Department of Pathology, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA.
Int J Mol Sci. 2023 Sep 17;24(18):14196. doi: 10.3390/ijms241814196.
Rhabdomyosarcoma (RMS) is the most common pediatric soft-tissue cancer with a survival rate below 27% for high-risk children despite aggressive multi-modal therapeutic interventions. After decades of research, no targeted therapies are currently available. Therapeutically targeting actin-binding proteins, although promising, has historically been challenging. Recent advances have made this possibility more salient, including our lab's identification of advillin (AVIL), a novel oncogenic actin-binding protein that plays a role in many cytoskeletal functions. AVIL is overexpressed in many RMS cell lines, patient-derived xenograft models, and a cohort of 30 clinical samples of both the alveolar (ARMS) and embryonal (ERMS) subtypes. Overexpression of AVIL in mesenchymal stem cells induces neoplastic transformation both in vitro and in vivo, and reversing overexpression through genetic modulation reverses the transformation. This suggests a critical role of AVIL in RMS tumorigenesis and maintenance. As an actin-binding protein, AVIL would not traditionally be considered a druggable target. This perspective will address the feasibility of targeting differentially expressed actin-binding proteins such as AVIL therapeutically, and how critical cell infrastructure can be damaged in a cancer-specific manner.
横纹肌肉瘤(RMS)是最常见的小儿软组织肿瘤,尽管采用了积极的多模式治疗干预措施,高危儿童的生存率仍低于 27%。经过几十年的研究,目前尚无靶向治疗方法。尽管靶向肌动蛋白结合蛋白具有很大的潜力,但在历史上一直具有挑战性。最近的进展使这种可能性更加明显,包括我们实验室鉴定的advillin(AVIL),一种新型致癌肌动蛋白结合蛋白,在许多细胞骨架功能中发挥作用。AVIL 在许多 RMS 细胞系、患者来源的异种移植模型以及 30 例肺泡(ARMS)和胚胎(ERMS)亚型的临床样本中过度表达。在间充质干细胞中过表达 AVIL 可在体外和体内诱导肿瘤转化,通过遗传调节逆转过表达可逆转转化。这表明 AVIL 在 RMS 肿瘤发生和维持中起关键作用。作为一种肌动蛋白结合蛋白,AVIL 传统上不被认为是一个可成药的靶点。这种观点将探讨靶向差异表达的肌动蛋白结合蛋白(如 AVIL)的治疗可行性,以及细胞基础设施如何以癌症特异性的方式受到损伤。