bluuebunny/crossref_metadata_2025_split huggingface dataset:
NFB-04. Evaluating focal areas of signal intensity (FASI) in children with neurofibromatosis type-1 (NF1) treated with selumetinib on PBTC-029B
Authors: Pillay Smiley Natasha , Leach James , Lane Adam , Hummel Trent , Fangusaro Jason , de Blank Peter 
Published: June 2022

Abstract
BACKGROUND: Focal Areas of Signal Intensity (FASI) are T2 hyperintense benign lesions in children with NF1. They can mimic the appearance of low-grade glioma (LGG). Selumetinib has shown efficacy in treatment of NF1-associated LGG but treatment effects on FASI have not yet been described. METHODS: Patients with NF1-associated LGG treated with selumetinib on Stratum 3 of PBTC-029B were compared to age-matched untreated children with NF1-associated LGG at Cincinnati Children’s Hospital Medical. FASI were defined by published criteria as T2 hyperintense lesions lacking mass effect, enhancement or T1 hypointensity. Lesion size was determined by cross-product of perpendicular measures in LGG and 1-3 FASI per subject. When multiple FASI were present, the sum of FASI cross-products was used. Change between baseline and the latest available measure within 4 months of control was assessed, insuring that selumetinib-treated subjects were still receiving therapy. RESULTS: Fifteen age-matched pairs were assessed (2.8-16.9 years and 60% were male). Initial FASI size was not different between groups (p=0.98; median [IQR]: 138.7mm2 [88.4-182.0] for treated subjects versus 121.6mm2 [79.6-181.9] for untreated subjects). Lesion change was measured over mean follow up of 18.9 + 5.9 months. Spider plots show decreased LGG size over time during treatment, but there was no consistent change in size among treated or untreated FASI. Comparing FASI size between paired timepoints showed no difference in change from baseline for treated subjects versus for untreated subjects (two-sided test; p=0.08). In subjects who received selumetinib, there was no correlation between change in LGG and change in FASI (r=-0.04, p=0.88). Using RANO criteria for FASI lesions, 2/30 (6.7%) subjects had partial response, 26/30 (86.7%) subjects had stable disease, and 2/30 (6.7%) subjects had progressive disease. CONCLUSIONS: While the sample size was limited, treatment with selumetinib did not reduce overall FASI size in children with NF1 and LGG.
NFB-15. "Cognitive Impairments in Children and Adolescents with Neurofibromatosis"
Authors: Mavrea Kalliopi , Kokkinou Eleftheria , Roka Kleoniki , Tsiorou Stavroula , Deligeorges Danae , Kanaka-Gantenbein Christina , Bacopoulou Flora , Pons Roser , Kattamis Antonis 
Published: June 2022

Abstract
INTRODUCTION-BACKGROUND: Cognitive, learning and/or behavioral disorders are common (up to 70%) complications of neurofibromatosis (NF). The first multidisciplinary-clinic for neurocutaneous-disorders was established at the Aghia Sophia Children’s Hospital in Athens, Greece, in 2016. Since then, more than 200 children and adolescents with NF have been examined. SCOPE: Acknowledging and indicating awareness on the devastating life-long consequences (poor academic performance, behavioral problems, and limited career prospectives) that can result from cognitive impairment, a research collaboration with educational specialists was recently implemented to examine the neurocognitive functions of children and adolescents with NF. MATERIALS: Children and adolescents aged 7-14 years who suffer from NF type I or type II, were eligible for study entry. The third edition of the Wechsler Intelligence Scale (WISC-III) was used to measure participants’ cognitive function. RESULTS: Preliminary results of this ongoing study are presented. Patients’ recruitment was limited by the coronavirus disease 2019 (COVID-19) restrictions. At this stage, the research involved 10 participants suffering from NF, with mean (± SD) age of 11.55 (± 1.80) years and a male-to-female ratio of 1. The mean (± SD) full-scale intelligence quotient (IQ) was 85.50 (± 18.80), corresponding to the 0.3rd to 73th percentile range. The mean (± SD) scores of performance IQ and verbal IQ were 84.90 (± 17.43) and 89.40 (± 17.23) respectively, corresponding to the 1st to 73rd percentile range for both subscales. CONCLUSION: Significant cognitive deficits, according to the percentile scores of WISC-III, were demonstrated in the small number of children and adolescents suffering from NF (type I or type II). Cognitive assessment, as part of the multidisciplinary approach of these patients is warranted, to aid timely educational interventions and improve patient learning outcomes.
QOL-19. Post-Intensive-Care Syndrome – pediatric (PICS-p) among patients with brain tumors – therapeutic strategies and preventive recommendations
Authors: Korzeniewska Justyna 
Published: June 2022

