Involvement of the PAX8/peroxisome proliferator-activated receptor γ rearrangement in follicular thyroid tumors
Involvement of the PAX8/peroxisome proliferator-activated receptor γ rearrangement in follicular thyroid tumors
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DOI：
10.1210/jc.2002-021690
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发表时间：
2003-09-01
影响因子：
5.8
通讯作者：
Zedenius, J
中科院分区：
文献类型：
--
作者：
Dwight, T;Thoppe, SR;Zedenius, J
最近，易位t（2;3）（q13;p25），涉及PAX 8和过氧化物酶体增殖物激活受体γ（PPARgamma）的融合，建议只出现在甲状腺滤泡癌。在这项研究中，分析了一组87例甲状腺肿瘤，以确定PAX 8/PPARgamma融合基因在这些肿瘤中的参与，并确定这种重排是否可用作甲状腺滤泡癌和腺瘤之间的鉴别诊断标志物。通过RTPCR、荧光原位杂交和/或Western分析，在34例滤泡性甲状腺癌中的10例（29%）和20例非典型滤泡性甲状腺腺瘤中的1例（5%）中检测到PAX 8/PPARgamma重排，但在研究的20例滤泡性甲状腺腺瘤或13例未分化甲状腺癌中均未检测到。此外，87例甲状腺肿瘤中有7例仅表现出PPARgamma的参与。我们的研究结果表明，PAX 8/PPARgamma经常发生在滤泡性甲状腺癌，这种重排的存在很可能被证明是高度提示恶性肿瘤。在未分化甲状腺癌组中PAX 8/PPARgamma重排的缺乏表明这些肿瘤中的致瘤途径可能与这种融合无关。此外，研究结果表明，其他重排，涉及PPARgamma和其他未知的基因，可能参与滤泡性甲状腺肿瘤的发生。
Recently, a translocation t(2;3)(q13;p25), involving the fusion of PAX8 and peroxisome proliferator-activated receptor gamma (PPARgamma) was suggested to arise only in follicular thyroid carcinomas. In this study, a group of 87 thyroid tumors were analyzed to determine the involvement of the PAX8/PPARgamma fusion gene in these tumors, and also to determine whether this rearrangement can be used as a diagnostic marker for the differentiation between follicular thyroid carcinoma and adenoma. The PAX8/PPARgamma rearrangement was detected by RTPCR, fluorescence in situ hybridization, and/or Western analysis in 10 of 34 (29%) follicular thyroid carcinomas and in one of 20 (5%) atypical follicular thyroid adenomas, but not in any of the 20 follicular thyroid adenomas or 13 anaplastic thyroid carcinomas studied. In addition, seven of the 87 thyroid tumors exhibited involvement of PPARgamma alone. Our findings suggest that PAX8/PPARgamma occurs frequently in follicular thyroid carcinomas, and the presence of this rearrangement is likely to prove highly suggestive of a malignant tumor. Lack of the PAX8/PPARgamma rearrangement in the anaplastic thyroid carcinoma group suggests that the tumorigenic pathway in these tumors is likely to be independent of this fusion. Furthermore, the results suggest that other rearrangements, involving PPARgamma and other unidentified genes, may be involved in follicular thyroid tumorigenesis.