Division of Hematology-Oncology, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA; Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana, USA; Melvin and Bren Simon Comprehensive Cancer Center, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, USA; Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
J Invest Dermatol. 2023 Aug;143(8):1358-1368. doi: 10.1016/j.jid.2023.01.043. Epub 2023 May 27.
Cutaneous neurofibromas (cNFs) are the most common tumor in people with the rasopathy neurofibromatosis type 1. They number in hundreds or even thousands throughout the body, and currently, there are no effective interventions to prevent or treat these skin tumors. To facilitate the identification of novel and effective therapies, essential studies including a more refined understanding of cNF biology and the role of RAS signaling and downstream effector pathways responsible for cNF initiation, growth, and maintenance are needed. This review highlights the current state of knowledge of RAS signaling in cNF pathogenesis and therapeutic development for cNF treatment.
皮肤神经纤维瘤(cNFs)是 Rasopathy 神经纤维瘤病 1 型患者中最常见的肿瘤。它们在全身数量可达数百甚至数千个,目前尚无有效的干预措施来预防或治疗这些皮肤肿瘤。为了促进新型有效疗法的鉴定,需要进行必要的研究,包括更深入地了解 cNF 生物学以及 RAS 信号及其下游效应途径在 cNF 起始、生长和维持中的作用。本文综述了 RAS 信号在 cNF 发病机制和 cNF 治疗的治疗性开发中的研究现状。