Book/Journal Article

DKFZ-2026-02566

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Germline Variation and Somatic Alterations in Ewing Sarcoma.

Machiela, M. J. ; Grünewald, T. (Last author)DKFZ*

2027
Humana Press Totowa, NJ
ISBN: 978-1-0716-5586-3 (print), 978-1-0716-5587-0 (electronic)

Abstract: Ewing sarcoma (EwS) is a rare bone or soft tissue tumor that occurs early in life, suggesting genetic variation is likely a major contributor to EwS risk. To date, genetic investigations have identified key somatic mutations and germline variants of importance for EwS risk. While substantial progress has been made in uncovering the genetic etiology of EwS, considerable gaps in knowledge remain. Herein, we provide a summary of methodological approaches for future genomic investigations of EwS. We anticipate that this recommended analytical framework for germline and somatic investigations, along with genomic data from growing EwS case series, will aid in accelerating new genomic discoveries in EwS and expand knowledge of the genetic architecture of this aggressive sarcoma.

Keyword(s): Humans (MeSH) ; Sarcoma, Ewing: genetics (MeSH) ; Germ-Line Mutation (MeSH) ; Bone Neoplasms: genetics (MeSH) ; Genetic Predisposition to Disease (MeSH) ; Genomics: methods (MeSH) ; RNA-Binding Protein EWS: genetics (MeSH) ; Mutation (MeSH) ; Balanced/complex translocation ; EWSR1–FLI1 ; Ewing sarcoma ; Genetics ; Germline susceptibility ; Somatic mutations ; RNA-Binding Protein EWS

Note: #LA:B410# / #NCTZFB26# / First Online: 16 October 2026

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Contributing Institute(s):

1. Translationale Pädiatrische Sarkomforschung (B410)
2. Koordinierungsstelle NCT Heidelberg (HD02)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2026

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Database coverage:
; SCOPUS

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