Cancer Cell Cycle Group, Systems Oncology Program, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Cell Division and Cancer Group, Spanish National Cancer Research Centre (CNIO) Madrid, Madrid, Spain.
Nat Rev Genet. 2024 Dec;25(12):864-878. doi: 10.1038/s41576-024-00762-6. Epub 2024 Aug 21.
Mosaic variegated aneuploidy (MVA) is a rare condition in which abnormal chromosome counts (that is, aneuploidies), affecting different chromosomes in each cell (making it variegated) are found only in a certain number of cells (making it mosaic). MVA is characterized by various developmental defects and, despite its rarity, presents a unique clinical scenario to understand the consequences of chromosomal instability and copy number variation in humans. Research from patients with MVA, genetically engineered mouse models and functional cellular studies have found the genetic causes to be mutations in components of the spindle-assembly checkpoint as well as in related proteins involved in centrosome dynamics during mitosis. MVA is accompanied by tumour susceptibility (depending on the genetic basis) as well as cellular and systemic stress, including chronic immune response and the associated clinical implications.
嵌合体结构的非整倍体（Mosaic variegated aneuploidy，MVA）是一种罕见的病症，其异常染色体数量（即非整倍体）仅存在于一定数量的细胞中（使其呈现嵌合体结构），而不同细胞中的染色体计数（即非整倍体）则存在异常（使其呈现嵌合体结构）。MVA 的特征是存在多种发育缺陷，尽管其发病率较低，但为理解人类染色体不稳定性和拷贝数变异的后果提供了独特的临床情景。对 MVA 患者、基因工程小鼠模型和功能细胞研究的研究发现，遗传原因是纺锤体组装检查点组件以及参与有丝分裂中心体动力学的相关蛋白的突变。MVA 伴随着肿瘤易感性（取决于遗传基础）以及细胞和全身应激，包括慢性免疫反应及其相关的临床意义。
