Abstract
Embryonal tumors (ET) of the central nervous system (CNS) in children encompass a wide clinical spectrum of aggressive malignancies. Until recently, the overlapping morphological features of these lesions posed a diagnostic challenge and undermined discovery of optimal treatment strategies. However, with the advances in genomic technology and the outpouring of biological data over the last decade, clear insights into the molecular heterogeneity of these tumors are now well delineated. The major subtypes of ETs of the CNS in children include medulloblastoma, atypical teratoid rhabdoid tumor (ATRT), and embryonal tumors with multilayered rosettes (ETMR), which are now biologically and clinically characterized as different entities. These important developments have paved the way for treatments guided by risk stratification as well as novel targeted therapies in efforts to improve survival and reduce treatment burden.
Highlights
Over the past decade, a surge genomic and epigenomic data on embryonal tumors of the central nervous system (CNS) in children has dramatically advanced the understanding of tumor biology, paving the way toward improved diagnostic, reclassification, and therapeutic approaches to these formidable malignancies [1]
The following section will discuss the major subtypes of pediatric embryonal tumors, which include MB, atypical teratoid/rhabdoid tumors (ATRT), and embryonal tumors with multilayered rosettes (ETMR), their molecular biology, and the insights it provides in developing targeted therapies
Varying molecular subgroups in ATRT were first identified by Birks et al, who showed high expression of bone morphologic protein (BMP) in a subgroup associated with shorter survival [81]
Summary
ETMR was first identified in 2009 as an aggressive embryonal tumor with a unique molecular phenotype occurring in younger children. It represents a PNET with ependymoblastic rosettes and neuropil-like areas containing neurocytes and ganglion cells [102]. ETMR can exhibit three distinct histological patterns: embryonal tumors with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL), and medulloepithelioma (MEPL). The uniform amplification of C19MC in these three distinct histologies has led to the grouping of ETANTR, EBL, and MEPL into a single diagnostic entity known as ETMR [103,104]
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