该研究探索了髓母细胞瘤 (MB),特别是常见的第 4 组 (G4) MB 的起源,这是一种恶性小儿脑瘤。 研究人员发现,G4 MB 的发生与人类菱脑唇 (RL) 分化失败有关,这与小鼠等其他哺乳动物的发育过程存在差异。 遗传变异,例如影响 核心结合因子 alpha (CBFA) 复合物的突变和 OTX2 基因的表达改变,阻止了 RL 祖细胞的正常分化,导致 G4 MB 的形成。 这种对人类特有的 RL 扩展和祖细胞的易感性,表明了人类在进化过程中可能对这种癌症存在易感性。References: Hendrikse L D, Haldipur P, Saulnier O, et al. Failure of human rhombic lip differentiation underlies medulloblastoma formation[J]. Nature, 2022, 609(7929): 1021-1028.
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