bluuebunny/crossref_metadata_2025_split huggingface dataset:
NFS-02. MEDULLOBLASTOMAS WITH ELP1 PATHOGENIC VARIANTS: A WEAKLY PENETRANT SYNDROME WITH A RESTRICTED SPECTRUM IN A LIMITED AGE WINDOW
Authors: GUERRINI-ROUSSEAU Léa , Masliah-Planchon Julien , Filser Mathilde , Tauziede-Espariat Arnault , Entz-Werle Natacha , Maugard Catherine , Hopman Saskia , Torrejon-Diaz Jacob , Gauthier-Villars Marion , Simaga Fatoumata , Blauwblomme Thomas , Beccaria Kevin , Rouleau Etienne , Dimaria Marina , Grill Jacques , Abbou Samuel , Claret Béatrice , Brugières Laurence , Doz François , Bouchoucha Yassine , Faure-Conter Cécile , Bonadona Valerie , Mansuy Ludovic , de Carli Emilie , Ingster Olivier , Legrand Clémentine , Pagnier Anne , Berthet Pascaline , Bodet Damien , Julia Sophie , Bertozzi Anne-Isabelle , Wilems Marjolaine , Maurage Claude-Alain , Delattre Olivier , Ayrault Olivier , Dufour Christelle , Bourdeaut Franck 
Published: June 2024

Abstract

BACKGROUND
Medulloblastomas (MB) Sonic hedgehog (SHH) subtype are associated with a cancer predisposition syndrome (CPS) in about 15% of cases, the most frequent being related to ELP1 pathogenic variant (PV). The aim of our study is to better evaluate penetrance of this CPS and detail the characteristics of the related tumors.

METHODS
Twenty-nine ELP1-mutated MB identified in France were retrospectively reviewed. Molecular characteristics of the tumor and clinical features of the patients were collected; whenever possible, the germline DNA from patients and their relatives were sequenced.

RESULTS
All patients (sex ratio 16/13) presented with SHH-MB, mostly nodular desmoplastic (n=20/28), between 3 and 15 years of age (median 7.3). All mutations are found in the germline when a constitutional DNA sample was available (n=26). Most tumors (93%) showed a biallelic inactivation of PTCH1, other recurrent alterations concerned the TP53 pathway (including 1 somatic TP53 VP) and activation of MYCN/MYCL signaling. We observed that ELP1-mutated MB behave as sporadic cases, with similar distribution within clinical and molecular risk groups of MB, similar outcomes (5y-OS = 85%) and no unusual side effects of treatments. Three patients developed a second tumor (2 high-grade gliomas and 1 thyroid carcinoma) within the irradiation fields. All germline PV were inherited from one asymptomatic parent (11 trio). No specific morphological features were mentioned. Only two index cases from the 29 French patients had a previous familial history of MB (occurring in a cousin), with many asymptomatic carriers. Except the MB, no other cancer was significantly associated with the ELP1 PV.

CONCLUSIONS
the low penetrance, the ‘at risk’ age window limited to childhood and the narrow tumor spectrum, question the actual benefit of genetic screening in these patients and their family. Our results suggest restricting ELP1 germline sequencing to patients with MB, depending on the parents’ request.
NFS-14. INTERCEPTION TREATMENT STRATEGY FOR INCIDENTAL LESIONS IN CHILDREN, ADOLESCENTS AND YOUNG ADULTS (AYA) USING LASER INTERSTITIAL THERMAL THERAPY (LITT)
Authors: Nguyen Rita H , Guadix Sergio , Donzelli Maria , Sanders Colleen , Rosenblum Marc K , Bale Tejus A , Greenfield Jeffrey P , Souweidane Mark M 
Published: June 2024

Abstract

BACKGROUND
Due to widespread availability and lower threshold for neuroimaging, incidental brain lesions have increased. When a high index of suspicion exists for a neoplastic process, early treatment might be beneficial. This is appealing in cases of tumor predilection such as cancer predisposition syndromes or history of therapeutic irradiation. LITT may provide a means for total tumor extirpation in these otherwise surgically inaccessible lesions and intercept eventual anatomic or pathologic evolution. The aim of this study is to evaluate our evolving experience based on an early and minimally invasive strategy using LITT.

METHODS
Prospective review of pediatric and AYA patients in whom incidentally discovered lesions were treated with simultaneous stereotactic biopsy and LITT. Demographic data, presenting symptoms, adverse events and outcomes are reviewed.

