Comprehensive Molecular Analysis of Pediatric Thalamic tumors

Email Principal Investigator
Ongoing
Specimen
Medulloblastoma
HGG
(AT/RT)
LGG
Ganglioglioma
DIPG
Germinoma
NGGCTs

Supratentorial or Spinal Cord PNET

choroid plexus carcinoma

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Javad Nazarian PhD.jpg

Javad Nazarian

Children’s National Hospital
Washington, DC, USA

CBTN Specimen

48

CBTN Participants

Backer

Smashing Walnuts

About this

Project

Pediatric thalamic tumors are relatively rare cancers and are classified as either low grade gliomas (LGG) or high grade gliomas (HGG). Bilateral thalamic gliomas (BTG) are a particularly rare tumor in this group. Recent molecular studies and WHO classification places thalamic tumors in the category of midline gliomas such as diffuse intrinsic pontine gliomas (DIPGs). This new categorization has been mainly based on discoveries that show histone 3 mutations to drive both of these tumors types. Where recent studies have identified histone mutations associated with DIPGs, more research is required to provide a clear landscape of genomic aberrations associated with thalamic tumors. The goals of this project are to generate the comprehensive molecular profile specific to primary thalamic tumors and to validate genomic abnormalities using liquid biopsy and whole exome sequencing (DNA from blood samples). This project is a comprehensive study of the biology of thalamic glioma and understanding its genetic background. This understanding could lead to more accurate diagnostics and more effective treatment options for patients. The Children's Brain Tumor Network contributed to this project by providing rare plasma samples, tumor tissue, tumor DNA, cerebral spinal fluid and germline DNA.

Ask The

Scientists

Ask the scientists

What are the goals of this project?

Recent studies have reclassified thalamic tumors as midline gliomas and this project seeks to further analyze genomics of these tumors in an effort to develop targeted therapies and test a new approach to diagnosis these tumors using a liquid biopsy which would be a less invasive diagnostic approach as opposed to surgery.

What is the impact of this project?

This research will expand upon recent insight into thalamic tumors in an effort to develop more accurate diagnostics and targeted treatment options.

Why is the CBTN request important to this project?

The samples needed to carry out this research are rare, which is why the Children’s Brain Tumor Networks contribution to this project is so important.

Specimen Data

The Children's Brain Tumor Network contributed to this project by providing plasma samples, tumor tissue, tumor DNA, cerebral spinal fluid and germline DNA.

related

Histologies

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Medulloblastoma

Medulloblastomas comprises the vast majority of pediatric embryonal tumors and by definition arise in the posterior fossa, where they constitute approximately 40% of all posterior fossa tumors. Other forms of embryonal tumors each make up 2% or less of all childhood brain tumors.The clinical feature

443
Participants
35
Projects Supported
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High-Grade Glioma

High-grade Gliomas (HGG) or astrocytomas in children nearly always result in a dismal prognosis. Although novel therapeutic approaches are currently in development, preclinical testing has been limited, due to a lack of pediatric-specific HGG preclinical models. These models are needed to help test

348
Participants
61
Projects Supported
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Atypical Teratoid/Rhabdoid Tumor

Central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT) is a very rare, fast-growing tumor of the brain and spinal cord. It usually occurs in children aged three years and younger, although it can occur in older children and adults. About half of these tumors form in the cerebellum or

100
Participants
13
Projects Supported
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Low-Grade Glioma

Low-Grade Gliomas also called astrocytomas are the most common cancer of the central nervous system in children. They represent a heterogeneous group of tumors that can be discovered anywhere within the brain or spinal cord. Although surgical resection may be curative, up to 20% of children still su

1003
Participants
23
Projects Supported
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Ganglioglioma

Ganglioglioma presents during childhood and into adulthood. It most commonly arises in the cerebral cortex and is associated with seizures, but also presents in other sites, including the spinal cord.[65,74]The unifying theme for the molecular pathogenesis of ganglioglioma is genomic alterations lea

185
Participants
7
Projects Supported
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Diffuse Intrinsic Pontine Glioma

A presumptive diagnosis of DIPG based on classic imaging features, in the absence of a histologic diagnosis, has been routinely employed. Increasingly however, histologic confirmation is obtained for both entry into research studies and molecular characterization of the tumor.[5] New approaches with

136
Participants
30
Projects Supported
Germinoma.png

Germinoma

Germinomas are the most common type of CNS germ cell tumor and have a good prognosis.Germ cells are special types of cells that are present as the fetus (unborn baby) develops. These cells usually become sperm in the testicles or unfertilized eggs in the ovaries as the child matures. Most germ cell

46
Participants
3
Projects Supported
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Nongerminomatous Germ Cell Tumors

Primary CNS GCTs are a heterogeneous group of neoplasms that are more common in Japan and other Asian countries than in North America and Europe. In North America, they account for approximately 4% of all primary brain tumors, with a peak incidence from age 10 years to age 19 years and a male predom

7
Participants
3
Projects Supported