使用他莫昔芬诱导的 PlpCre 对围产期或成年 NF1 进行失活,均可导致神经纤维瘤的形成。
Perinatal or adult Nf1 inactivation using tamoxifen-inducible PlpCre each cause neurofibroma formation.
机构信息
Cincinnati Children's Hospital Medical Center; Hoxworth Blood Center, University of Cincinnati, Cincinnati, Ohio, USA.
出版信息
Cancer Res. 2011 Jul 1;71(13):4675-85. doi: 10.1158/0008-5472.CAN-10-4558. Epub 2011 May 6.
Plexiform neurofibromas are peripheral nerve sheath tumors initiated by biallelic mutation of the NF1 tumor suppressor gene in the Schwann cell lineage. To understand whether neurofibroma formation is possible after birth, we induced Nf1 loss of function with an inducible proteolipid protein Cre allele. Perinatal loss of Nf1 resulted in the development of small plexiform neurofibromas late in life, whereas loss in adulthood caused large plexiform neurofibromas and morbidity beginning 4 months after onset of Nf1 loss. A conditional EGFP reporter allele identified cells showing recombination, including peripheral ganglia satellite cells, peripheral nerve S100β+ myelinating Schwann cells, and peripheral nerve p75+ cells. Neurofibromas contained cells with Remak bundle disruption but no recombination within GFAP+ nonmyelinating Schwann cells. Extramedullary lympho-hematopoietic expansion was also observed in PlpCre;Nf1fl/fl mice. These tumors contained EGFP+/Sca-1+ stromal cells among EGFP-negative lympho-hematopoietic cells indicating a noncell autonomous effect and unveiling a role of Nf1-deleted microenvironment on lympho-hematopoietic proliferation in vivo. Together these findings define a tumor suppressor role for Nf1 in the adult and narrow the range of potential neurofibroma-initiating cell populations.
丛状神经纤维瘤是由施万细胞谱系中 NF1 肿瘤抑制基因的双等位基因突变引发的周围神经鞘肿瘤。为了了解神经纤维瘤是否可能在出生后形成,我们使用诱导型蛋白脂质蛋白 Cre 等位基因诱导 Nf1 功能丧失。围产期 Nf1 的缺失导致生命后期小型丛状神经纤维瘤的发生,而成年期的缺失则导致大型丛状神经纤维瘤和发病,发病后 4 个月开始出现发病。条件性 EGFP 报告基因等位基因鉴定了发生重组的细胞,包括周围神经节卫星细胞、周围神经 S100β+髓鞘形成施万细胞和周围神经 p75+细胞。神经纤维瘤包含 Remak 束中断的细胞,但在 GFAP+非髓鞘形成施万细胞中没有重组。在 PlpCre;Nf1fl/fl 小鼠中还观察到骨髓外淋巴造血系统的扩张。这些肿瘤在 EGFP 阴性的淋巴造血细胞中含有 EGFP+/Sca-1+基质细胞,表明存在非细胞自主效应,并揭示了 Nf1 缺失的微环境对体内淋巴造血细胞增殖的作用。这些发现共同定义了 Nf1 在成年期的肿瘤抑制作用,并缩小了潜在的神经纤维瘤起始细胞群体的范围。