scholarly journals SWK-08. DELAYED DIAGNOSIS OF CENTRAL NERVOUS SYSTEM (CNS) TUMORS IN CHILDREN: PERSPECTIVE FROM THE FRONTLINE

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii466-iii466
Author(s):  
Manisha Jogendran ◽  
Rebecca Ronsley ◽  
Ran D Goldman ◽  
Sylvia Cheng

Abstract Delayed diagnosis of CNS tumors in children is well documented, partially due to challenges in recognizing rare diagnoses. Our objective was to describe Canadian family physicians’ attitudes and confidence in diagnosing and managing pediatric CNS tumors. A standardized questionnaire was administered at a Canadian national family physicians’ conference. Items were based on observations from our institutional study of prediagnostic symptomatic interval in pediatric CNS tumors. 449 surveys were completed. 302/443 (68%) physicians practice in cities. 153/447 (34%) report encountering parents that inquire about their children having brain tumors. 261/449 (58%) have not managed a pediatric brain tumor. 153/447 (34%) report they are not confident, 255/447 (57%) somewhat confident and 39/447 (9%) confident in managing a suspected brain tumor in a stable child. 259/447 (58%) would refer directly to a hospital/specialist. The reported median time for suspicion of a brain tumor was 8–14 days for children with vomiting and/or headache and 1 day for children with seizure and/or ataxia. 410/447 (97%) report not knowing any guidelines to help with management. 235/447 (53%) suggested barriers they experience to include 52/235 (22%) wait times for imaging/specialists, 37/235 (16%) geographical location of the child, 27/235 (12%) knowledge, 25/235 (11%) access to imaging/specialist, and 15/235 (6%) patient-related factors or system barriers, and 8/235 (3%) specialist attitudes. 68/235 (29%) identified no barriers in their practice. This study provides insight into family physicians’ perceived challenges and barriers in diagnosing and managing new suspected pediatric CNS tumors. Educational effort and overcoming systemic perceived barriers may increase physicians’ confidence.

Author(s):  
Emma J Verwaaijen ◽  
Coriene E Catsman-Berrevoets ◽  
Heleen Maurice-Stam ◽  
Arianne B Dessens ◽  
Richelle Waslander ◽  
...  

Abstract Introduction Pediatric brain tumor survivors (PBTS) experience disease- and treatment-related sequelae. We aimed to investigate the occurrence of participation limitations, impairments in functioning, fatigue, and the association between patient, tumor- and treatment-related factors and these outcomes. Methods Children (4-18 years) after treatment for a brain tumor between 2005-2014 at the Erasmus Medical Center, Rotterdam, the Netherlands, were eligible. The parent-reported Child and Family Follow-up Survey developed to measure participation and impairments in functioning in youth with acquired brain injury, was used. Fatigue was assessed using the Pediatric Quality of Life Inventory Multidimensional Fatigue Scale. Associations with patient, tumor- and treatment-related factors were explored using univariable analyses. Results Ninety-one PBTS (median age: 11.3 years [range: 9.5-14.1], time since treatment: 3.9 years [range: 4-6.2]) were included (response rate: 55%). Participation limitations were reported in 53% and were associated with impairments in functioning (15-67%) (p≤0.01) and fatigue (p≤0.03). Parent- and child-reported fatigue was increased compared to normative values (p=≤0.02). History of hydrocephalus was associated with increased fatigue (p≤0.04). Younger age at diagnosis and longer time since diagnosis were associated with impairments in functioning and cognitive fatigue (p=<0.05). Participation limitations, impairments in functioning and fatigue were similar in PBTS who were <3 or ≥3 years since completion of treatment. Conclusion More than half of PBTS reported limited participation ability, which is associated with impairments in functioning and fatigue. The complication hydrocephalus seems to lead to more fatigue. Participation limitations, impairments in functioning and fatigue appear not to diminish in the longer term.


2014 ◽  
Vol 16 (12) ◽  
pp. 1661-1668 ◽  
Author(s):  
Jack M. Su ◽  
Patrick Thompson ◽  
Adekunle Adesina ◽  
Xiao-Nan Li ◽  
Lindsay Kilburn ◽  
...  

2012 ◽  
Vol 224 (06) ◽  
Author(s):  
T Milde ◽  
M Zucknick ◽  
M Kool ◽  
A Korshunov ◽  
H Witt ◽  
...  

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Yiqun Zhang ◽  
Fengju Chen ◽  
Lawrence A. Donehower ◽  
Michael E. Scheurer ◽  
Chad J. Creighton

AbstractThe global impact of somatic structural variants (SSVs) on gene expression in pediatric brain tumors has not been thoroughly characterised. Here, using whole-genome and RNA sequencing from 854 tumors of more than 30 different types from the Children’s Brain Tumor Tissue Consortium, we report the altered expression of hundreds of genes in association with the presence of nearby SSV breakpoints. SSV-mediated expression changes involve gene fusions, altered cis-regulation, or gene disruption. SSVs considerably extend the numbers of patients with tumors somatically altered for critical pathways, including receptor tyrosine kinases (KRAS, MET, EGFR, NF1), Rb pathway (CDK4), TERT, MYC family (MYC, MYCN, MYB), and HIPPO (NF2). Compared to initial tumors, progressive or recurrent tumors involve a distinct set of SSV-gene associations. High overall SSV burden associates with TP53 mutations, histone H3.3 gene H3F3C mutations, and the transcription of DNA damage response genes. Compared to adult cancers, pediatric brain tumors would involve a different set of genes with SSV-altered cis-regulation. Our comprehensive and pan-histology genomic analyses reveal SSVs to play a major role in shaping the transcriptome of pediatric brain tumors.


2021 ◽  
Vol 37 (3) ◽  
pp. 204-206
Author(s):  
Carolina Nör ◽  
Vijay Ramaswamy

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