Abstract
BACKGROUND: Patients with brain tumors needed in intensive care unit (ICU) stay due to tumors symptoms or neurosurgery, experience a complex of physical, psychological, and cognitive symptoms. This constellation of signs and symptoms has been named Post-Intensive-Care Syndrome – pediatric (PICS-p). An interesting problem emerging from this research and requires a deeper exploration are the differences between PICS-p symptoms and primary tumors effects or side effects of treatment e.g. irradiation. METHOD: Psychological repeated testing and long-term observation was performed in 350 childhood brain tumor survivors (various types and localizations of tumor) to determine PICS-p symptoms. Age at psychological diagnosis ranged from 6 to 20 years. Full psychological outcome included assessment of psychophysical, cognitive and affective problems. The patients were examined using battery of neuropsychological methods and psychological interview. Analysis of medical history was also performed. The next level of the study was distinguished between PICS-p symptoms and the effects of tumor localization and oncology treatment, including radiotherapy. RESULTS: In our sample patients presents low scores in the all PICS-p domains: physical, cognitive and mental. Low level of motor skills, impairing daily living activities are characteristic. In this group lower IQ scores, poorer visual motor integration, learning disabilities, memory and language problems persisted. Typical problems in mental area are depressive symptoms, anxiety with intrusive memories, emotional and behavioural disruptions, socialization problems with significantly low level of social contacts. CONCLUSIONS: The results of this study suggest that PICS-p well describes and explains the psychosocial problems of these patients. It allows prepare an individual psychological interventions and rehabilitative program for particular patient as well as therapeutic strategies for whole group of patients. Draft recommendations for diagnosis of PICS-p specific for patients with brain tumors, risk factors and preventive procedures will be presented and discussed.
QOL-30. Positive Effects of a psychological preparation program for MRI in children with cognitive issues – how to best meet the patients’ needs
Authors: Weiler-Wichtl Liesa Josephine , Fries Jonathan , Fohn-Erhold Verena , Schwarzinger Agathe , Holzer Angelika , Pletschko Thomas , Furtner Julia , Preyer Daniela , Baer Paul , Slavc Irene , Peyrl Andreas , Azizi Amedeo , Leiss Ulrike 
Published: June 2022

Abstract
BACKGROUND: A growing body of evidence has supported alternatives to sedation and general anesthesia for increasing treatment compliance of children during MRI examinations. Particularities in children with a brain tumor (frequency of examinations, neuropsychological deficits (attention, memory)) have a significant impact on methods of treatment and are given special consideration in this study. OBJECTIVE: The aim of the present study was to (1) evaluate the effectiveness of an MRI training program and to investigate the moderating factors for successful MRI examination for a group of young patients with pediatric brain tumors and/or NF1 and (2) to examine the effect of the training on the patient’s well-being. METHODS: A total of 87 in the retrospective analyses (Study 1) and a subgroup of 17 patients in the prospective analyses (Study 2, ClinicalTrials.gov: NCT04474678) of the neuro-oncology unit with a mean age of 6.83 years underwent a two-step program to prepare children for MRI, including an in vitro strategy training inside the scanner and were recorded using a process-oriented screening. RESULTS: 81 % of the children who had received MRI training managed to successfully undergo the MRI scan. Hence, the rate of successful MRI examinations without anesthesia was almost five times as high in the group that received MRI training compared to the group that did not. Memory, attentional difficulties and hyperactivity were significant neuropsychological moderators for successful or unsuccessful scanning. Furthermore, the training was effective in improving the psychological well-being of the patients. CONCLUSION: Based on the results, the MRI training is an effective alternative to sedation of young patients for MRI examinations and a promising tool for improving patient well-being related to the diagnostic procedure. However, the intervention needs to be customized according to the children’s individual neuropsychological difficulties, which requires specialized psychological staff and an interdisciplinary approach.
QOL-32. Patients treated for malignant brain tumor in the first three years of life: clinical sequelae
Authors: Giaquinta Simonetta , Rossi Bartolomeo , Pillon Marta , Carraro Elisa , Biffi Alessandra , Viscardi Elisabetta 
Published: June 2022

