Walker Victoria, Jin Dexter X, Millis Sherri Z, Nasri Elham, Corao-Uribe Diana A, Tan Aik Choon, Fridley Brooke L, Chen James L, Seligson Nathan D
Department of Pharmacotherapy and Translational Research, The University of Florida, Jacksonville, FL, USA.
Foundation Medicine Inc, Cambridge, Massachusetts, USA.
Transl Oncol. 2023 Dec;38:101795. doi: 10.1016/j.tranon.2023.101795. Epub 2023 Oct 3.
EWSR1 fusions are highly promiscuous and are associated with unique malignancies, clinical phenotypes, and molecular subtypes. However, rare fusion partners (RFP) of EWSR1 has not been well described. Here, we conducted a cross-sectional, retrospective study of 1,140 unique tumors harboring EWSR1 fusions. We identified 64 unique fusion partners. RFPs were identified more often in adults than children. Alterations in cell cycle control and DNA damage response genes as driving the differences between fusion partners. Potentially clinically actionable genomic variants were more prevalent in tumors harboring RFP than common fusions. While the data presented here is limited, tumors harboring RFP of EWSR1 may represent molecularly distinct entities and may benefit from further molecular testing to identify targeted therapeutic options.
EWSR1融合具有高度的混杂性，与独特的恶性肿瘤、临床表型和分子亚型相关。然而，EWSR1的罕见融合伴侣（RFP）尚未得到充分描述。在此，我们对1140例携带EWSR1融合的独特肿瘤进行了一项横断面回顾性研究。我们鉴定出64种独特的融合伴侣。RFP在成人中比在儿童中更常被鉴定出来。细胞周期控制和DNA损伤反应基因的改变推动了融合伴侣之间的差异。具有潜在临床可操作的基因组变异在携带RFP的肿瘤中比常见融合更为普遍。虽然这里呈现的数据有限，但携带EWSR1的RFP的肿瘤可能代表分子上不同的实体，可能受益于进一步的分子检测以确定靶向治疗方案。
