M Borowczyk, M Kaczmarek-Ryś, S Hryhorowicz, M Sypniewski, D Filipowicz, P Dobosz, M Oszywa, M Ruchała, K Ziemnicka
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引用次数: 0
摘要
目的：分化型甲状腺癌（DTC）是一项复杂的临床挑战，尤其是有远处转移和对标准治疗耐药的患者。本研究旨在探讨与炎症过程和其他肿瘤相关的特定基因及其种系单核苷酸多态性（SNPs）对 DTC 临床和病理特征的影响，尤其是对放射性碘（RAI）治疗效果的潜在影响：这项回顾性分析涉及甲状腺切除术后确诊为 DTC 的 646 例患者。研究涵盖 1998-2014 年，2023 年更新，包括 567 名女性和 79 名男性（中位年龄：49 岁；范围：7-83 岁）。SNP 的选择以功能意义为目标，而突变状态则通过热测序进行全面评估。评估了患者的遗传特征与疾病特征、RAI反应和癌症病理的关联：结果：某些 SNP 与 DTC 特征之间存在显著相关性。值得注意的是，NOD2 c.802 T > C 变异（rs2066842）被确定为区分甲状腺乳头状癌（PTC）和甲状腺滤泡状癌（FTC）的标志物。此外，c.802 T 等位基因与 RAI 治疗反应增强有关，表明治疗后刺激甲状腺球蛋白（sTg）浓度下降幅度更大。NFKB1A等位基因c.126A（rs696）表现出与较低的FTC阶段和较低的多灶性概率相关：本研究探讨了特定 SNPs 的分子机制，强调了 NOD2 在先天免疫和应激反应中的作用及其对 RAI 疗效的潜在影响。这项研究凸显了 SNP 分析的临床前景，有助于 DTC 的个性化治疗策略，强调了遗传因素在癌症进展和治疗结果中的相关性。
Germline polymorphisms of the NOD2 pathway may predict the effectiveness of radioiodine in differentiated thyroid cancer treatment.
Purpose: Differentiated thyroid cancer (DTC) presents a complex clinical challenge, especially in patients with distant metastases and resistance to standard treatments. This study aimed to investigate the influence of specific genes and their germline single nucleotide polymorphisms (SNPs) linked to both inflammatory processes and other neoplasms on the clinical and pathological characteristics of DTC, particularly their potential impact on radioiodine (RAI) treatment efficacy.
Methods: This retrospective analysis involved a cohort of 646 patients diagnosed with DTC after thyroidectomy. Study covering 1998-2014, updated in 2023, included 567 women and 79 men (median age: 49; range: 7-83). SNP selection targeted functional significance, while mutational status was assessed by pyrosequencing for comprehensive characterization. Patient genetic profiles were assessed for associations with disease characteristics, RAI response, and cancer pathology.
Results: Significant correlations emerged between certain SNPs and DTC features. Notably, the NOD2 c.802 T > C variant (rs2066842) was identified as a marker distinguishing between papillary thyroid cancer (PTC) and follicular thyroid cancer (FTC). Moreover, the c.802 T allele was associated with an enhanced response to RAI treatment, indicating a more substantial decrease in posttreatment stimulated thyroglobulin (sTg) concentrations. The NFKB1A allele c.126A (rs696) exhibited connections with lower FTC stages and a reduced probability of multifocality.
Conclusion: This study explored the molecular mechanisms of particular SNPs, highlighting the role of NOD2 in innate immunity and the stress response, and its potential impact on RAI efficacy. This research underscores the clinical promise of SNP analysis and contributes to personalized treatment strategies for DTC, emphasizing the relevance of genetic factors in cancer progression and treatment outcomes.
期刊介绍：
The Journal of Endocrinological Investigation is a well-established, e-only endocrine journal founded 36 years ago in 1978. It is the official journal of the Italian Society of Endocrinology (SIE), established in 1964. Other Italian societies in the endocrinology and metabolism field are affiliated to the journal: Italian Society of Andrology and Sexual Medicine, Italian Society of Obesity, Italian Society of Pediatric Endocrinology and Diabetology, Clinical Endocrinologists’ Association, Thyroid Association, Endocrine Surgical Units Association, Italian Society of Pharmacology.
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