Background: ABRAF V600Emutation in papillary thyroid cancer (PTC) has been shown to be associated with aggressive behavior. Nevertheless, not allBRAF V600EPTCs behave aggressively. Allele frequency (AF) is the number of mutated molecules divided by the total number of wild-type molecules at a specific location in the genome. The relationship betweenBRAF V600EAF and the histopathological features of thyroid malignancies is not well understood. We hypothesized that theBRAF V600EAF will correlate directly with aggressive histopathological behavior. The aim of this study was to examine this relationship. Methods: A retrospective chart review was performed for patients treated forBRAF V600Ethyroid malignancies from 2019 to 2022 at McGill University tertiary care hospitals (n= 317). Patients withBRAF V600E-positive malignancies that included information on AF were included (n= 44). The correlation between AF and tumor histopathological features was analyzed. Results: Out of the 44 nodules with aBRAF V600Emutation, those with aggressive features of PTC had a mean AF of 25.8%, which was significantly higher than the non-aggressive group with a mean AF of 10.25% (p= 0.020). Additionally, there was a statistically significant difference in mean AF between patients with a positive sentinel LN (29%) and those with a negative sentinel LN (17.8%) (p= 0.021). Classical PTC was present in 29.5% (13/44) of nodules, with a mean AF of 15.6%. The tall cell subtype was found in 64% (28/44) of nodules, with a mean AF of 23%. Solid and hobnail subtypes were less common in this study, and there was no statistically significant relationship between AF and histopathological subtypes (p= 0.107). Nodules smaller than 1cm had a mean AF of 13.3%, while nodules ranging from 1 2cm had a mean AF of 20.6%, and those larger than 2cm had a mean AF of 27.7%. However, no statistical difference was observed between AF and nodule size (p= 0.160). Conclusion: In this study,BRAF V600Emutations in conjunction with AF help to determine whether thyroid malignancies will display aggressive behavior. This pre-operative finding can help thyroid specialists to determine the extent of thyroidectomy and whether lymph node dissection is required.
背景：甲状腺乳头状癌（PTC）中的BRAF V600E突变已被证实与侵袭性行为相关。然而，并非所有携带BRAF V600E突变的PTC都具有侵袭性。等位基因频率（AF）是指基因组特定位置上突变分子数与野生型分子总数的比值。目前，BRAF V600E等位基因频率与甲状腺恶性肿瘤组织病理学特征之间的关系尚不明确。我们假设BRAF V600E等位基因频率与侵袭性组织病理学行为呈正相关。本研究旨在探讨这一关系。 方法：本研究对2019年至2022年间在麦吉尔大学附属三级医院接受治疗的BRAF V600E阳性甲状腺恶性肿瘤患者（n=317）进行了回顾性病历分析。最终纳入包含等位基因频率信息的BRAF V600E阳性恶性肿瘤患者（n=44）。分析等位基因频率与肿瘤组织病理学特征之间的相关性。 结果：在44个携带BRAF V600E突变的结节中，具有侵袭性特征的PTC结节平均等位基因频率为25.8%，显著高于非侵袭性组的平均等位基因频率10.25%（p=0.020）。此外，前哨淋巴结阳性患者的平均等位基因频率（29%）与阴性患者（17.8%）之间存在统计学显著差异（p=0.021）。经典型PTC占结节的29.5%（13/44），平均等位基因频率为15.6%；高细胞亚型占64%（28/44），平均等位基因频率为23%。实体型和鞋钉型亚型在本研究中较少见，等位基因频率与组织病理学亚型之间无统计学显著相关性（p=0.107）。小于1cm的结节平均等位基因频率为13.3%，1-2cm的结节为20.6%，大于2cm的结节为27.7%，但等位基因频率与结节大小之间未观察到统计学差异（p=0.160）。 结论：本研究表明，BRAF V600E突变结合等位基因频率有助于判断甲状腺恶性肿瘤是否具有侵袭性行为。这一术前发现可帮助甲状腺专科医生确定甲状腺切除范围以及是否需要淋巴结清扫。
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