Inserm U1151, Institut Necker Enfants Malades, Paris, France.
Université de Paris, Paris, France.
C R Biol. 2021 Jul 2;344(2):189-201. doi: 10.5802/crbiol.50.
This review recapitulates the recent knowledge accumulation on overgrowth syndrome related to gain of function of the phosphoinositide3 kinase (PI3K)-alpha. These disorders, known as PIK3CA related overgrowth syndromes (PROS) are caused by somatic PIK3CA mutation occurring during embryogenesis. We summarize here the currently available animal models and new treatments undergoing development.
这篇综述回顾了与磷酸肌醇 3-激酶（PI3K）-α功能获得相关的过度生长综合征的最新知识积累。这些疾病被称为 PIK3CA 相关过度生长综合征（PROS），是由胚胎发生过程中体细胞 PIK3CA 突变引起的。我们在这里总结了目前可用的动物模型和正在开发的新治疗方法。
