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Int. J. Mol. Sci. 2015, 16(7), 16176-16215; doi:10.3390/ijms160716176

Sequencing Overview of Ewing Sarcoma: A Journey across Genomic, Epigenomic and Transcriptomic Landscapes

1
Department of Pathology, Leiden University Medical Center, Leiden 2333 ZA, The Netherlands
2
Department of Molecular Cell Biology, Leiden University Medical Center, Leiden 2333 ZA, The Netherlands
*
Author to whom correspondence should be addressed.
Academic Editor: William Chi-shing Cho
Received: 8 June 2015 / Revised: 3 July 2015 / Accepted: 7 July 2015 / Published: 16 July 2015
(This article belongs to the Collection Feature Annual Reviews in Molecular Sciences)
View Full-Text   |   Download PDF [2280 KB, uploaded 16 July 2015]   |  

Abstract

Ewing sarcoma is an aggressive neoplasm occurring predominantly in adolescent Caucasians. At the genome level, a pathognomonic EWSR1-ETS translocation is present. The resulting fusion protein acts as a molecular driver in the tumor development and interferes, amongst others, with endogenous transcription and splicing. The Ewing sarcoma cell shows a poorly differentiated, stem-cell like phenotype. Consequently, the cellular origin of Ewing sarcoma is still a hot discussed topic. To further characterize Ewing sarcoma and to further elucidate the role of EWSR1-ETS fusion protein multiple genome, epigenome and transcriptome level studies were performed. In this review, the data from these studies were combined into a comprehensive overview. Presently, classical morphological predictive markers are used in the clinic and the therapy is dominantly based on systemic chemotherapy in combination with surgical interventions. Using sequencing, novel predictive markers and candidates for immuno- and targeted therapy were identified which were summarized in this review. View Full-Text
Keywords: bone neoplasm; bone tumor; Ewing sarcoma; soft tissue tumor; targeted therapy; epigenetics; micro-environment; immunotherapy; next generation sequencing; splicing bone neoplasm; bone tumor; Ewing sarcoma; soft tissue tumor; targeted therapy; epigenetics; micro-environment; immunotherapy; next generation sequencing; splicing
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Sand, L.G.L.; Szuhai, K.; Hogendoorn, P.C.W. Sequencing Overview of Ewing Sarcoma: A Journey across Genomic, Epigenomic and Transcriptomic Landscapes. Int. J. Mol. Sci. 2015, 16, 16176-16215.

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