Abstract
BACKGROUND: Pediatric Central Nervous System tumors are the most common solid tumors in children with a higher incidence rate in the first years of life. Patients treated for brain tumor are at high risk of sequelae. In the first years of life, brain immaturity increases the risk of developing these complications. OBJECTIVE: The goal of this study was to evaluate the medium and long term sequelae of malignant brain tumor treatment in patients diagnosed in the first three years of life and to correlate these sequelae with tumor histology, localization and treatment. PATIENTS AND METHODS: Forty - nine children with aggressive brain tumor diagnosed in the first three years of life followed in the Pediatric Hematology and Oncology Department of Padua between January 2000 and December 2020 were enrolled in this study. We evaluated features, such as age at onset, tumor localization, neurosurgical resection, histology, treatment and patient outocome. From May to September 2021 we clinically evaluated 16 of them who survived to treatment and we identified the presence of visual impairment, hearing loss, endocrine dysfunctions and neurological deficits in them. RESULTS: The most common sequelae in our patient population is motor impairment (30.8%), followed by endocrine dysfunction (23%), visual impairment (19.2%), epilepsy (11.6%), cranial nerve palsy (7.7%) and hearing loss (7.7%). In this study epilepsy is significantly associated with supratentorial tumors and endocrine dysfunction with high dose chemotherapy. CONCLUSIONS: Our data and recent literature confirm the high incidence of tumor and treatment sequelae in these patients. Therefore, since diagnosis, a multidisciplinary evaluation and management are necessary for improving patients’ prognosis.
SURG-04. Robotic alignment system Cirq (Brainlab) for navigated brain tumor biopsies in children
Authors: van Baarsen Kirsten , Slot Mariam , Woerdeman Peter , Han Sen , Hoving Eelco 
Published: June 2022

Abstract
BACKGROUND: With the incorporation of the robotic alignment system Cirq (Brainlab, Munich, Germany) into our neurosurgical armamentarium, we deemed it important to study application accuracy of this new device. As a baseline, we retrospectively reviewed our historical data on brain tumor biopsies using the non-robotic alignment instrument Varioguide (Brainlab, Munich, Germany). Because of relatively high target registration errors in this historical series, we sought to improve our registration with the introduction of Cirq. AIMS: 1.Share our experience with the new robotic alignment system Cirq for navigated brain tumor biopsies. 2. Compare patient-to-image registration methods. 3. Evaluate the accuracy of Cirq robotic system as compared to the non-robotic instrument Varioguide. METHODS: All patients (0-19 years old) who underwent a brain tumor biopsy at the Princess Máxima Center, Utrecht, were included. Over the period 2018-2020, data were collected retrospectively (cohort “Varioguide” in which patient-to-image registration was based on preoperative MRI with adhesive scalp fiducials). From 2021 onwards, data were collected prospectively (cohort “Cirq” in which patient-to-image registration was done using 1. A preoperative MRI with adhesive scalp fiducials and 2. An intraoperative CT head scan with bone screw fiducials). For both cohorts, Euclidian distances were calculated between the intended target and the obtained target using postoperative MRI scans. PRELIMINARY RESULTS : Nineteen patients were biopsied with Varioguide and nine patients with Cirq. The Cirq robotic system was convenient and safe in use with no intraoperative complications. Patient-to-image registration was more accurate when based on bone screw fiducials as compared to scalp fiducials. The Cirq robotic system, combined with bone fiducial registration, resulted in a high target accuracy with a maximum target error of 2 millimeters. CONCLUSION: The Cirq robotic alignment system, combined with bone screw fiducial registration, provides a safe and highly accurate method for brain tumor biopsies in children.
SURG-14. Value of the Classification of Intraoperative Adverse Events (ClassIntra) for Resection of CNS Neoplasms in Pediatric and Adolescent Patients
Authors: Drexler Richard , Fritzsche Friederike , Ricklefs Franz , Kammler Gertrud , Dohrmann Thorsten , Nitzschke Rainer , Westphal Manfred , Dührsen Lasse 
Published: June 2022

