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Novel RET Proto-oncogene Variants Identified in Turkish Patients with Thyroid Carcinoma.

土耳其甲状腺癌患者中发现的新型 RET 原癌基因变异。

  • 影响因子:2.60
  • DOI:10.1016/j.gene.2020.144611
  • 作者列表:"Sengul T","Melek Y","Ayfer Kamali P","Esra T","Betul C","Ufuk K","Nurten K
  • 发表时间:2020-03-30

:Thyroid cancer is one of the few malignancies whose incidence is increasing in the last decades. Advances in understanding the molecular mechanisms lead to provide opportunity for prevention, effective early identification and targeted therapies for management. A total of 63 patients with participated in this study Genomic DNA samples were obtained from the samples formalin- embedded tissue and peripheral blood. Following polymerase chain reaction amplification of the 6 RET key exons (10, 11, 13, 14, 15, and 16) were applied and PCR products were subjected to next generation DNA sequencing (ABI 3730). Results revealed that; genotype frequencies were for rs1800961 (G>T) , GG 6 (%9.5), GT 17 (%27) TT40 (%63.5) for rs2472732 (G>A), GG31 (%49.2) GA29 (%46) AA3 (%4.8,) for rs1799939, (G>A) GG42 (%66.7) GA19 (%30.2) AA2 (%3.2), for rs1800962, (C>T) CC54 (%85.7) CT9 (%14.3), for rs1800863 (C>G), CC39 (%61.9) CG22 (%34.9) GG2 (%3.2), for rs3026272 (C>G) CC 13 (%20.6) CG 50 (%79.4). Additionally 15 potential novel genetic variants were identified in these key exons. Detailed information was given both known and new detected variants in supplementary table. Genetic variants distribution frequencies and new variants represented in Turkish thyroid cancer patients for RET proto-oncogene and that results would provide contribution to the literature.


: 甲状腺癌是过去几十年发病率不断上升的少数恶性肿瘤之一。了解分子机制的进展导致为预防、有效的早期识别和靶向治疗提供机会。共有 63 例参加本研究的患者从福尔马林包埋组织和外周血中获得基因组 DNA 样本。聚合酶链反应后,扩增 6 个 RET 关键外显子 (10 、 11 、 13 、 14 、 15 和 16) 应用 PCR 产物进行下一代 DNA 测序 (ABI 3730)。结果显示; 基因型频率分别为 rs1800961 (G>T) 、 GG 6 (% 9.5) 、 GT 17 (% 27) TT40 (% 63.5) 对于 rs2472732 (G>A),GG31 (% 49.2) GA29 (% 46) AA3 (% 4.8,) 对于 rs1799939,(G>A) GG42 (% 66.7) GA19 (% 30.2) AA2(% 3.2),对于 rs1800962,(C>T) CC54 (% 85.7) CT9 (% 14.3),对于 rs1800863 (C>G),CC39 (% 61.9) CG22 (% 34.9) GG2 (% 3.2),用于 rs3026272 (C>G) CC 13 (% 20.6) CG 50 (% 79.4)。此外,在这些关键外显子中发现了 15 个潜在的新遗传变异。在补充表中给出了已知和新检测到的变异的详细信息。土耳其甲状腺癌患者代表的 RET 原癌基因的遗传变异分布频率和新的变异,该结果将为文献提供贡献。



作者列表:["Travaglino A","Pace M","Varricchio S","Insabato L","Giordano C","Picardi M","Pane F","Staibano S","Mascolo M"]

METHODS:OBJECTIVES:To assess the prevalence of Hashimoto thyroiditis (HT) in primary thyroid lymphoma (PTL) and whether it differs between mucosa-associated lymphoid tissue (MALT) lymphoma and diffuse large B-cell lymphoma (DLBCL). METHODS:Electronic databases were searched for studies assessing HT prevalence in PTL, based on antithyroid antibodies, clinical history, or pathology. Pooled prevalence of HT and its association with histotype (MALT or DLBCL) were calculated. RESULTS:Thirty-eight studies with 1,346 PTLs were included. Pooled prevalence results were 78.9% (any HT evidence), 65.3% (antithyroid antibodies), 41.7% (clinical history), and 64% (pathology). HT prevalence was significantly higher in MALT lymphoma than in DLBCL (P = .007) and in mixed DLBCL/MALT than in pure DLBCL (P = .002). CONCLUSIONS:Overall, 78.9% of patients with PTL have any HT evidence, but only half of these had been clinically followed. The difference in HT prevalence suggests that a subset of DLBCL may not derive from MALT lymphoma.

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作者列表:["Lee, Inhwa","Kim, Hyeung Kyoo","Soh, Euy Young","Lee, Jeonghun"]

METHODS:Background Whether chronic lymphocytic thyroiditis (CLT) influences the risk of development and the progression of papillary thyroid cancer (PTC) remains uncertain. We investigated the effects of CLT on the clinicopathologic features and prognosis of PTC. Methods Two thousand nine hundred twenty-eight consecutive patients with PTC treated between 2009 and 2017 were divided into two groups: one with chronic lymphocytic thyroiditis and one without; 1174 (40%) of the patients had coincident CLT. Results In univariate analysis, CLT correlated positively with small tumor size, frequent extrathyroidal extension, multifocal diseases, and p53 but negatively with central lymph node (LN) metastasis and BRAF mutation. In multivariate analysis, CLT was associated with extrathyroidal extension and multifocal disease; however, it was not a prognostic factor for recurrence even though it was associated with two aggressive factors. Compared with patients with PTC alone, there were more retrieved central LNs in the PTC + CLT group, and these patients also underwent more invasive diagnostic tests such as fine needle aspiration cytology and frozen biopsy of LN. Conclusions The CLT patients with PTC had better behavior features and prognoses than did those with PTC alone despite frequent multifocality and extrathyroidal extension. However, precaution may be necessary to avoid performing invasive diagnostic procedures for lateral LN metastasis and to manage the patients appropriately.

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翻译标题与摘要 下载文献
作者列表:["Zhang Z","Xu T","Qin W","Huang B","Chen W","Li S","Li J"]

METHODS::PTPN2 is one of the members of the protein Tyrosine Phosphatases (PTPs) family. To explore the promotive effect of upregulated PTPN2 induced by inflammatory response or oxidative stress on the progression of thyroid cancer. PTPN2 level in thyroid cancer tissues and cell lines was detected. Kaplan-Meier method was applied for evaluating the prognostic value of PTPN2 in thyroid cancer patients. After stimulation of inflammatory response (treatment of IFN-γ and TNF-α), or oxidative stress (treatment of H2O2), protein level of PTPN2 in K1 cells was measured by Western blot. Regulatory effects of PTPN2 on EdU-positive staining and Ki-67 positive cell ratio in K1 cells either with H2O2 stimulation or not were determined. PTPN2 was upregulated in thyroid cancer tissues and cell lines. Its level was higher in metastatic thyroid cancer patients than those of non-metastatic ones. High level of PTPN2 predicted worse prognosis of thyroid cancer. Treatment of either IFN-γ or TNF-α upregulated protein level of PTPN2 in K1 cells. Meanwhile, H2O2 stimulation upregulated PTPN2, which was reversed by NAC administration. With the stimulation of increased doses of H2O2, EdU-positive staining and Ki-67 positive cell ratio were dose-dependently elevated. Silence of PTPN2 attenuated proliferative ability and Ki-67 expression in K1 cells either with H2O2 stimulation or not. Inflammatory response or oxidative stress induces upregulation of PTPN2, thus promoting the progression of thyroid cancer.

翻译标题与摘要 下载文献