Dilworth Joshua T, Kraniak Janice M, Wojtkowiak Jonathan W, Gibbs Richard A, Borch Richard F, Tainsky Michael A, Reiners John J, Mattingly Raymond R
Department of Pharmacology, Wayne State University, Detroit, MI, USA.
Biochem Pharmacol. 2006 Nov 30;72(11):1485-92. doi: 10.1016/j.bcp.2006.04.010. Epub 2006 Apr 28.
Neurofibromatosis type 1 (NF1) is the most common cancer predisposition syndrome. NF1 patients present with a constellation of clinical manifestations and have an increased risk of developing certain benign and malignant tumors. This disease results from mutation within the gene encoding neurofibromin, a GTPase activating protein (GAP) for Ras. Functional loss of this protein compromises Ras inactivation, which leads to the aberrant growth and proliferation of neural crest-derived cells and, ultimately, tumor formation. Current management of NF1-associated malignancy involves radiation, surgical excision, and cytotoxic drugs. The limited success of these strategies has fueled researchers to further elucidate the molecular changes that drive tumor formation and progression. This discussion will highlight how intracellular signaling molecules, cell-surface receptors, and the tumor microenvironment constitute potential therapeutic targets, which may be relevant not only to NF1-related malignancy but also to other human cancers.
1型神经纤维瘤病(NF1)是最常见的癌症易感综合征。NF1患者表现出一系列临床表现,患某些良性和恶性肿瘤的风险增加。这种疾病是由编码神经纤维瘤蛋白的基因突变引起的,神经纤维瘤蛋白是一种Ras的GTP酶激活蛋白(GAP)。该蛋白的功能丧失会损害Ras的失活,导致神经嵴衍生细胞异常生长和增殖,最终形成肿瘤。目前对NF1相关恶性肿瘤的治疗包括放疗、手术切除和细胞毒性药物。这些策略的有限成功促使研究人员进一步阐明驱动肿瘤形成和进展的分子变化。本讨论将重点介绍细胞内信号分子、细胞表面受体和肿瘤微环境如何构成潜在的治疗靶点,这些靶点可能不仅与NF1相关恶性肿瘤有关,也与其他人类癌症有关。