The Molecular Landscape of Pediatric Brain Tumors in the Next-Generation Sequencing Era

Firme, Marlo; Marra, Marco A.

doi:10.1007/s11910-014-0474-4

Cited by 11 publications

(3 citation statements)

References 86 publications

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“…Interestingly, one particular study has been demonstrated that CSF-derived ctDNA can better reflect sequence mutations in driving genes when compared to plasma ctDNA [9]. Two new ways have been utilized to detect genetic mutations: droplet-digital PCR (ddPCR) and NGS [10][11][12]. One study has performed ddPCR with targeted amplican sequencing to search for mutations in CSF ctDNA of primary and metastatic brain tumor patients [13].…”

Section: Ctdnamentioning

confidence: 99%

Diagnosis of CNS Lesions by CSF

Shan¹,

Feng²

2022

Jap J Clin & Med Res

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CNS tumors include primary and metastatic neoplasms, which together account for about 1% of human body tumors. The fragile nature of brain and spinal cord parenchyma limits both diagnostic and therapeutic approaches. Fortunately, the recently developed liquid based biopsy (LBB) technique provide highly convenient, fast and less-invasive method to collect and test the potential biomarkers. Biomarkers derived from liquid biopsies can promptly reflect changes on the gene expression profile of tumors. Biomarker derived from tumor cells contain abundant genetic information, which may provide a strong basis for the diagnosis and the individualized treatment of brain tumor patients. CSF can be used as a resource of biomarkers, the sensitivity and specificity of CSF biomarkers of patients with brain tumor is typically higher than those detected in peripheral blood and other sources. This chapter reviews the current different biomarkers in CSF and their significance in brain tumor diagnosis and monitoring.

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Section: Ctdnamentioning

confidence: 99%

Diagnosis of CNS Lesions by CSF

Shan¹,

Feng²

2022

Jap J Clin & Med Res

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“…nucleolin, nestin, Ki67 and laminin subunit A2 ) as well as all major key players of the phosphoinositide 3-kinase pathway (seemingly implicated in ependymoma), were definitely detected. Pediatric brain tumors are a leading cause of cancer-related death in children (1). The application of high-throughput technologies (e.g.…”

Section: Abstract Background/aim: Proteomics Based On Highresolutionmentioning

confidence: 99%

Pediatric Ependymoma: A Proteomics Perspective

Tsangaris

Papathanasiou

Adamopoulos

et al. 2017

CGP

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“…Subsequent studies have confirmed PPM1D mutation frequencies of up to 9%–25% in DIPG. [ 6 , 8 , 9 , 10 ] PPM1D mutation is also related to the chemotherapy resistance of myeloid cancer. [ 11 ] We found that during clinical treatment, patients with brainstem glioma with PPM1D mutation have a shorter median survival time than PPM1D wild type patients.…”

Section: Introductionmentioning

confidence: 99%

Functionalized Macrophage Exosomes with Panobinostat and PPM1D‐siRNA for Diffuse Intrinsic Pontine Gliomas Therapy

et al. 2022

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Diffuse intrinsic pontine glioma (DIPG) is a rare and fatal pediatric brain tumor. Mutation of p53-induced protein phosphatase 1 (PPM1D) in DIPG cells promotes tumor cell proliferation, and inhibition of PPM1D expression in DIPG cells with PPM1D mutation effectively reduces the proliferation activity of tumor cells. Panobinostat effectively kills DIPG tumor cells, but its systemic toxicity and low blood-brain barrier (BBB) permeability limits its application.In this paper, a nano drug delivery system based on functionalized macrophage exosomes with panobinostat and PPM1D-siRNA for targeted therapy of DIPG with PPM1D mutation is prepared. The nano drug delivery system has higher drug delivery efficiency and better therapeutic effect than free drugs. In vivo and in vitro experimental results show that the nano drug delivery system can deliver panobinostat and siRNA across the BBB and achieve a targeted killing effect of DIPG tumor cells, resulting in the prolonged survival of orthotopic DIPG mice. This study provides new ideas for the delivery of small molecule drugs and gene drugs for DIPG therapy.

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The Molecular Landscape of Pediatric Brain Tumors in the Next-Generation Sequencing Era

Cited by 11 publications

References 86 publications

Diagnosis of CNS Lesions by CSF

Diagnosis of CNS Lesions by CSF

Pediatric Ependymoma: A Proteomics Perspective

Functionalized Macrophage Exosomes with Panobinostat and PPM1D‐siRNA for Diffuse Intrinsic Pontine Gliomas Therapy

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