An international multicenter survey reveals health care providers’ knowledge gap in childhood central nervous system tumors

Rajagopal, Revathi; Moreira, Daniel C.; Faughnan, Lane; Wang, Huiqi; Naqvi, Sameen; Krull, Lisa; Vásquez, Liliana; Diaz-Coronado, Rosdali; Terao, Michael; Devidas, Meenakshi; Qaddoumi, Ibrahim

doi:10.1007/s00431-022-04712-4

Cited by 7 publications

(5 citation statements)

References 26 publications

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“…[27][28][29] Lack of suspicion is frequent too. [30][31][32][33][34] Nevertheless, the time from symptoms to diagnosis in low-grade gliomas does not correlate with survival; in fact, it is indicative of a longer survival, which can be observed in this cohort. 35,36 Although the conventional use of MRI over CT scan has become the standard method of diagnosis, many health institutions have not made further use of spectroscopy or other new techniques due to availability, as some patients who are not in a stable condition may have to travel to undergo these tests.…”

Section: Discussionmentioning

confidence: 66%

“…Many factors have been identified regarding delayed diagnosis in low‐ and middle‐income countries, but even high‐income countries face this problem 27–29 . Lack of suspicion is frequent too 30–34 . Nevertheless, the time from symptoms to diagnosis in low‐grade gliomas does not correlate with survival; in fact, it is indicative of a longer survival, which can be observed in this cohort 35,36 …”

Section: Discussionmentioning

confidence: 73%

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Diffuse intrinsic pontine gliomas: First registry effort in Mexico

Robles‐Castro,

Niembro‐Zúñiga,

Ortiz‐Azpilcueta

et al. 2023

Pediatric Blood & Cancer

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Introduction Brainstem tumors comprise 10.9% of all brain tumors, and pediatric diffuse intrinsic pontine gliomas (DIPG) have a fatal prognosis. Some countries have developed national and international register databases to characterize their populations to aid clinical and public policy decisions. This study provides information regarding the clinical characteristics of a retrospective cohort of children with DIPG in México from 2001 to 2021, and assesses the proposed prognostic factors previously described for survival outcome. Methods Health institutions from Mexico were invited to contribute to a retrospective electronic registry of patients with DIPG based on the International DIPG Registry. Fisher's exact test was used to compare long‐ and short‐term survivors. Overall survival was estimated using the Kaplan–Meier method. Differences between survival curves were evaluated using the log‐rank test and Cox proportional hazard regression analysis. Results Total 110 patients were included. The median age of the patients at diagnosis was 7 years. Sixty patients (54.5%) presented with symptoms in less than 6 months; the most frequent symptom was ataxia (56.4%). Ninety patients received treatment (81.8%), the overall survival at 4 years was 11.4%, and 16 patients (14.5%) were admitted for palliative end‐of‐life care. We found no significant survival differences for any of the prognostic factors. Conclusion This study highlights the need to develop strategies to standardize healthcare processes and enhance the quality of care to improve clinical diagnosis in Mexico. We also observed a barrier to the acceptance of palliative end‐of‐life care in the family and medical teams.

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Section: Discussionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 73%

Diffuse intrinsic pontine gliomas: First registry effort in Mexico

Robles‐Castro,

Niembro‐Zúñiga,

Ortiz‐Azpilcueta

et al. 2023

Pediatric Blood & Cancer

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“…The importance of recognizing the educational gap in pediatric neuro-oncology among healthcare providers was described in a global cross-sectional survey demonstrating the importance of raising professional awareness on knowledge about clinical presentations of CNS tumors ( 41 ). Since 2020 an expert panel from Hospital Garrahan in Argentina aim to improved treatment in almost all centers in the country reaching to 96% of patients with brain tumors.…”

Section: Regional and International Interventionsmentioning

confidence: 99%

Pediatric neuro-oncology in Latin America and the Caribbean: a gap to be filled

Díaz-Coronado,

Villar,

Cappellano

2024

Front. Oncol.

