Infrequent mutation of APC, AXIN1, and GSK3B in human pituitary adenomas with abnormal accumulation of CTNNB1
Infrequent mutation of APC, AXIN1, and GSK3B in human pituitary adenomas with abnormal accumulation of CTNNB1
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DOI：
10.1007/s11060-004-4597-3
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发表时间：
2005-06
影响因子：
3.9
通讯作者：
Chunlan Sun;T. Yamato;E. Kondo;T. Furukawa;H. Ikeda;A. Horii
中科院分区：
文献类型：
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作者：
Chunlan Sun;T. Yamato;E. Kondo;T. Furukawa;H. Ikeda;A. Horii
我们分析了14例CTNNB 1异常核积聚的垂体腺瘤中APC、AXIN 1和GSK 3基因的突变。这些肿瘤没有携带CTNNB 1基因突变。分析的基因编码与泛素介导的CTNNB 1降解相关的蛋白质。虽然这些蛋白产物的功能域的编码区域进行了分析，没有发现显着的遗传变异。此外，APC的C-末端的抗体检测到APC蛋白在这些垂体腺瘤的正常表达。我们目前的研究结果表明，一个未知的机制（S）加速CTNNB 1的积累，在人类垂体腺瘤的发病机制中发挥重要作用。然而，不能排除我们调查之外的区域突变或表观遗传机制发挥重要作用的可能性。
We analyzed mutation of theAPC,AXIN1, andGSK3genes in 14 pituitary adenomas with abnormal nuclear accumulations of CTNNB1. These tumors did not harbor mutation of theCTNNB1gene. The genes analyzed encode proteins associated with ubiquitin-mediated degradation of CTNNB1. Although the regions encoding functional domains of these protein products were analyzed, no significant genetic alterations were found. Furthermore, the antibody for the C-terminus of APC detected normal expression of the APC protein in these pituitary adenomas. Our present results imply that an unknown mechanism(s) accelerates the accumulation of CTNNB1 that plays an important role in the pathogenesis of human pituitary adenomas. However, the possibility that mutation of regions outside of our survey or epigenetic mechanism play an important role cannot be excluded.