Ewing sarcoma—diagnosis, treatment, clinical challenges and future perspectives

SK Zöllner, JF Amatruda, S Bauer, S Collaud… - Journal of clinical …, 2021 - mdpi.com
Ewing sarcoma, a highly aggressive bone and soft-tissue cancer, is considered a prime
example of the paradigms of a translocation-positive sarcoma: a genetically rather simple …

Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor

SMA Islam, M Díaz-Gay, Y Wu, M Barnes, R Vangara… - Cell genomics, 2022 - cell.com
Mutational signature analysis is commonly performed in cancer genomic studies. Here, we
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …

Multimodal analysis of cell-free DNA whole-genome sequencing for pediatric cancers with low mutational burden

P Peneder, AM Stütz, D Surdez, M Krumbholz… - Nature …, 2021 - nature.com
Sequencing of cell-free DNA in the blood of cancer patients (liquid biopsy) provides
attractive opportunities for early diagnosis, assessment of treatment response, and minimally …

Genetic predisposition to solid pediatric cancers

M Capasso, A Montella, M Tirelli, T Maiorino… - Frontiers in …, 2020 - frontiersin.org
Progresses over the past years have extensively improved our capacity to use genome-
scale analyses—including high-density genoty** and exome and genome sequencing …

Orthotopic patient-derived xenografts of paediatric solid tumours

E Stewart, SM Federico, X Chen, AA Shelat, C Bradley… - Nature, 2017 - nature.com
Paediatric solid tumours arise from endodermal, ectodermal, or mesodermal lineages.
Although the overall survival of children with solid tumours is 75%, that of children with …

DNA methylation heterogeneity defines a disease spectrum in Ewing sarcoma

NC Sheffield, G Pierron, J Klughammer, P Datlinger… - Nature medicine, 2017 - nature.com
Developmental tumors in children and young adults carry few genetic alterations, yet they
have diverse clinical presentation. Focusing on Ewing sarcoma, we sought to establish the …

The ETS transcription factor ETV6 constrains the transcriptional activity of EWS–FLI to promote Ewing sarcoma

DY Lu, JM Ellegast, KN Ross, CF Malone, S Lin… - Nature Cell …, 2023 - nature.com
Transcription factors (TFs) are frequently mutated in cancer. Paediatric cancers exhibit few
mutations genome-wide but frequently harbour sentinel mutations that affect TFs, which …

TRIM8 modulates the EWS/FLI oncoprotein to promote survival in Ewing sarcoma

BKA Seong, NV Dharia, S Lin, KA Donovan, S Chong… - Cancer cell, 2021 - cell.com
Fusion-transcription factors (fusion-TFs) represent a class of driver oncoproteins that are
difficult to therapeutically target. Recently, protein degradation has emerged as a strategy to …

Detection of circulating tumour DNA is associated with inferior outcomes in Ewing sarcoma and osteosarcoma: a report from the Children's Oncology Group

DS Shulman, K Klega, A Imamovic-Tuco… - British journal of …, 2018 - nature.com
Background New prognostic markers are needed to identify patients with Ewing sarcoma
(EWS) and osteosarcoma unlikely to benefit from standard therapy. We describe the …

Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication

Y Liu, J Klein, R Bajpai, L Dong, Q Tran… - Nature …, 2023 - nature.com
Oncogenic fusions formed through chromosomal rearrangements are hallmarks of
childhood cancer that define cancer subtype, predict outcome, persist through treatment …