Kovar Heinrich, Amatruda James, Brunet Erika, Burdach Stefan, Cidre-Aranaz Florencia, de Alava Enrique, Dirksen Uta, van der Ent Wietske, Grohar Patrick, Grünewald Thomas G P, Helman Lee, Houghton Peter, Iljin Kristiina, Korsching Eberhard, Ladanyi Marc, Lawlor Elizabeth, Lessnick Stephen, Ludwig Joseph, Meltzer Paul, Metzler Markus, Mora Jaume, Moriggl Richard, Nakamura Takuro, Papamarkou Theodore, Radic Sarikas Branka, Rédini Francoise, Richter Guenther H S, Rossig Claudia, Schadler Keri, Schäfer Beat W, Scotlandi Katia, Sheffield Nathan C, Shelat Anang, Snaar-Jagalska Ewa, Sorensen Poul, Stegmaier Kimberly, Stewart Elizabeth, Sweet-Cordero Alejandro, Szuhai Karoly, Tirado Oscar M, Tirode Franck, Toretsky Jeffrey, Tsafou Kalliopi, Üren Aykut, Zinovyev Andrei, Delattre Olivier
Children's Cancer Research Institute, St. Anna Kinderkrebsforschung, Vienna, Austria.
Department of Pediatrics, Medical University Vienna, Vienna, Austria.
Oncotarget. 2016 Feb 23;7(8):8613-24. doi: 10.18632/oncotarget.6937.
Despite multimodal treatment, long term outcome for patients with Ewing sarcoma is still poor. The second "European interdisciplinary Ewing sarcoma research summit" assembled a large group of scientific experts in the field to discuss their latest unpublished findings on the way to the identification of novel therapeutic targets and strategies. Ewing sarcoma is characterized by a quiet genome with presence of an EWSR1-ETS gene rearrangement as the only and defining genetic aberration. RNA-sequencing of recently described Ewing-like sarcomas with variant translocations identified them as biologically distinct diseases. Various presentations adressed mechanisms of EWS-ETS fusion protein activities with a focus on EWS-FLI1. Data were presented shedding light on the molecular underpinnings of genetic permissiveness to this disease uncovering interaction of EWS-FLI1 with recently discovered susceptibility loci. Epigenetic context as a consequence of the interaction between the oncoprotein, cell type, developmental stage, and tissue microenvironment emerged as dominant theme in the discussion of the molecular pathogenesis and inter- and intra-tumor heterogeneity of Ewing sarcoma, and the difficulty to generate animal models faithfully recapitulating the human disease. The problem of preclinical development of biologically targeted therapeutics was discussed and promising perspectives were offered from the study of novel in vitro models. Finally, it was concluded that in order to facilitate rapid pre-clinical and clinical development of novel therapies in Ewing sarcoma, the community needs a platform to maintain knowledge of unpublished results, systems and models used in drug testing and to continue the open dialogue initiated at the first two Ewing sarcoma summits.
尽管采用了多模式治疗,但尤因肉瘤患者的长期预后仍然很差。第二届“欧洲尤因肉瘤跨学科研究峰会”汇聚了该领域的一大批科学专家,讨论他们在确定新治疗靶点和策略过程中最新未发表的研究结果。尤因肉瘤的特点是基因组较为稳定,唯一明确的基因畸变是存在EWSR1-ETS基因重排。对最近描述的具有变异易位的尤因样肉瘤进行RNA测序,发现它们是生物学上不同的疾病。各种报告探讨了EWS-ETS融合蛋白活性的机制,重点是EWS-FLI1。会上展示的数据揭示了该疾病遗传易感性的分子基础,发现EWS-FLI1与最近发现的易感基因座之间存在相互作用。在讨论尤因肉瘤的分子发病机制、肿瘤间和肿瘤内异质性以及难以建立忠实地再现人类疾病的动物模型时,由癌蛋白、细胞类型、发育阶段和组织微环境之间相互作用导致的表观遗传背景成为主导主题。会议讨论了生物靶向治疗药物临床前开发的问题,并从新型体外模型研究中提供了有前景的观点。最后得出结论,为了促进尤因肉瘤新疗法的快速临床前和临床开发,该领域需要一个平台来保存未发表结果、药物测试中使用的系统和模型的相关知识,并延续在前两届尤因肉瘤峰会开始的开放对话。