Correlation between gene mutations and clinical characteristics in papillary thyroid cancer: a retrospective analysis of BRAF mutations and RET rearrangements.

IF 1.9 Q3 ENDOCRINOLOGY & METABOLISM Thyroid Research Pub Date : 2024-09-16 DOI:10.1186/s13044-024-00209-4
Daisuke Uno, Kazuhira Endo, Tomomi Yoshikawa, Nobuyuki Hirai, Eiji Kobayashi, Yosuke Nakanishi, Satoru Kondo, Tomokazu Yoshizaki
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Abstract

Introduction: Activation of the MAPK pathway by genetic mutations (such as BRAF and RET) initiates and accelerates the growth of papillary thyroid carcinoma (PTC). However, the correlation between genetic mutations and clinical features remains to be established. Therefore, this study aimed to retrospectively analyze major genetic mutations, specifically BRAF mutations and RET rearrangements, and develop a treatment algorithm by comparing background and clinical characteristics.

Method: One hundred thirteen patients with primary PTC were included in this study. BRAF mutations were detected via Sanger sequencing and RET rearrangements were detected via fluorescence in situ hybridization (FISH) analysis, and reverse transcription polymerase chain reaction (RT-PCR). The patients were categorized into two groups based on the presence of BRAF mutations and RET rearrangements and their clinical characteristics (age, sex, TNM, stage, extratumoral extension, tumor size, unifocal/multifocal lesions, vascular invasion, differentiation, chronic thyroiditis, preoperative serum thyroglobulin level, and 18F-fluorodeoxyglucose (FDG) uptake) were compared subsequently.

Result: After excluding unanalyzable specimens, 80 PTC patients (22 males and 58 females, mean age: 57.2 years) were included in the study. RET rearrangements were positive in 8 cases (10%), and BRAF mutation was positive in 63 (78.6%). The RET rearrangement group was significantly associated with younger age (p = 0.024), multifocal lesion (p = 0.048), distant metastasis (p = 0.025) and decreased 18F-fluorodeoxyglucose uptake (p < 0.001). The BRAF mutation group was significantly associated with unifocal lesions (p = 0.02) and increased 18F-FDG uptake (p = 0.004).

Conclusion: In this study, an increase in M classification cases was found in the RET rearrangements group. However, genetic mutations were not associated with the clinical stage, and no factors that could be incorporated into the treatment algorithm were identified.

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甲状腺乳头状癌基因突变与临床特征之间的相关性:对BRAF突变和RET重排的回顾性分析。
简介基因突变(如 BRAF 和 RET)激活了 MAPK 通路,启动并加速了甲状腺乳头状癌(PTC)的生长。然而,基因突变与临床特征之间的相关性仍有待确定。因此,本研究旨在回顾性分析主要基因突变,特别是BRAF突变和RET重排,并通过比较背景和临床特征制定治疗算法:本研究共纳入 113 例原发性 PTC 患者。通过桑格测序检测 BRAF 突变,通过荧光原位杂交(FISH)分析和反转录聚合酶链反应(RT-PCR)检测 RET 重排。根据 BRAF 基因突变和 RET 基因重排情况将患者分为两组,并比较两组患者的临床特征(年龄、性别、TNM、分期、瘤外扩展、肿瘤大小、单灶/多灶病变、血管侵犯、分化、慢性甲状腺炎、术前血清甲状腺球蛋白水平和 18F- 氟脱氧葡萄糖(FDG)摄取量):在排除了无法分析的标本后,80 例 PTC 患者(男 22 例,女 58 例,平均年龄 57.2 岁)被纳入研究范围。8例(10%)RET重排阳性,63例(78.6%)BRAF突变阳性。RET重排组与年轻(p = 0.024)、多灶性病变(p = 0.048)、远处转移(p = 0.025)和18F-氟脱氧葡萄糖摄取减少(p 18F-FDG uptake (p = 0.004))显著相关:本研究发现,RET重排组的M分类病例有所增加。然而,基因突变与临床分期无关,也未发现可纳入治疗算法的因素。
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来源期刊
Thyroid Research
Thyroid Research Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
3.10
自引率
4.50%
发文量
21
审稿时长
8 weeks
期刊最新文献
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