Characterizing the Prevalence of ETMR by Molecular Signature

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Embryonal tumors with multilayered rosettes (ETMR)

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Embryonal tumor with multilayer rosettes (ETMR) is a rare and highly-aggressive CNS neoplasm which occurs almost exclusively in young children and is associated with an extremely poor prognosis. Due the tumor’s rarity, with less than 300 cases reported in the literature, the classification of this neoplasm as a distinct clinical entity has been an evolving process. Historically, the tumor that is now defined as ETMR was considered to belong to a heterogeneous group of tumors known as CNS-PNET. As a group, CNS-PNETs were believed to represent approximately 3-7% of all pediatric brain tumor cases and were characterized by primitive neuroepithelial cells with variable neuronal, glial, or ependymal differentiation. These tumors posed a significant diagnostic challenge due to lack of characteristic genetic or immunohistochemical markers.

Due to the rare nature of ETMR and its recent classification, most historical ETMR cases have likely been grouped with other embryonal tumors. As a result, the incidence and prevalence of ETMR are unknown. Clinical investigations of this tumor are under development and a better understanding of the prevalence of ETMR is necessary to ensure that these studies are feasibly designed in manner that allows for statistically significant data collection. Through this data-access project, we aim to characterize the prevalence of ETMR based on the molecular signature and phenotypic data of specimens contained within the CBTTC dataset.

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What are the goals of this project?

The goals of this project are to characterize prevalence of ETMR by molecular signature through a query of variant calls of somatic tumor data within the CBTTC dataset in CAVATICA, to characterize the prevalence of ETMR by a query of phenotypic data to identify institutional diagnoses consistent with ETMR, to characterize the prevalence of distinct molecular and phenotypic findings among ETMR specimens and to identify correlates between molecular and phenotypic findings in tumor specimens and patient outcomes

What is the impact of this project?

The data collected during this investigation will be used for shaping the study design of upcoming clinical investigations of ETMR.

Specimen Data

The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.

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