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基因多态性在分化型甲状腺癌中的作用:2023年更新

The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update.

作者信息

Tiucă Robert Aurelian, Tiucă Oana Mirela, Pașcanu Ionela Maria

机构信息

Doctoral School of Medicine and Pharmacy, George Emil Palade University of Medicine, Pharmacy, Sciences and Technology of Targu Mures, 540142 Targu Mures, Romania.

Department of Endocrinology, George Emil Palade University of Medicine, Pharmacy, Sciences and Technology of Targu Mures, 540142 Targu Mures, Romania.

出版信息

Biomedicines. 2023 Apr 2;11(4):1075. doi: 10.3390/biomedicines11041075.

DOI:10.3390/biomedicines11041075
PMID:37189693
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10135953/
Abstract

Thyroid cancer is the most common endocrine malignancy, with an increasing trend in the past decades. It has a variety of different histological subtypes, the most frequent one being differentiated thyroid cancer, which refers to papillary carcinoma, the most common histological type, followed by follicular carcinoma. Associations between genetic polymorphisms and thyroid cancer have been investigated over the years and are an intriguing topic for the scientific world. To date, the results of associations of single nucleotide polymorphisms, the most common genetic variations in the genome, with thyroid cancer have been inconsistent, but many promising results could potentially influence future research toward developing new targeted therapies and new prognostic biomarkers, thus consolidating a more personalized management for these patients. This review focuses on emphasizing the existing literature data regarding genetic polymorphisms investigated for their potential association with differentiated thyroid cancer and highlights the opportunity of using genetic variations as biomarkers of diagnosis and prognosis for thyroid cancer patients.

摘要

甲状腺癌是最常见的内分泌系统恶性肿瘤,在过去几十年中呈上升趋势。它有多种不同的组织学亚型,最常见的是分化型甲状腺癌,其中包括最常见的组织学类型乳头状癌,其次是滤泡状癌。多年来,人们一直在研究基因多态性与甲状腺癌之间的关联,这是科学界一个引人入胜的话题。迄今为止,作为基因组中最常见的基因变异,单核苷酸多态性与甲状腺癌的关联研究结果并不一致,但许多有前景的结果可能会影响未来开发新的靶向治疗和新的预后生物标志物的研究,从而巩固对这些患者更个性化的管理。这篇综述着重强调了现有文献中关于基因多态性与分化型甲状腺癌潜在关联的研究数据,并突出了将基因变异用作甲状腺癌患者诊断和预后生物标志物的机会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a941/10135953/2ca687a5d981/biomedicines-11-01075-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a941/10135953/2ca687a5d981/biomedicines-11-01075-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a941/10135953/2ca687a5d981/biomedicines-11-01075-g001.jpg

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本文引用的文献

1
The Landscape of Single Nucleotide Polymorphisms in Papillary Thyroid Carcinoma.甲状腺乳头状癌中单核苷酸多态性的格局
Cancer Diagn Progn. 2023 Jan 3;3(1):26-30. doi: 10.21873/cdp.10175. eCollection 2023 Jan-Feb.
2
TSH-β gene polymorphism in Saudi patients with thyroid cancer: A case-control study.沙特甲状腺癌患者的促甲状腺激素β基因多态性:一项病例对照研究。
Saudi Pharm J. 2022 Nov;30(11):1538-1542. doi: 10.1016/j.jsps.2022.07.015. Epub 2022 Jul 29.
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SNP-Target Genes Interaction Perturbing the Cancer Risk in the Post-GWAS.全基因组关联研究后单核苷酸多态性-靶基因相互作用对癌症风险的影响
Cancers (Basel). 2022 Nov 17;14(22):5636. doi: 10.3390/cancers14225636.
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Analysis of Rare Alleles of and as a Prognostic Marker in Thyroid Cancer in Pakistani Population.巴基斯坦人群中甲状腺癌相关基因罕见等位基因作为预后标志物的分析
Diagnostics (Basel). 2022 Oct 15;12(10):2495. doi: 10.3390/diagnostics12102495.
5
Vitamin D Status and VDR Polymorphisms as Prognostic Factors in Differentiated Thyroid Carcinoma.维生素 D 状态和 VDR 多态性作为分化型甲状腺癌的预后因素。
In Vivo. 2022 Sep-Oct;36(5):2434-2441. doi: 10.21873/invivo.12977.
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Whole-exome sequencing identified mutational profiles of urothelial carcinoma post kidney transplantation.全外显子组测序鉴定了肾移植后尿路上皮癌的突变特征。
J Transl Med. 2022 Jul 21;20(1):324. doi: 10.1186/s12967-022-03522-4.
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Integrative analysis of genomic and transcriptomic alterations of and in cancer.癌症中 和 的基因组和转录组改变的综合分析。
Open Biol. 2022 Jul;12(7):220068. doi: 10.1098/rsob.220068. Epub 2022 Jul 13.
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Investigating the Association Between rs2439302 Polymorphism and Thyroid Cancer: A Systematic Review and Meta-Analysis.探究rs2439302基因多态性与甲状腺癌之间的关联:一项系统评价和荟萃分析
Front Surg. 2022 Apr 26;9:877206. doi: 10.3389/fsurg.2022.877206. eCollection 2022.
9
Genetic predisposition to papillary thyroid carcinoma is mediated by a long non-coding RNA TINCR enhancer polymorphism.甲状腺乳头状癌的遗传易感性是由长非编码 RNA TINCR 增强子多态性介导的。
Int Immunopharmacol. 2022 Aug;109:108796. doi: 10.1016/j.intimp.2022.108796. Epub 2022 Apr 27.
10
Papillary thyroid carcinoma as first and isolated neoplastic disease in a Lynch syndrome family member with a germline MLH1 mutation.在一名携带种系MLH1突变的林奇综合征家族成员中,甲状腺乳头状癌作为首例且唯一的肿瘤性疾病。
Endocrine. 2022 Jun;77(1):199-202. doi: 10.1007/s12020-022-03048-1. Epub 2022 Apr 12.