including targeted DNA and RNA solid tumor panels, exome and transcriptome sequencing, as well as copy number array, was performed on matched tumor samples as part of the Texas KidsCanSeq study. An Archer® Reveal ctDNA28 NGS kit was then used for assaying the sensitivity of detecting tumor-specific mutations in the plasma of these patients. RESULTS A median of 10.7ng cfDNA/mL plasma (Interquartile range: 6.4 – 15.3) was extracted from 78 patients at time of study enrollment. Longitudinal samples from 24 patients exhibited a median yield of 7.7ng cfDNA/mL plasma (IQR: 5.9 – 9.1). An initial cohort of 6 patients was identified with 7 somatic variants covered by the Archer® Reveal kit. Four of seven mutations identified in matched tumor specimens were detected in patient plasma at variant allele frequencies ranging from 0.2–1%. CONCLUSIONS While challenging, detection of cfDNA in the plasma of pediatric patients with CNS tumors is possible and is being explored in a larger patient cohort along with pilot studies investigating cerebrospinal fluid as an additional source for tumor-specific cfDNA.

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.

Defining and Timing of Palliative Opportunities in Children with Central Nervous System Tumors

2021 ◽  
Author(s):  
A McCauley Massie ◽  
Jonathan Ebelhar ◽  
Kristen E Allen ◽  
Nicholas P DeGroote ◽  
Karen Wasilewski-Masker ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
End Of Life ◽  
Phase 1 ◽  
Marrow Transplant ◽  
Cns Tumors ◽  
Do Not Resuscitate ◽  
Intensive Care Admission ◽  
Repeated Events

Abstract Background Children with brain and central nervous system (CNS) tumors experience substantial challenges to their quality of life during their disease course. These challenges are opportunities for increased subspecialty palliative care (PC) involvement. Palliative opportunities have been defined in the pediatric oncology population, but the frequency, timing, and factors associated with palliative opportunities in pediatric patients with CNS tumors are unknown. Methods A single-institution retrospective review was performed on children ages 0-18 diagnosed with a CNS tumor who died between 01/01/2012-11/30/2017. Nine palliative opportunities were defined prior to data collection (progression; relapse; admission for severe symptoms; intensive care admission; bone marrow transplant; phase 1 trial; hospice; do-not-resuscitate (DNR) order). Demographic, disease, treatment, palliative opportunity, and end-of-life data were collected. Opportunities were evaluated over quartiles from diagnosis to death. Results Amongst 101 patients with a median age at death of eight years (Interquartile range, IQR=8.0, range 0-22), there was a median of seven (IQR=6) palliative opportunities per patient, which increased closer to death. PC consultation occurred in 34 (33.7%) patients, at a median of 2.2 months before death, and was associated with having a DNR order (p=0.0028). Hospice was involved for 72 (71.3%) patients. Conclusion Children with CNS tumors suffered repeated events warranting PC yet received PC support only one-third of the time. Mapping palliative opportunities over the cancer course promotes earlier timing of PC consultation which can decrease suffering and resuscitation attempts at the end-of-life.

scholarly journals Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Jianling Ji ◽  
Kristiyana Kaneva ◽  
Matthew C Hiemenz ◽  
Girish Dhall ◽  
Tom Belle Davidson ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Utility ◽  
Adolescent And Young Adult ◽  
Cns Tumors ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genomic Profiling ◽  
Comprehensive Genomic Profiling ◽  
Clinically Significant

Abstract Background Recent large-scale genomic studies have revealed a spectrum of genetic variants associated with specific subtypes of central nervous system (CNS) tumors. The aim of this study was to determine the clinical utility of comprehensive genomic profiling of pediatric, adolescent and young adult (AYA) CNS tumors in a prospective setting, including detection of DNA sequence variants, gene fusions, copy number alterations (CNAs), and loss of heterozygosity. Methods OncoKids, a comprehensive DNA- and RNA-based next-generation sequencing (NGS) panel, in conjunction with chromosomal microarray analysis (CMA) was employed to detect diagnostic, prognostic, and therapeutic markers. NGS was performed on 222 specimens from 212 patients. Clinical CMA data were analyzed in parallel for 66% (146/222) of cases. Results NGS demonstrated clinically significant alterations in 66% (147/222) of cases. Diagnostic markers were identified in 62% (138/222) of cases. Prognostic information and targetable genomic alterations were identified in 22% (49/222) and 18% (41/222) of cases, respectively. Diagnostic or prognostic CNAs were revealed by CMA in 69% (101/146) of cases. Importantly, clinically significant CNAs were detected in 57% (34/60) of cases with noncontributory NGS results. Germline cancer predisposition testing was indicated for 27% (57/212) of patients. Follow-up germline testing was performed for 20 patients which confirmed a germline pathogenic/likely pathogenic variant in 9 cases: TP53 (2), NF1 (2), SMARCB1 (1), NF2 (1), MSH6 (1), PMS2 (1), and a patient with 47,XXY Klinefelter syndrome. Conclusions Our results demonstrate the significant clinical utility of integrating genomic profiling into routine clinical testing for pediatric and AYA patients with CNS tumors.

