用于探索突变的生物学后果和临床意义的小鼠模型。

Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia.

Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC 3010, Australia.

Biomolecules. 2019 Apr 23;9(4):158. doi: 10.3390/biom9040158.

The phosphatidylinositol 3-kinase (PI3K) pathway is involved in a myriad of cellular signalling pathways that regulate cell growth, metabolism, proliferation and survival. As a result, alterations in the PI3K pathway are frequently associated with human cancers. Indeed, -the gene encoding the p110α catalytic subunit of PI3K-is one of the most commonly mutated human oncogenes. mutations have also been implicated in non-malignant conditions including congenital overgrowth syndromes and vascular malformations. In order to study the role of mutations in driving tumorigenesis and tissue overgrowth and to test potential therapeutic interventions for these conditions, model systems are essential. In this review we discuss the various mouse models currently available for preclinical studies into the biological consequences and clinical significance of mutations.

磷脂酰肌醇 3-激酶（PI3K）途径参与调节细胞生长、代谢、增殖和存活的众多细胞信号通路。因此，PI3K 途径的改变通常与人类癌症有关。事实上，PI3K 的编码 p110α 催化亚基的基因是最常见的人类致癌基因之一。PI3K 突变也与非恶性疾病有关，包括先天性过度生长综合征和血管畸形。为了研究突变在驱动肿瘤发生和组织过度生长中的作用，并测试这些疾病的潜在治疗干预措施，模型系统是必不可少的。在这篇综述中，我们讨论了目前可用于临床前研究的各种小鼠模型，以研究突变的生物学后果和临床意义。