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BRAF V600E 阳性甲状腺乳头状癌(排除 TERT 和 TP53 突变共存):临床病理特征与手术治疗范围及其并发症的相关性

BRAF V600E positive papillary thyroid carcinoma (TERT and TP53 mutation coexistence excluded): Correlation of clinicopathological features and the extent of surgical treatment and its complications.

作者信息

Hlozek Jiri, Rotnagl Jan, Holy Richard, Hlozkova Tereza, Pekova Bulanova Barbora, Kuklikova Vlasta, Bendlova Bela, Soukup Jiri, Hrabal Petr, Astl Jaromir

机构信息

Military University Hospital Prague, Department of Otorhinolaryngology and Maxillofacial Surgery, Prague, Czech Republic.

Charles University, Third Faculty of Medicine, Prague, Czech Republic.

出版信息

J Appl Biomed. 2024 Dec;22(4):214-220. doi: 10.32725/jab.2024.025. Epub 2024 Dec 9.

Abstract

INTRODUCTION

Papillary thyroid carcinoma (PTC) frequently harbors the BRAF V600E mutation. Recent research suggests that aggressive behavior in BRAF V600E+ PTC may be due to an undetected mutation in the TERT gene. This study aims to observe the clinicopathological features of BRAF V600+ PTC and correlate them with surgical treatment complications.

METHODS

A retrospective analysis was conducted on the BRAF V600E+ PTC cohort from July 2019 to January 2023. The histopathological features and surgical treatment (total thyroidectomy - group A, total thyroidectomy + central block neck dissection - group B) complications were correlated. Patients with TERT and TP53 mutation were excluded. Next-generation sequencing and real-time PCR were used for genetic analysis.

RESULTS

Out of 121 PTCs, 65 cases showed BRAF V600E mutation with the following features: intracapsular spread (13.8%), extracapsular spread (27.7%), extrathyroidal spread (15.4%), multifocality (26.2%), angioinvasion (12.3%), and local metastasis (27.7%). The incidence of surgical complications in group A/B was: reversible recurrent laryngeal nerve (RLN) paresis 3.7/7.1%, RLN paresis permanent 0/2.4%, paresthesia 6.8/23.8%, hypocalcemia 36.4/61.9% on day 1 and 27.3/33.3% on day 3, and bleeding 2.3/9.5%. There was no significant difference in clinicopathological features between the BRAF V600E+ and BRAF V600E- PTC groups. Group B had a significantly higher incidence of hypoacalcaemia on postoperative day 1 (p = 0.047).

CONCLUSION

The BRAF V600E mutation will certainly remain important in the preoperative diagnosis of PTC. The more radical surgical procedures currently recommended may be abandoned in the future, particularly elective CLND, which has a higher risk of postoperative complications.

摘要

引言

甲状腺乳头状癌(PTC)常伴有BRAF V600E突变。最近的研究表明,BRAF V600E阳性PTC的侵袭性行为可能归因于TERT基因中未检测到的突变。本研究旨在观察BRAF V600阳性PTC的临床病理特征,并将其与手术治疗并发症相关联。

方法

对2019年7月至2023年1月的BRAF V600E阳性PTC队列进行回顾性分析。将组织病理学特征与手术治疗(全甲状腺切除术 - A组,全甲状腺切除术 + 中央区颈淋巴结清扫术 - B组)并发症相关联。排除TERT和TP53突变的患者。采用二代测序和实时聚合酶链反应进行基因分析。

结果

在121例PTC中,65例显示BRAF V600E突变,具有以下特征:包膜内扩散(13.8%)、包膜外扩散(27.7%)、甲状腺外扩散(15.4%)、多灶性(26.2%)、血管侵犯(12.3%)和局部转移(27.7%)。A/B组手术并发症的发生率为:可逆性喉返神经(RLN)麻痹3.7/7.1%,永久性RLN麻痹0/2.4%,感觉异常6.8/23.8%,术后第1天低钙血症36.4/61.9%,术后第3天27.3/33.3%,出血2.3/9.5%。BRAF V600E阳性和BRAF V600E阴性PTC组的临床病理特征无显著差异。B组术后第1天低钙血症的发生率显著更高(p = 0.047)。

结论

BRAF V600E突变在PTC的术前诊断中肯定仍将具有重要意义。目前推荐的更激进的手术方式未来可能会被摒弃,尤其是选择性中央区颈淋巴结清扫术,其术后并发症风险更高。

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