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“…9,10 Central nervous system (CNS) cancer is the seventh most common tumor in adults and constitutes 25% of malignant tumors in children; it is also the second leading cause of cancer-related death in young people. 11,12 Brain tumors are the leading cause of epilepsy and the second most common histopathological diagnosis in the surgical specimens of patients with epilepsy. 13 Brain tumors that originate from the brain tissue are termed primary brain tumors (such as astrocytic tumors, oligodendroglial tumors, and glioneuronal tumors).…”

Section: Introductionmentioning

confidence: 99%

Multi‐omics technologies and molecular biomarkers in brain tumor‐related epilepsy

Du,

Li,

et al. 2024

CNS Neurosci Ther

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BackgroundBrain tumors are one of the leading causes of epilepsy, and brain tumor‐related epilepsy (BTRE) is recognized as the major cause of intractable epilepsy, resulting in huge treatment cost and burden to patients, their families, and society. Although optimal treatment regimens are available, the majority of patients with BTRE show poor resolution of symptoms. BTRE has a very complex and multifactorial etiology, which includes several influencing factors such as genetic and molecular biomarkers. Advances in multi‐omics technologies have enabled to elucidate the pathophysiological mechanisms and related biomarkers of BTRE. Here, we reviewed multi‐omics technology‐based research studies on BTRE published in the last few decades and discussed the present status, development, opportunities, challenges, and prospects in treating BTRE.MethodsFirst, we provided a general review of epilepsy, BTRE, and multi‐omics techniques. Next, we described the specific multi‐omics (including genomics, transcriptomics, epigenomics, proteomics, and metabolomics) techniques and related molecular biomarkers for BTRE. We then presented the associated pathogenetic mechanisms of BTRE. Finally, we discussed the development and application of novel omics techniques for diagnosing and treating BTRE.ResultsGenomics studies have shown that the BRAF gene plays a role in BTRE development. Furthermore, the BRAF V600E variant was found to induce epileptogenesis in the neuronal cell lineage and tumorigenesis in the glial cell lineage. Several genomics studies have linked IDH variants with glioma‐related epilepsy, and the overproduction of D2HG is considered to play a role in neuronal excitation that leads to seizure occurrence. The high expression level of Forkhead Box O4 (FOXO4) was associated with a reduced risk of epilepsy occurrence. In transcriptomics studies, VLGR1 was noted as a biomarker of epileptic onset in patients. Several miRNAs such as miR‐128 and miRNA‐196b participate in BTRE development. miR‐128 might be negatively associated with the possibility of tumor‐related epilepsy development. The lncRNA UBE2R2‐AS1 inhibits the growth and invasion of glioma cells and promotes apoptosis. Quantitative proteomics has been used to determine dynamic changes of protein acetylation in epileptic and non‐epileptic gliomas. In another proteomics study, a high expression of AQP‐4 was detected in the brain of GBM patients with seizures. By using quantitative RT‐PCR and immunohistochemistry assay, a study revealed that patients with astrocytomas and oligoastrocytomas showed high BCL2A1 expression and poor seizure control. By performing immunohistochemistry, several studies have reported the relationship between D2HG overproduction and seizure occurrence. Ki‐67 overexpression in WHO grade II gliomas was found to be associated with poor postoperative seizure control. According to metabolomics research, the PI3K/AKT/mTOR pathway is associated with the development of glioma‐related epileptogenesis. Another metabolomics study found that SV2A, P‐gb, and CAD65/67 have the potential to function as biomarkers for BTRE.ConclusionsBased on the synthesized information, this review provided new research perspectives and insights into the early diagnosis, etiological factors, and personalized treatment of BTRE.

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An international multicenter survey reveals health care providers’ knowledge gap in childhood central nervous system tumors

Cited by 7 publications

References 26 publications

Diffuse intrinsic pontine gliomas: First registry effort in Mexico

Diffuse intrinsic pontine gliomas: First registry effort in Mexico

Pediatric neuro-oncology in Latin America and the Caribbean: a gap to be filled

Multi‐omics technologies and molecular biomarkers in brain tumor‐related epilepsy

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