Brain Tumors in Children

Ghizoni, Enrico; Naccarato, Carolina Ribeiro Marques; Mathias, Roger Neves

doi:10.1007/978-3-030-17649-5_18

Cited by 2 publications

(4 citation statements)

References 9 publications

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“…Primary CNS tumors are the largest group of solid tumors occurring in children [ 1 – 3 ]. They are also associated with the highest rate of cancer-related deaths in children [ 2 , 4 , 5 ]. The overall incidence of cancer and brain tumors in 0–14-year-old children follows the same pattern in Qatar, as elsewhere [ 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

Presenting symptoms and time to diagnosis for Pediatric Central Nervous System Tumors in Qatar: a report from Pediatric Neuro-Oncology Service in Qatar

et al. 2020

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Introduction There are no previous published reports on primary pediatric tumors of the central nervous system (CNS) in Qatar. We undertook this retrospective cohort study to review the diagnosis of CNS tumors in children in Qatar to analyze the presentation characteristics including symptoms, referral pathways, and time to diagnosis. Methods All children registered with Pediatric Neuro-Oncology service (PNOS) were included in the study. Data from the time of diagnosis (October 2007 to February 2020) were reviewed retrospectively. Presenting symptoms were recorded and prediagnosis symptom interval (PSI) was calculated from the onset of the first symptom to the date of diagnostic imaging. Results Of the 61 children registered with PNOS during the study period, 51 were included in the final analysis. Ten children were excluded because they were either diagnosed outside Qatar (n = 7) or were asymptomatic at the time of diagnosis (n = 3). The median age was 45 (range 1-171) months. Common tumor types included low-grade glioma (LGG) (47.1%) and medulloblastoma/primitive neuroectodermal tumors (PNET) (23.5%). Nine children had an underlying neurocutaneous syndrome. Thirty-eight patients (74.5%) had at least one previous contact with healthcare (HC) professional, but 27 (52%) were still diagnosed through the emergency department (ED). Presenting symptoms included headache, vomiting (36.2%), oculo-visual symptoms (20.6%), motor weakness (18.9%), seizures, ataxia (17.2% each), irritability, cranial nerve palsies (12% each), and endocrine symptoms (10.3%). Median PSI was 28 days (range 1-845 days) for all CNS tumors. Longest PSI was seen with germ cell tumors (median 146 days), supratentorial location (39 days), and age above 3 years (30 days). Tumor characteristics of biological behavior (high-grade tumor) and location (infratentorial) were significantly associated with shorter PSI, as were presenting symptoms of ataxia, head tilt, and altered consciousness. Conclusions Although overall diagnostic times were acceptable, some tumor types were diagnosed after a significant delay. The awareness campaign, such as the "HeadSmart" campaign in the United Kingdom (UK), can improve diagnostic times in Qatar. Further research is required to better understand the reasons for the delay.

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Section: Introductionmentioning

confidence: 99%

Presenting symptoms and time to diagnosis for Pediatric Central Nervous System Tumors in Qatar: a report from Pediatric Neuro-Oncology Service in Qatar

et al. 2020

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“…For instance, anaplastic astrocytomas and diffuse astrocytomas are further classified into isocitrate dehydrogenease (IDH)-mutant, IDH wild-type and not otherwise specific categories. Additionally, low-grade gliomas (LGGs) are more prevalent than high-grade gliomas (HGGs) in the paediatric population [ 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

“…Paediatric low-grade gliomas (pLGGs) are slow-growing tumours and can be divided into primary glial tumours (astrocytoma and oligodendroglioma) and mixed glioneuronal tumours [ 4 , 5 , 6 ]. Astrocytomas, particularly pilocytic astrocytoma, are the most common type of pLGGs [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

“…For instance, some adult HGGs are transformed from LGGs, but this situation is infrequent in pHGGs [ 5 ]. Besides, molecular alterations in children with pHGGs are commonly associated with histone H3 mutations, whereas IDH mutations, PTEN loss, and EGFR amplifications are commonly found in adult HGG but rarely happen in pHGGs [ 4 , 24 ].…”

Section: Introductionmentioning

confidence: 99%

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Paediatric Gliomas: BRAF and Histone H3 as Biomarkers, Therapy and Perspective of Liquid Biopsies

Tan

Wijesinghe

Kamarudin

et al. 2021

Cancers

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Paediatric gliomas categorised as low- or high-grade vary markedly from their adult counterparts, and denoted as the second most prevalent childhood cancers after leukaemia. As compared to adult gliomas, the studies of diagnostic and prognostic biomarkers, as well as the development of therapy in paediatric gliomas, are still in their infancy. A body of evidence demonstrates that B-Raf Proto-Oncogene or V-Raf Murine Sarcoma Viral Oncogene Homolog B (BRAF) and histone H3 mutations are valuable biomarkers for paediatric low-grade gliomas (pLGGs) and high-grade gliomas (pHGGs). Various diagnostic methods involving fluorescence in situ hybridisation, whole-genomic sequencing, PCR, next-generation sequencing and NanoString are currently used for detecting BRAF and histone H3 mutations. Additionally, liquid biopsies are gaining popularity as an alternative to tumour materials in detecting these biomarkers, but still, they cannot fully replace solid biopsies due to several limitations. Although histone H3 mutations are reliable prognosis biomarkers in pHGGs, children with these mutations have a dismal prognosis. Conversely, the role of BRAF alterations as prognostic biomarkers in pLGGs is still in doubt due to contradictory findings. The BRAF V600E mutation is seen in the majority of pLGGs (as seen in pleomorphic xanthoastrocytoma and gangliomas). By contrast, the H3K27M mutation is found in the majority of paediatric diffuse intrinsic pontine glioma and other midline gliomas in pHGGs. pLGG patients with a BRAF V600E mutation often have a lower progression-free survival rate in comparison to wild-type pLGGs when treated with conventional therapies. BRAF inhibitors (Dabrafenib and Vemurafenib), however, show higher overall survival and tumour response in BRAF V600E mutated pLGGs than conventional therapies in some studies. To date, targeted therapy and precision medicine are promising avenues for paediatric gliomas with BRAF V600E and diffuse intrinsic pontine glioma with the H3K27M mutations. Given these shortcomings in the current treatments of paediatric gliomas, there is a dire need for novel therapies that yield a better therapeutic response. The present review discusses the diagnostic tools and the perspective of liquid biopsies in the detection of BRAF V600E and H3K27M mutations. An in-depth understanding of these biomarkers and the therapeutics associated with the respective challenges will bridge the gap between paediatric glioma patients and the development of effective therapies.

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Brain Tumors in Children

Cited by 2 publications

References 9 publications

Presenting symptoms and time to diagnosis for Pediatric Central Nervous System Tumors in Qatar: a report from Pediatric Neuro-Oncology Service in Qatar

Presenting symptoms and time to diagnosis for Pediatric Central Nervous System Tumors in Qatar: a report from Pediatric Neuro-Oncology Service in Qatar

Paediatric Gliomas: BRAF and Histone H3 as Biomarkers, Therapy and Perspective of Liquid Biopsies

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