scholarly journals LINC-39. PERFORMANCE STATUS OF PEDIATRIC PATIENTS WITH CENTRAL NERVOUS SYSTEM TUMORS TREATED IN MEXICO, A SINGLE-CENTER EXPERIENCE

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii385-iii386
Author(s):  
Claudia Madrigal-Avila ◽  
Alfonso Perez-Bañuelos ◽  
Rafael Ruvalcaba-Sanchez ◽  
Lourdes Vega-Vega ◽  
Gabriela Escamilla-Asiain
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Multidisciplinary Approach ◽  
Pediatric Patients ◽  
Performance Status ◽  
Retrospective Chart Review ◽  
Cns Tumors ◽  
Surgical Morbidity ◽  
Tertiary Center

Abstract BACKGROUND Central nervous system (CNS) tumors are the most common solid neoplasms in the pediatric age, they comprise about a quarter of all cancers at this age. Little is known about the specific epidemiology of this group in Mexico and there are no reports of results focused on the Performance Status of patients who are treated in a multidisciplinary setting. OBJECTIVE To describe the Performance Status of CNS pediatric patients after being treated with a multidisciplinary approach in a tertiary center. METHODS We report a retrospective chart review of all pediatric patients who presented to the Neuro-Oncology Clinic at Teleton Pediatric Oncology Hospital in Queretaro, Mexico, from December 2014 to January 2020. We analyzed age, gender, the extent of surgical resection and histopathology. Performance Status was assessed using ECOG and Karnofsky/Lansky scores during every patient’s last follow-up visit. RESULTS A total of 56 patients were treated, epidemiology and histopathology variants are similar to those described in the international literature. With a median follow-up of 33 months, 35 patients are alive (62.5%), 28 of them (74.2%) have an excellent Performance Status (ECOG score 0 or Lansky/Karnofsky ≥ 90), 5 (14.2%) scored ECOG 1–2 and only 4 (11.4%) scored ECOG 3–4. CONCLUSIONS A multidisciplinary approach with a focus on Performance Status and the potential for neurological recovery is essential in the management of pediatric patients with CNS tumors. Efforts should be aimed at reducing post-surgical morbidity and early rehabilitation to reintegrate patients into society in the long term.

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 Epidemiologic Study of Central Nervous System Tumors in Rwanda

2020 ◽  
pp. 1-14
Author(s):  
David Hakizimana ◽  
Agabe Emmy Nkusi ◽  
David Hakizimana ◽  
Eric Shingiro ◽  
Paulin Munyemana ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Tumors ◽  
Age Groups ◽  
Epidemiologic Study ◽  
Cns Tumors ◽  
Central Nervous System Tumors ◽  
Secondary Neoplasms ◽  
Nervous System Tumors ◽  
The Central Nervous System

Introduction: Tumors of the central nervous system (CNS) are primary or secondary neoplasms located within the craniovertebral cavity. The incidence of CNS tumors is not uniform with variation between different countries, age groups and races. Objective: Our study aim was to generate new knowledge of the epidemiology of central nervous system tumors in Rwanda. Method: This was an observational retrospective study of all patients diagnosed with CNS tumors in Rwanda over a period of 10 years, from 1st January 2006 to 31st December 2015. Results: 466 patients enrolled, (52.2% females, 47.8% males). The median age at diagnosis of was 37 years. Brain tumors were 82.7%; spine tumor patients were 16.4%. The average annual age-standardized incidence of CNS tumors was 0.43/100, 0000 person-years and varied with age groups. Tumors of meningothelial cells represented the majority of brain tumors (31.8%). Metastatic tumors were the far most common spine tumors category. 55.8 % of CNS tumors reported in our study were histologically confirmed and of nonmalignant meningiomas were the commonest (33.9%). Conclusion: This is the very first study done on epidemiology of CNS tumors in Rwanda, and generated data about incidence of CNS tumors in Rwanda and their location and histological distribution.

scholarly journals Intermittent Myokymia as a Pointer to Hemangioblastoma of the Cervical Spine: A Case Report

2018 ◽  
Vol 10 (3) ◽  
pp. 338-341
Author(s):  
Christian Saleh ◽  
Nino Akhalbedashvili ◽  
Maria  Garcia Peraza ◽  
Konstantinos Athanasios Boviatsis ◽  
Margret  Hund-Georgiadis
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Cervical Spine ◽  
Medulla Oblongata ◽  
Cns Tumors ◽  
Review Of The Literature

Hemangioblastomas represent 3% of all central nervous system (CNS) tumors. The majority of CNS hemangioblastomas are infratentorial, with the cerebellum being the most frequent location, while 13% are found in the brainstem. Symptoms of brainstem hemangioblastomas can be very subtle and might therefore be overlooked or misinterpreted. We report the case of a patient with a hemangioblastoma at the junction of the medulla oblongata and the cervical spine and provide a brief review of the literature.

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