title: Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity.
abstract: Three histological variants are known within the family of embryonal rosette-forming neuroepithelial brain tumors. These include embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL), and medulloepithelioma (MEPL). In this study, we performed a comprehensive clinical, pathological, and molecular analysis of 97 cases of these rare brain neoplasms, including genome-wide DNA methylation and copy number profiling of 41 tumors. We identified uniform molecular signatures in all tumors irrespective of histological patterns, indicating that ETANTR, EBL, and MEPL comprise a single biological entity. As such, future WHO classification schemes should consider lumping these variants into a single diagnostic category, such as embryonal tumor with multilayered rosettes (ETMR). We recommend combined LIN28A immunohistochemistry and FISH analysis of the 19q13.42 locus for molecular diagnosis of this tumor category. Recognition of this distinct pediatric brain tumor entity based on the fact that the three histological variants are molecularly and clinically uniform will help to distinguish ETMR from other embryonal CNS tumors and to better understand the biology of these highly aggressive and therapy-resistant pediatric CNS malignancies, possibly leading to alternate treatment strategies.
authors: Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
authors: Andrey
authors: A
authors: Korshunov
authors: Dominik
authors: D
authors: Sturm
authors: Marina
authors: M
authors: Ryzhova
authors: Volker
authors: V
authors: Hovestadt
authors: Marco
authors: M
authors: Gessi
authors: David T W
authors: DT
authors: Jones
authors: Marc
authors: M
authors: Remke
authors: Paul
authors: P
authors: Northcott
authors: Arie
authors: A
authors: Perry
authors: Daniel
authors: D
authors: Picard
authors: Marc
authors: M
authors: Rosenblum
authors: Manila
authors: M
authors: Antonelli
authors: Eleonora
authors: E
authors: Aronica
authors: Ulrich
authors: U
authors: Schüller
authors: Martin
authors: M
authors: Hasselblatt
authors: Adelheid
authors: A
authors: Woehrer
authors: Olga
authors: O
authors: Zheludkova
authors: Ella
authors: E
authors: Kumirova
authors: Stephanie
authors: S
authors: Puget
authors: Michael D
authors: MD
authors: Taylor
authors: Felice
authors: F
authors: Giangaspero
authors: V
authors: V
authors: Peter Collins
authors: Andreas
authors: A
authors: von Deimling
authors: Peter
authors: P
authors: Lichter
authors: Annie
authors: A
authors: Huang
authors: Torsten
authors: T
authors: Pietsch
authors: Stefan M
authors: SM
authors: Pfister
authors: Marcel
authors: M
authors: Kool
mesh_terms: D001932:Brain Neoplasms / Q000145:classification / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19; D056915:DNA Copy Number Variations; D019175:DNA Methylation; D003937:Diagnosis, Differential; D005260:Female; D056426:Genetic Loci; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009364:Neoplasm Recurrence, Local; D009373:Neoplasms, Germ Cell and Embryonal / Q000145:classification / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D018242:Neuroectodermal Tumors, Primitive / Q000145:classification / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D016019:Survival Analysis