Abstract
OBJECTIVE: Outcome measuring is increasingly important in neurosurgery. Recently, a classification for assessing Intraoperative adverse events (iAE) was introduced (ClassIntra). We aimed to analyze the reliability of the ClassIntra to reflect Intraoperative complications and the potential to predict the outcome of pediatric and adolescent patients who underwent resection of CNS neoplasms. METHODS: A prospective study between 01 July and 31 December 2021 was conducted. The ClassIntra grade for each tumor resection was evaluated at sign-out (Grade 0 to V). Postoperative complications were graded after Clavien-Dindo and Comprehensive Complication Index (CCI). Neurological status was assessed prior surgery and at discharge using Lansky Index, NIHSS, NANO, GCS, and mRS. RESULTS: 21 pediatric and adolescent patients who underwent resection of CNS neoplasms were included. Of these, 8 (38.1%) were female with a mean (SD) age of 9.9 (5.2) years. During 13 (61.9%) resection an iAE was noted, of which 11 (52.4%) were classified as ClassIntra I and 2 (9.5%) as ClassIntra II. The majority (66.7%) underwent surgery for infratentorial pathology, whereas 4 (19.0%) had a supratentorial and 3 (14.3%) a spinal pathology. Preoperative characteristics did not correlate with the severity of ClassIntra. In patients without an iAE, a gross total resection was achieved more frequently (p=0.048). Focusing on postoperative outcome revealed a higher severity of cumulative complications as presented by the CCI (10.4 versus 40.5), longer hospital stay (p=0.04), and higher 30-day readmission rate (p&lt;0.01) in patients with an iAE. However, the neurological outcome and time to begin of adjuvant treatment did not correlate with the ClassIntra. CONCLUSION: Findings of this study suggest that the ClassIntra is sensitive for assessing iAEs and sufficient to identify cases with a higher risk for developing postoperative complications after resection of CNS neoplasms in pediatric and adolescent patients, but cannot predict a possible neurological deterioration.
OTHR-01. Papillary tumor of pineal region rare pediatric CNS tumor: case series treated in King Fahad Medical City KFMC
Authors: Ali Mobark Nahla , AlHarbi Musa , Alotabi Fahad , Alshoumer Azhar , Alsadi AbdulAziz , AlNaqib Zaid G , Shakweer Wafa Al , Balbaid Ali O , Abedalthagafi Malak 
Published: June 2022

Abstract
Clinical behaviors, prognosis, and appropriate treatments of PTPR are not fully defined due to the rarity of these tumors. At diagnosis, PTPR may present with various clinical symptoms with obstructive hydrocephalus, as well as neurological signs including Parinaud’s syndrome. Radiological assessment of pineal region lesions is challenging with a wide range of potential differential diagnoses. PTPR typically presents as a heterogeneous, well circumscribed mass in the pineal region. we report 3 female pediatric cases of PTPR treated in our institution. Histological and immunohistochemical diagnosis was confirmed by analysis of genome-wide DNA methylation profiles. the first case presenting with spinal leptomeningeal dissemination with excellent tumor control with radiation therapy alone. The second patient had aggressive course with recurrent local tumor growth despite radiation therapy and 0repeated surgical resections and she responded well to Pineoblastoma like intensive chemotherapy6 repeats of alternating 4-week cycles A&B : Cycle A: Cisplatin 90 mg/m2/day, day 1 of a & oral Etoposide 35 mg/m2/day P.O. days 1-21 . Cycle B: Cyclophosphamide 1 g/m2/day, days 1 and 2, Vincristine 1.5 mg/m2, days 1, 8 . While the third patient after first near gross total surgical resection with no recurrence for 18 months without adjuvant therapy then she had local recurrence which was salvaged by second complete resection and focal radiation The proper therapeutic strategy for PTPR is not clearer and the clinical behavior of PTPRs can be compared to that of ependymoma with complete resection is the mainstay of treatment and we recommend that adjuvant therapies like radiation with or without or chemotherapy should be considered when complete surgical resection is not feasible. This case series expands on the available reports on the clinical presentations of PTPR and provides important information on the responses to different treatments modalities
OTHR-25 Germline Mutations in Pediatric Brain Tumor
Authors: Li Shaoqun , Lai Mingyao , Cai Linbo 
Published: June 2022

