NEUROFIBROMATOSIS TYPE-1 GENE-MUTATIONS IN NEUROBLASTOMA

被引:137
作者
THE, I
MURTHY, AE
HANNIGAN, GE
JACOBY, LB
MENON, AG
GUSELLA, JF
BERNARDS, A
机构
[1] MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET UNIT,MGH E,BLDG 149,13TH ST,BOSTON,MA 02129
[2] MASSACHUSETTS GEN HOSP,CTR CANC,BOSTON,MA 02129
关键词
D O I
10.1038/ng0193-62
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The introduction of human chromosome 17 suppresses the tumourigenicity of a neuroblastoma cell line in the absence of any effects on in vitro growth and the neurofibromatosis type 1 (NF1) gene may be responsible. Here we report that 4 out of 10 human neuroblastoma lines express little or no neurofibromin and that two of these lines show evidence of NF1 mutations, providing further proof that NF1 mutations occur in tumours that are not commonly found in NF1 patients. We also show that NF1 deficient neuroblastomas show only moderately elevated ras-GTP levels, in contrast to NF1 tumour cells, indicating that neurofibromin contributes differently to the negative regulation of ras in different cell types.
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收藏
页码:62 / 66
页数:5
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