RESULTS
Mean age for 9 patients is 11.8 years. 4 patients had tumor predilection: 2 with familial tumor predisposition syndrome and 2 history of cranial-sirradiation. In 4 patients imaging was performed for surveillance of other brain tumor or focal cortical dysplasia. 3 patients had imaging for headache. Mean time from initial finding to treatment was 29.7 months. Recommendation to proceed with treatment was due to interval growth, concerning features (contrast-enhancement), or high potential for malignant transformation. 1 patient had facial weakness and 1 patient had visual field deficit that resolved. Pathological diagnoses revealed low-grade tumor in 4 patients and non-diagnostic pathology in 5. No patients received additional tumor-directed therapy during a mean follow-up of 14.7 months. There was no evidence of tumor recurrence in any patient.

CONCLUSION
An early therapeutic strategy aimed at tumor interception is feasible in pediatric and AYA patients for incidental lesions. Early results might influence the design of future strategies for simultaneous or sequential diagnostic and thermal therapy. Evolving tumor control rates support the therapeutic potential of LITT in central, surgically-inaccessible incidental tumors.
NFS-15. SPECIFIC FOR NF1, BASED ON SOCIAL COGNITION DEFICITS, MALADAPTIVE BEHAVIORS AS RISK FACTORS OF DIFFICULTIES IN THE SOCIO-EMOTIONAL FUNCTIONING
Authors: Korzeniewska Justyna 
Published: June 2024

Abstract

BACKGROUND
The neurocognitive effects of NF1 include social cognition deficits, which are significant, because cause cognitive and social functioning. Social cognition is defined as cognitive processes related to the perception and understanding of cues in the environment that communicate social and interpersonal information and the ability to use those cues to interpret the thoughts and reactions of others and to modify one’s own behaviors to fit the social context. The purpose of the study was to describe cognitive deficits and behavioral phenotype of NF1, as well as looking for connections between deficits of social cognition and socio-emotional status in NF1.

METHODS
Psychological repeated testing and long-term observation was performed in 100 patients with NF1. Age at psychological diagnosis: 3 - 18 years. Full psychological outcome assessed cognitive, verbal and affective problems associated with manifestations of NF1. The patients were examined using battery of neuropsychological methods, psychological interview and analysis of medical history. For research of social functioning used subscales of Vineland Adaptive Behavior Scales (VABS-II) and Child Behavior Checklist (CBCL). We assessed also maladaptive behavior as a risk of social rejection. The main point of the assessment was to discover link between social cognition and challenging behaviors.

RESULTS
In the sample of patients with NF1 we observed specific social difficulties associated with emotional disturbances and social rejection. This specific behavioral phenotype and social cognition deficits disturbed learning process and their social life. Patients with NF1 were distinctly ineffective in interpersonal communications and establishing relations in the peer group as well as following the rules of social convention.

CONCLUSIONS
The results of our study suggest that social cognition deficits, are responsible for socio-emotional status of patients with NF1. Draft recommendations for diagnosis of specific emotional problems typical for NF1 and program of social development stimulation in NF1 will be presented and discussed.
NFS-16. NOVEL AUSTRIAN CARE AND PREVENTION GUIDE FOR CHILDREN AND ADOLESCENTS WITH NF1
Authors: Azizi Amedeo A , Baumgartner Alicia-Christina , Hedrich Cora , Seidl Markus , Zobel Joachim , Ebetsberger-Dachs Georg , Zellner Herta , Rauscher Christian , Birnbacher Robert , Pichler Ursula , Haberlandt Edda , Bergmeister-Berghoff Anna Sophie , Gruber Robert , Welponer Tobias , Hutterer Markus , Pletschko Thomas , Krottendorfer Kerstin , Röhl Claas 
Published: June 2024

Abstract

BACKGROUND
Unified strategies for the care of children and adolescents affected by Neurofibromatosis type 1 (NF1) are lacking in Europe. While ERN GENTURIS developed guidelines for the tumour surveillance and management in NF1, these recommendations do not cover all other aspects of the disease. This holds not only true on an international level, but also on the national level in Austria. Despite being a small country with a uniform health and social security system, approaches to patient care may be comparable but not identical.

AIM
In order to standardise and improve patient care for children with NF1 in Austria, a care and prevention sheet was developed.

METHODS
In close cooperation with the Austrian patient organisation NF Kinder the Austrian NF network was established. This network is composed of dedicated health-care providers (medical as well as psychosocial) involved in the care of patients with NF1 in ten Austrian centres as well as patient representatives, some of whom were also involved in drafting the novel ERN GENTURIS recommendations. This network undertook the task of reviewing existing guidelines and incorporate the national healthcare structure and best practice guidelines into a consensus document.