Abstract
BACKGROUND: The exploration of germline mutations in pediatric brain tumor is helpful to improve the understanding of tumor genesis, guide the treatment, and provide genetic counseling for patients and their families. METHODS: In this study, children with primary brain tumor aged ≤18 years old in Guangdong Sanjiu Brain Hospital were enrolled．Tumor tissue or cerebrospinal fluid (CSF) next-generation sequencing (NGS) tests were required for all included patients. The genetic mutations in these children were analyzed and patients with germline mutations were screened. RESULTS: 135 pediatric patients with NGS detection were included in this patients. 63 patients were medulloblastoma, 54 were glioma. The rest were 5 ependymoma, 2other embryonal tumors, 2 pineoblastoma, 2 germ cell tumors, 1 pituitary adenoma, 1 neuroepithelial tumor, 1 Schwannoma, 1 neuronal tumor, 1 craniopharyngioma and 1 Rosai-Dorfman disease. NGS was performed on tissues of 122 patients and CSF of 13 patients. 7 patients underwent whole exome sequencing and the remaining 115 patients underwent panel detection. 6.67% (9/135) patients took germline mutations, which included 4 gliomas, 3 medulloblastomas, 1 schwannoma and 1 ependymoma. The rate of germline mutations were 7.41% (4/54) and 4.76% (3/63) in gliomas and medulloblastoma, respectively. The germinal mutations included TP53 missense mutation, BLM nonsense mutation, MSH2 nonsense mutation, MSH2 frameshift mutation, SUFU frameshift mutation, FANCI frameshift mutation, SBDS splicing site mutation, NF2 nonsense mutation and DIS3L2 nonsense mutation. These mutations are closely related to with Ligemeni syndrome, Bloom syndrome, Lynch syndrome, nevus basal cell carcinoma syndrome, Fanconi anemia, Shwachman-Diamond syndrome, neurofibromatosis type II and Perlman syndrome, respectively. 2 glioma patients had a family history of cancer. CONCLUSION: Pediatric patients with glioma, medulloblastoma, schwannoma and ependymoma are easily harboring germline mutations. For these patients, a detailed genetic history of family members is required and genetic counseling is recommended.
OTHR-42. Missing data tolerant integration of proteomic datasets enables the identification and characterization of brain cancer subtypes
Authors: Voss Hannah , Godbole Shweta , Schlumbohm Simon , Dottermusch Matthias , Schuhmann Yannis , Neumann Philipp , Schlüter Hartmut , Schüller Ulrich , Peng Bojia , Barwikowski Philip , Krisp Christoph , Neumann Julia E 
Published: June 2022

Abstract
Investigating the proteome can add a significant layer of information to manifold existing methylation, mutation, and transcriptome data on brain tumors as proteins represent the pharmacologically addressable phenotype of a disease. Small cohorts limit the usability and validity of statistical methods, and variable technical setups and high numbers of missing values make data integration from public sources challenging. Using a newly developed framework being able to reduce batch effects without the need for data reduction or missing value imputation, we show –based on in-house and publicly available datasets- successful integration of proteomic data across different tissue types, quantification platforms, and technical setups. Exemplarily, data of a Sonic hedgehog (Shh) medulloblastoma mouse model were analyzed, showing efficient data integration independent of tissue preservation strategy or batch. We further integrated batches of publicly available data of human brain tumors, confirming proposed proteomic cancer subtypes correlating with clinical features. We show that, missing value tolerant reduction of technical variances may be helpful to identify biomarkers, proteomic signatures, and altered pathways characteristic for molecular brain cancer subtypes.