Wu Jianqiang, Williams Jon P, Rizvi Tilat A, Kordich Jennifer J, Witte David, Meijer Dies, Stemmer-Rachamimov Anat O, Cancelas Jose A, Ratner Nancy
Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Research Foundation, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
Cancer Cell. 2008 Feb;13(2):105-16. doi: 10.1016/j.ccr.2007.12.027.
Neurofibromatosis type 1 (Nf1) mutation predisposes to benign peripheral nerve (glial) tumors called neurofibromas. The point(s) in development when Nf1 loss promotes neurofibroma formation are unknown. We show that inactivation of Nf1 in the glial lineage in vitro at embryonic day 12.5 + 1, but not earlier (neural crest) or later (mature Schwann cell), results in colony-forming cells capable of multilineage differentiation. In vivo, inactivation of Nf1 using a DhhCre driver beginning at E12.5 elicits plexiform neurofibromas, dermal neurofibromas, and pigmentation. Tumor Schwann cells uniquely show biallelic Nf1 inactivation. Peripheral nerve and tumors contain transiently proliferating Schwann cells that lose axonal contact, providing insight into early neurofibroma formation. We suggest that timing of Nf1 mutation is critical for neurofibroma formation.
1型神经纤维瘤病(Nf1)突变易患一种名为神经纤维瘤的良性周围神经(神经胶质)肿瘤。Nf1缺失促进神经纤维瘤形成的发育阶段尚不清楚。我们发现,在胚胎第12.5天 + 1天体外使神经胶质谱系中的Nf1失活,但不是更早(神经嵴)或更晚(成熟雪旺细胞),会产生能够进行多谱系分化的集落形成细胞。在体内,从胚胎第12.5天开始使用DhhCre驱动使Nf1失活会引发丛状神经纤维瘤、皮肤神经纤维瘤和色素沉着。肿瘤雪旺细胞独特地表现出双等位基因Nf1失活。周围神经和肿瘤含有失去轴突接触的短暂增殖雪旺细胞,这为早期神经纤维瘤形成提供了见解。我们认为Nf1突变的时机对神经纤维瘤形成至关重要。
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