RESULTS
The recommendations were condensed into a single sheet that is divided in four sections: clinical examination, lab investigations, imaging, additional consultations. For each parameter, the document advises on the age specific intervals for screening. Furthermore, it indicates the appropriate time points during follow-up (e.g. at initial presentation, at transition, if clinically indicated, …). The recommendations thereby focus not only on the inherent tumour risk but address the broad spectrum of possible symptoms (such as orthopaedic or surgical), specifically emphasising also psychosocial and neurocognitive issues.

CONCLUSION
The novel Austrian care and prevention guide for children and adolescents with NF1 will facilitate uniform best practice care for affected kids on a national level
NFS-17. CORRELATIONS BETWEEN OPTICAL COHERENCE TOMOGRAPHY AND MAGNETIC RESONANCE IMAGING IN NEUROFIBROMATOSIS TYPE 1 – RELATED OPTIC PATHWAY GLIOMAS
Authors: Piccolo Gianluca , Luongo Ilaria , Parodi Costanza , Camicione Paola , Carlini Luca , Chelleri Cristina , Severino Maria Savina , Serafino Massimiliano , Molteni Marta , Striano Pasquale , Diana Maria Cristina 
Published: June 2024

Abstract

BACKGROUND
Optic pathway glioma (OPG) is a prevalent tumor affecting children with Neurofibromatosis type 1 (NF1), representing a diagnostic hallmark. OPGs, typically WHO grade 1 pilocytic astrocytomas, are characterized by an indolent course. Diagnosis and surveillance traditionally rely on Magnetic Resonance Imaging (MRI). Routine NF1 pediatric surveillance includes annual eye examinations, encompassing visual acuity (VA) and Optical Coherence Tomography (OCT), with MRI reserved for ophthalmological abnormalities. However, the precise correlation between altered OCT findings and OPG presence or size remains unclear, while the role of MRI in screening is contentious due to cost and anesthesia requirements.

METHODS
In this retrospective study, we sought to establish correlations between OCT changes and MRI-observed tumor volume in NF1-diagnosed children at a tertiary center. Clinical and ophthalmological data, including VA, fundoscopy, and OCT, were collected. Tumor volumes were assessed using the software Sophia DDMTM for Radiomics in two consecutive MRI scans in a randomly selected cohort of 50 untreated patients.

RESULTS
Among 409 NF1 patients, 132 (31%) were diagnosed with OPG (48% females = 64), revealing a significant association with plexiform neurofibroma (pNF) (p=0.03), thus indicating an elevated risk of concurrent tumor development. In the subcohort of patients in whom volumetric analysis was performed, the mean age at OPG diagnosis was 5.56 ± 3.59 years. While tumor volume on MRI correlated with VA (p=0.0007), OCT values did not: larger OPGs did not consistently result in thinner retinal nerve fiber layers, suggesting independence between OCT alterations and OPG size.

CONCLUSIONS
The observed lack of correlation among VA, retinal thickness (OCT), and tumor volume (MRI) underscores the importance of MRI as the gold standard for diagnosis. The strong association between pNFs and OPGs suggests considering whole-body MRI when an OPG is detected, facilitating comprehensive evaluation in NF1 patients.
NFS-30. ADJUVANT MEK INHIBITION TO PREVENT REBOUND GROWTH FOLLOWING PARTIAL RESECTION OF PLEXIFORM NEUROFIBROMAS
Authors: Chan Priya P , Hemenway Molly S , Sabus Ashley , Hrycaj Emily , Dahl Nathan A , Domeshek Leahthan F , French Brooke M , Foreman Nicholas K 
Published: June 2024

Abstract

BACKGROUND
Plexiform neurofibromas (PNs) are benign peripheral nerve sheath tumors that occur in patients with neurofibromatosis type I. These tumors can cause significant morbidity leading to functional impairment, pain, and disfigurement. Management of PNs is challenging. Complete surgical resection is often not possible due to tumor growth along vital structures, and rebound growth is frequently experienced following subtotal resection (STR) of PNs. The mitogen-activated protein kinase (MAPK) pathway has been implicated in the growth of PNs, and the use of MAPK enzyme (MEK1/2) inhibitors has been shown to be an effective therapy in the treatment of PNs. Herein, we described our institutional experience using a short course of adjuvant MEK1/2 inhibitors in the treatment of pediatric patients with PNs following STR to prevent rebound growth.

