外周血PTEN、RASSF1A甲基化及其mRNA表达与结节性甲状腺疾病的关系

乌云; 魏枫; 王朝霞; 李永超; 庞春艳

doi:10.3971/j.issn.1000-8578.2016.07.007

外周血PTEN、RASSF1A甲基化及其mRNA表达与结节性甲状腺疾病的关系

Relationship of Methylation Status and mRNA Expression of PTEN, RASSF1A in Peripheral Blood with Thyroid Nodule Disease

摘要

摘要:
目的探讨PTEN、RASSF1A基因启动子甲基化及其mRNA表达与结节性甲状腺疾病之间的关系。
方法选取46例结节性甲状腺肿、34例甲状腺腺瘤、24例甲状腺乳头状癌患者（甲癌）和30例健康体检者，利用甲基化特异性PCR检测外周血中PTEN、RASSF1A基因启动子区甲基化状态及利用反转录—多聚酶链反应法（RT-PCR）检测mRNA表达情况。
结果（1）腺瘤组和甲癌组中PTEN、RASSF1A甲基化率分别与对照组比较, 差异均有统计学意义（均P < 0.05）。（2）腺瘤组和甲癌组中PTEN、RASSF1A基因mRNA表达阳性率分别与对照组比较, 差异均有统计学意义（均P < 0.05）。（3）甲癌组中PTEN和RASSF1A基因甲基化率、mRNA表达与淋巴结转移有关（均P < 0.05），与年龄、性别、结节大小无关。
结论甲状腺肿瘤外周血中存在抑癌基因PTEN、RASSF1A高甲基化改变进而导致其功能失活，从而在甲状腺肿瘤的发生发展过程中发挥重要作用。

Abstract:
Objective To observe the methylation status and mRNA expression of PTEN, RASSF1A in the peripheral blood of thyroid nodule patients and to explore the relationship between these genes and the clinical characteristics.
Methods Methylation-specific PCR(MSP) was used to detect the hypermethylation status of PTEN, RASSF1A promoter in the peripheral blood from 46 cases of nodular goiter, 34 cases of thyroid adenoma, 24 cases of papillary thyroid carcinoma(PTC) and 30 healthy controls. The mRNA expression of PTEN and RASSF1A was tested by reverse-transcription polymerse chain reaction.
Results (1) The methylation rates of PTEN, RASSF1A between thyroid adenoma, PTC and normal controls had significant difference (P < 0.05). (2) The positive mRNA expression rates of PTEN and RASSF1A between thyroid adenoma, PTC and normal control had significant difference (P < 0.05). (3)The methylation status, mRNA expression of PTEN and RASSF1A in PTC were correlated with lymph node metastasis (P < 0.05), and were not correlated with age, gender, size of nodule.
Conclusion The hypermethylation, and hence functional inactivation of tumor suppressor genes PTEN, RASSF1A are common in peripheral blood of thyroid tumors, which play an important role during the occurrence and development of thyroid tumors.

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