Krhin Blaz, Goricar Katja, Gazic Barbara, Dolzan Vita, Besic Nikola
Institute of Oncology Ljubljana, Slovenia.
Pharmacogenetics Laboratory, Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Slovenia.
Radiol Oncol. 2016 Jul 19;50(3):289-96. doi: 10.1515/raon-2016-0031. eCollection 2016 Sep 1.
Hurthle cells of the thyroid gland are very rich in mitochondria and oxidative enzymes. As a high level oxidative metabolism may lead to higher level of oxidative stress and can be associated with an increased risk for cancer, we investigated whether common functional polymorphisms in antioxidant genes (SOD2, CAT, GPX, GSTP1, GSTM1 and GSTT1) are associated with the development or clinical course of Hurthle cell thyroid carcinoma (HCTC).
A retrospective study was performed in 139 patients treated by thyroid surgery for a Hurthle cell neoplasm. HCTC, Hurthle cell thyroid adenoma (HCTA) or Hurthle cell thyroid nodule (HCTN) were diagnosed by pathomorphology. DNA was extracted from cores of histologically confirmed normal tissue obtained from formalin-fixed paraffin-embedded specimens and genotyped for investigated polymorphisms. Logistic regression was used to compare genotype distributions between patient groups.
HCTC, HCTA and HCTN were diagnosed in 53, 47 and 21 patients, respectively. Metastatic disease and recurrence of HCTC were diagnosed in 20 and 16 HCTC patients, respectively. Genotypes and allele frequencies of investigated polymorphisms did not deviate from Hardy-Weinberg equilibrium in patients with HCTC, HCTA and HCTN. Under the dominant genetic model we observed no differences in the genotype frequency distribution of the investigated polymorphisms when the HCTA and HCTN group was compared to the HCTC group for diagnosis of HCTC or for the presence of metastatic disease. However, GPX1 polymorphism was associated with the occurrence of recurrent disease (p = 0.040).
GPX1 polymorphism may influence the risk for recurrent disease in HCTC.
甲状腺嗜酸性细胞富含线粒体和氧化酶。由于高水平的氧化代谢可能导致更高水平的氧化应激，并可能与癌症风险增加相关，我们研究了抗氧化基因（SOD2、CAT、GPX、GSTP1、GSTM1和GSTT1）中的常见功能多态性是否与嗜酸性细胞甲状腺癌（HCTC）的发生或临床病程相关。
对139例接受甲状腺手术治疗嗜酸性细胞瘤的患者进行回顾性研究。通过病理形态学诊断HCTC、嗜酸性细胞甲状腺腺瘤（HCTA）或嗜酸性细胞甲状腺结节（HCTN）。从福尔马林固定石蜡包埋标本中获得的经组织学证实的正常组织核心中提取DNA，并对研究的多态性进行基因分型。使用逻辑回归比较患者组之间的基因型分布。
分别在53、47和21例患者中诊断出HCTC、HCTA和HCTN。分别在20例和16例HCTC患者中诊断出转移性疾病和HCTC复发。在HCTC、HCTA和HCTN患者中，研究的多态性的基因型和等位基因频率未偏离哈迪-温伯格平衡。在显性遗传模型下，当将HCTA和HCTN组与HCTC组进行比较以诊断HCTC或存在转移性疾病时，我们观察到研究的多态性的基因型频率分布没有差异。然而，GPX1多态性与复发性疾病的发生相关（p = 0.040）。
GPX1多态性可能影响HCTC复发性疾病的风险。