METHODS
A single-institution retrospective record review of pediatric patients who underwent STR of their PN.

RESULTS
A total of 35 patients with 39 separate PNs had STR of their PNs. Fourteen PNs were treated with resection alone and 25 PNs were treated with a six-month course of adjuvant MEK1/2 inhibitors following STR. The number of patients requiring additional treatment with surgical resection or medical therapy was 11 of 14 patients (79%) in the resection only group and 6 of 25 patients (24%) in the adjuvant MEK1/2 inhibitor group. The mean time to additional treatment for the resection only group was 22 months, and the mean follow-up time for patients receiving adjuvant MEK1/2 inhibition was 29 months. Skin rash was the most common adverse effect seen with adjuvant MEK1/2 inhibition, and one patient experienced a dose-limiting thrombus.

CONCLUSIONS
A short course of MEK1/2 inhibitors following STR of PNs is effective in the short-term in preventing rebound growth when compared to STR alone. Treatment is well tolerated and should be considered as adjuvant therapy in pediatric patients.
QOL-07. EFFICIENT NEUROPSYCHOLOGICAL ASSESSMENT IN PATIENTS WITH BRAIN TUMORS AND ACUTE LYMPHOBLASTIC LEUKEMIA
Authors: Hausmeister Ivana Kreft , Hafner Sandra Klašnja , Uršič Katarina , Gosar David , Kitanovski Lidija 
Published: June 2024

Abstract

BACKGROUND
Children treated for cancer may experience a decline in performance for a variety of reasons, one of which is the impact of treatment. Children treated for leukemias and brain tumours are at the highest risk of developing neurocognitive sequale (Daly and Brown, 2015).

METHODS
In our study we used Bayesian regression to identify assessment tools that would best predict the sequale of brain tumors (BT) and acute lymphoblastic leukemia (ALL) in children and adolescents. Using data from 15 patients with BT, 15 patients with (ALL) and 9 siblings controls we compared the predictive validity of the Wechsler Intelligence Scales for Children (WISC-V), Delis-Kaplan Executive Function System (D-KEFS), Continuous Performance Test (CPT-3), the Developmental Neuropsychological Assessment (NEPSY-II) and the parent and teacher report forms of the Achenbach Assessment System (ASEBA).

RESULTS
We found that the best predictors of ALL were d’ scores on the CPT (BF = 20.69, pd =.05) and CPT ommission scores (BF = 17.50, pd =.05), while the best predictor a BT was the WISC-IV Coding subtest (BF = 21.17, pd =.05) in addition to CPT omission scores (BF = 12.00, pd =.08) and HRT SD scores (BF = 11.91, pd =.08). CPT d’s scores were also predictive of Methotrexate treatment (MTX) (BF = 32.61, pd = 0.03), as were WISC-V Symbol Search scores (BF = 32.61, pd = 0.03) and the NEPSY-II Auditory Attention subtest (BF = 26.06, pd = 0.04). We also noted differential sensitivity of the ASEBA teacher report form for detecting deficits identified during the neuropsychological assessment.

CONCLUSIONS
We feel our findings will, together with previous meta-analyses, contribute to more efficient neuropsychological assessment in patients with BT and ALL. Neuropsychological asseessment is vital for identifying potential sequale of disease and treament in pediatric oncology.
QOL-17. LIFE AFTER PAEDIATRIC LOW-GRADE GLIOMA: THE SURVIVOR NARRATIVE. QUALITATIVE INTERVIEWS OF ADULT PLGG SURVIVORS
Authors: Green Katie L , Leyden Deirdre , Hargrave Darren , Bluebond-Langner Myra 
Published: June 2024

Abstract

BACKGROUND
Most patients with PLGG will survive, but long-lasting functional & Quality of Life (QOL) impairments can occur. No PLGG survivorship research has yet included individual survivor narratives. The true impact of the tumour & its treatment on lived experiences from the survivor perspective remains to be explored.

AIMS
To evaluate PLGG survivor narratives across a heterogeneous group of adult survivors atleast 5 years from PLGG treatment.

METHODS
An interview guide was created comprising topics around survivors’ past and present experiences and hopes for the future. Open-ended semi-structured interviews were completed with adult survivors diagnosed with PLGG at Great Ormond Street Hospital, UK, 1980-2005. Video interviews were completed on zoom with the same interviewer, and recordings dictated verbatim to transcripts for Framework Analysis(FA). The codebook for analysis was created according to prior literature & themes emerging within and across the transcripts.

