Low frequency of PAX8‐PPARγ rearrangement in follicular thyroid carcinomas in Japanese patients
Low frequency of PAX8‐PPARγ rearrangement in follicular thyroid carcinomas in Japanese patients
复制标题
日本滤泡性甲状腺癌中 PAX8-PPARγ 重排频率较低
DOI：
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发表时间：
2015
期刊：
影响因子：
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通讯作者：
R. Katoh,
中科院分区：
文献类型：
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作者：
Kunio Mochizuki;T. Kondo;Naoki Oishi;Ippei Tahara;Tomohiro Inoue;Kazunari Kasai;T. Nakazawa;T. Okamoto;N. Shibata;R. Katoh,
配对盒基因8（PAX 8）-过氧化物酶体增殖物激活受体-γ（PPARγ）基因融合在具有细胞遗传学可检测易位t（2;3）（q13;p25）的滤泡状甲状腺癌（FTC）中的发生率较高。这可能是滤泡癌的特异性分子标志物。在这项研究中，我们使用位于PPARγ外显子7和8的两个上游PAX 8引物和位于外显子1的下游引物，通过逆转录聚合酶链反应（RT-PCR）检测了来自日本患者的24份FTC样本中的PAX 8-PPARγ重排。在24个FTC中仅检测到1个融合基因（4%）。一例56岁男性的PAX 8-PPARγ重排FTC显示PAX 8外显子8和PPARγ外显子1之间的融合产物一致。经直接测序证实。该FTC在组织学上被包裹，由小梁和小滤泡组成，并且被肿瘤组织完全穿透包膜（微创型）。本研究中融合基因的频率远低于其他国家报告中指出的29-63%，表明日本患者的FTCs可能具有特殊的遗传背景，并且典型日本饮食中的高碘摄入量可能影响FTCs中融合基因的频率。
Paired‐box gene 8 (PAX8)‐peroxisome proliferator‐activated receptor‐γ (PPARγ) gene fusion has been identified at significant frequency in follicular thyroid carcinomas (FTCs) with cytogenetically detectable translocation t(2;3)(q13;p25). This represents a possible specific molecular marker for follicular carcinoma. In this study, we examined PAX8‐PPARγ rearrangement in 24 FTC samples from Japanese patients by reverse transcribed‐polymerase chain reaction (RT‐PCR) using two upstream PAX8 primers located in exons 7 and 8 and a downstream primer in exon 1 of PPARγ. The fusion gene was detected in only one of 24 FTCs (4%). The FTC with PAX8‐PPARγ rearrangement from a 56‐year‐old man showed a product consistent with fusion between exon 8 of PAX8 and exon 1 of PPARγ. It was confirmed by direct sequencing. This FTC was histologically encapsulated, composed of trabeculae and small follicles and had complete penetration of the capsule by tumor tissues (minimally invasive type). The frequency of the fusion gene in this study was much lower than the 29–63% noted in reports from other countries suggesting that FTCs in Japanese patients may have a special genetic background, and that the high iodine intake from a typical Japanese diet might influence the frequency of the fusion gene in FTCs.
影响因子：
5.8
作者：
Nikiforova, MN;Lynch, RA;Nikiforov, YE
通讯作者：
Nikiforov, YE