Identification of circulating noncoding RNAs and metabolites in cerebrospinal fluid(CSF) in medulloblastoma patients

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Ranjan Perera

Johns Hopkins Medicine
Baltimore, MD, USA

CBTN Samples Used


CBTN Participants


CBTN Samples


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About this


Medulloblastoma (MB) is the most common pediatric brain tumor arising in the cerebellum. MBs are classified as WHO grade IV tumors and are highly malignant tumors commonly metastasizing to sites in the surrounding brain and spinal cord regions via cerebrospinal fluid (CSF), and in rare cases of extraneural metastasis, to bone marrow, lymph nodes, etc. MBs represents 9.2% of pediatric brain tumors and has a propensity to affect younger male patients . Treatment options for MB patients depend upon several factors including, type, stage, and location of the tumor and overall patient health. Common treatment strategies include surgical removal, radiation therapy, chemotherapy, pharmacological treatment, and stem cell/bone marrow transplantation; however, side effects include neurocognitive impairment and endocrine disabilities among others. Despite advances in diagnostic and treatment options, MB remains a deadly brain tumor in children with and around 35-40% fatality in high-risk cases. Unfortunately, like many other cancers, accurate tumor detection, tumor metastasis, and drug resistance are a serious issue, and until today, no effective solutions are proposed to solve the above problems in MB.

Our primary focus of this proposal is to identify medulloblastoma group-specific molecular markers (noncoding RNAs and metabolites) in cerebrospinal fluid (CSF), which are useful in tumor-grading, metastasis and to monitor treatment efficacy. For this pilot study, we will use a group of five CSF samples to test circulating lncRNAs and metabolites. Though the qRT-PCR or ddPCR will be the preferred method for measuring the expression of lncRNAs in CSF, we will also apply a deep-sequencing based method Phospho-seq (EMBO J. 2019 Jun 3;38(11). pii: e101695. doi: 10.15252/embj.2019101695), and Mass Spec will be used to measure the global metabolites of these samples.

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What are the goals of this project?

The primary goal of this project is to confirm the expression of a group of previously identified lncRNAs and metabolites in medulloblastoma cerebrospinal fluid.

What is the impact of this project?

Based on our preliminary and unpublished results, we hypothesize that the systematic analysis of a group of circulating lncRNAs and metabolites in cerebrospinal fluid may generate potential diagnostic signatures for tumor sub-grouping, and monitoring metastasis in medulloblastoma patients.

The proposed studies will provide insights into novel molecular signatures (RNA and metabolites), to monitor the development and the metastasis of malignant medulloblastomas.

Why the CBTN request is important to this project?

We tried to secure samples from collaborators and other sources but until today, we have not been successful in securing CSF for our research. Out last resource is to contact CBTN.

Specimen Data

The Children's Brain Tumor Network contributed to this project by providing cerebral spinal fluid samples.