RESULTS
10 of 26 (38%) eligible survivors (median age 21.5yrs) completed interviews 28-73 minutes long. Median duration 12 years from diagnosis (9-18yrs). FA comprised 18 codes categorised into 4 major themes: The Self, The Social World, Experiences Of A PLGG, & Survivorship. Interviews allowed novel identification that seizures universally contributed long-lasting trauma and mental health disturbance. They also demonstrated that personality, adaptation to a new normal, and both the social & practical support received significantly influenced the impact of objective functional deficits on perceived QOL.All 10 survivors directly reported considering themselves to continue to be functionally affected by their PLGG as an adult.

CONCLUSIONS
We provide novel first-hand accounts of adult PLGG survivors, representing an important first-attempt at incorporating the survivor narrative and lived experiences as a core component of the evaluation of PLGG survivor outcomes. The narrative accounts allowed us to gain a more in-depth understanding of life for PLGG survivors; and allowed identification of new themes and topics not identified by PedsQl or similar quantitative QOL instruments.
QOL-22. PARTICIPATION RESTRICTIONS IN DAILY LIVING ACTIVITIES IN CHILDHOOD CANCER SURVIVORS ACCORDING TO BODY COMPOSITON: A DOUBLE-CENTER STUDY
Authors: Tanrıverdi Müberra , Yıldırım Kardelen , Yılmaz Güleser Güney , Şahin Sedef , Çakır Fatma Betül 
Published: June 2024

Abstract

BACKGROUND
Impact of cancer and treatment adverse effects on daily living activities in childhood cancer survivors (CCS) are well known. In our study, we hypothesized that the participation in daily living activities is affected in CCS.

METHODS
Fifty-eight CCS (10.07±3.83 years) in the 3-97th percentile range were included in the study. Participation of CCS was evaluated by Pediatric Outcomes Data Collection Instrument (PODCI). Body compositions of CCS were grouped according to body mass index (BMI).

RESULTS
The mean z score was.64±3.22 and BMI was 17.76±3.56. The global functioning score was 80.25±15.23, upper extremity score was 86.52±12.09, transfer and basic mobility score was 92.17±10.95, sports and physical functioning score was 71.31±25.70, pain/comfort score was 72.37±23.31, and happiness score was 81.31±19.19 of PODCI. While there was no relation between PODCI global functioning score and age chemotherapy, surgery (p&gt;0.05); there was a significant relationship between PODCI global functioning score and gender, body mass index, radiotherapy (p&lt;0.05). The significant functional difference detected between these groups was in upper extremity, transfer basic mobility, happiness, and global functioning (p&lt;0.05). There were no differences between the sports and physical functioning and pain/comfort (p&gt;0.05) according to the BMI categories (underweight, normal/healthy, and overweight).

CONCLUSIONS
Survivors have participation restrictions in activities at earlier period of cessation of treatment. Patient-reported outcomes can be systematically assessed in CCS. We recommend that supportive interventions in terms of physical functioning and participation in daily living activities for CCS.
QOL-25. DETERMINING THE BURDEN OF SLEEP PATHOLOGY AMONG PEDIATRIC NEURO-ONCOLOGY PATIENTS
Authors: Yeh-Nayre Lanipua , Elster Jennifer , Sridhar Sunita , Paul Megan 
Published: June 2024

Abstract

BACKGROUND
Children with brain and spinal cord tumors are at higher risk for sleep disruption. The incidence and characteristics of sleep difficulties in this population is not well understood. Our aim is to use survey and chart review to retrospectively and prospectively evaluate the frequency, severity, and types of sleep difficulties experienced by pediatric patients who have brain and spine tumors.

METHODS
Pediatric patients with a diagnosis of a brain or spinal cord tumor and their parents were surveyed at three time points during routine visits with their neuro-oncology team. Parents and children completed the following self-reported standardized surveys: The San Diego Pediatric Sleep Survey (Child) and The San Diego Pediatric Sleep Survey (Parent).

RESULTS
Identified sleep disturbances include difficulty initiating sleep, excessive movement while asleep, increased incidence of nocturnal awakening, and snoring. We identified high rates of behavioral and environmental modifiers of sleep quality including sleeping in a shared bed with another family member and poor sleep hygiene.

CONCLUSIONS
Identification of sleep disruption and factors contributing to sleep difficulties in this high risk population will encourage proactive screening and recognition of these issues in future patients. Next steps include implementation of interventions such as referral to appropriate specialists, sleep hygiene modification, and parent/patient education. Early intervention may lead to overall improvement in quality of life and health, including increased academic success and job productivity in children and their caregivers.