当致病突变在后期胚胎发育中进入特定细胞谱系时，就会出现马赛克状态，而马赛克个体可能表现出广泛或局部表型。在这里，我们回顾了八个常见肿瘤抑制基因 - NF1、NF2、TSC1、TSC2、PTEN、VHL、RB1和TP53 - 以及它们相关的遗传综合症/实体的马赛克状态的当前研究现状。我们比较并讨论了全面诊断遗传检测、变异等位基因频率和疾病严重性的方法。我们还回顾了在传统基因分析后未确定基因突变的患者，以及每个肿瘤抑制基因在全杂合和马赛克患者中的基因型 -表型相关性和传播风险。这篇综述提供了新的见解，解析了这些肿瘤抑制综合症中关于马赛克状态的相似性和显著的差异。

A mosaic state arises when pathogenic variants are acquired in certain cell lineages during postzygotic development, and mosaic individuals may present with a generalized or localized phenotype. Here, we review the current state of knowledge regarding mosaicism for eight common tumor suppressor genes-NF1, NF2, TSC1, TSC2, PTEN, VHL, RB1, and TP53-and their related genetic syndromes/entities. We compare and discuss approaches for comprehensive diagnostic genetic testing, the spectrum of variant allele frequency, and disease severity. We also review affected individuals who have no mutation identified after conventional genetic analysis, as well as genotype-phenotype correlations and transmission risk for each tumor suppressor gene in full heterozygous and mosaic patients. This review provides new insight into similarities as well as marked differences regarding the appreciation of mosaicism in these tumor suppressor syndromes.