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BRAF V600E 突变与 ≤ 1.5 cm 的甲状腺乳头状癌的侵袭性特征相关。

BRAF V600E mutation is associated with aggressive features in papillary thyroid carcinomas ≤ 1.5 cm.

机构信息

Faculty of Medicine, McGill University, Montreal, QC, Canada.

Department of Otolaryngology-Head and Neck Surgery, McGill University, 3755 Chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1E2, Canada.

出版信息

J Otolaryngol Head Neck Surg. 2021 Nov 6;50(1):63. doi: 10.1186/s40463-021-00543-9.

Abstract

BACKGROUND

While some studies suggest that the BRAF V600E mutation correlates with a high-risk phenotype in papillary thyroid microcarcinoma (PTMC), more evidence is necessary before this mutation can be used to help guide decision making in the management of small thyroid nodules. This study investigated whether BRAF V600E mutation is associated with aggressive features in PTMC (≤ 1 cm) and small PTC (1-1.5 cm).

METHODS

Retrospective chart review was performed on 121 patient cases. Patients who underwent thyroid surgery for PTMC (≤ 1 cm) or small PTC (1-1.5 cm) were included if molecular testing was done for BRAF V600E mutation. Two study groups were created based on tumour size: PTMC (n = 55) and small PTC (n = 66). The groups were analysed for the presence of a BRAF V600E mutation and aggressive features, including macroscopic extrathyroidal extension (ETE), lymph node metastasis (LNM), and high-risk histological features (tall cell, columnar cell, hobnail, solid/trabecular, and diffuse sclerosing). The Fischer exact test was used to calculate statistical significance.

RESULTS

BRAF V600E mutations were detected in 43.6% of PTMC and 42.4% of small PTC. Of the mutated PTMC nodules, 54.1% demonstrated aggressive characteristics as compared to 19.4% of the non-mutated PTMCs (p = 0.010). Of the mutated small PTC tumours, 82.1% had aggressive features. In contrast, 28.9% of the non-mutated small PTCs showed aggressive features (p < 0.001).

CONCLUSIONS

Our findings demonstrate an association between a BRAF V600E mutation and aggressive features in PTMC (≤ 1 cm) and small PTC (1-1.5 cm). Therefore, determining the molecular status of these thyroid nodules for the presence of BRAF V600E can help guide patient management.

摘要

背景

虽然一些研究表明 BRAF V600E 突变与甲状腺微小乳头状癌(PTMC)的高危表型相关,但在该突变可用于帮助指导甲状腺小结节的管理决策之前,还需要更多的证据。本研究调查了 BRAF V600E 突变是否与 PTMC(≤1cm)和小 PTC(1-1.5cm)的侵袭性特征相关。

方法

对 121 例患者的病历进行回顾性分析。如果对 BRAF V600E 突变进行了分子检测,则将接受甲状腺手术治疗的 PTMC(≤1cm)或小 PTC(1-1.5cm)患者纳入研究。根据肿瘤大小创建了两个研究组:PTMC(n=55)和小 PTC(n=66)。分析两组是否存在 BRAF V600E 突变和侵袭性特征,包括肉眼甲状腺外扩展(ETE)、淋巴结转移(LNM)和高危组织学特征(高柱状细胞、柱状细胞、鞋钉状、实性/小梁状和弥漫性硬化)。Fisher 确切检验用于计算统计学意义。

结果

在 43.6%的 PTMC 和 42.4%的小 PTC 中检测到 BRAF V600E 突变。在突变的 PTMC 结节中,54.1%表现出侵袭性特征,而非突变的 PTMC 中只有 19.4%(p=0.010)。在突变的小 PTC 肿瘤中,82.1%有侵袭性特征。相比之下,非突变的小 PTC 中只有 28.9%表现出侵袭性特征(p<0.001)。

结论

我们的研究结果表明,BRAF V600E 突变与 PTMC(≤1cm)和小 PTC(1-1.5cm)的侵袭性特征相关。因此,确定这些甲状腺结节的分子状态是否存在 BRAF V600E 突变有助于指导患者的管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f367/8572458/f6726057ebbe/40463_2021_543_Fig1_HTML.jpg

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