Abdulhaleem Mawaddah, Bandargal Saruchi, Pusztaszeri Marc Philippe, Rajab Mohannad, Greenspoon Hannah, Krasner Joshua Ross, Da Silva Sabrina Daniela, Forest Véronique-Isabelle, Payne Richard J
Department of Otolaryngology-Head and Neck Surgery, McGill University, Royal Victoria Hospital, Montreal, QC H4A 3J1, Canada.
Department of Otolaryngology-Head and Neck Surgery, McGill University, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.
Cancers (Basel). 2023 Dec 25;16(1):113. doi: 10.3390/cancers16010113.
A mutation in papillary thyroid cancer (PTC) has been shown to be associated with aggressive behavior. Nevertheless, not all PTCs 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 between AF and the histopathological features of thyroid malignancies is not well understood. We hypothesized that the AF will correlate directly with aggressive histopathological behavior. The aim of this study was to examine this relationship.
A retrospective chart review was performed for patients treated for thyroid malignancies from 2019 to 2022 at McGill University tertiary care hospitals ( = 317). Patients with -positive malignancies that included information on AF were included ( = 44). The correlation between AF and tumor histopathological features was analyzed.
Out of the 44 nodules with a mutation, 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% ( = 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%) ( = 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 ( = 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 ( = 0.160).
In this study, mutations 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.
甲状腺乳头状癌（PTC）中的一种突变已被证明与侵袭性行为有关。然而，并非所有PTC都具有侵袭性。等位基因频率（AF）是指在基因组特定位置上突变分子的数量除以野生型分子的总数。AF与甲状腺恶性肿瘤组织病理学特征之间的关系尚不清楚。我们假设AF将与侵袭性组织病理学行为直接相关。本研究的目的是检验这种关系。
对2019年至2022年在麦吉尔大学三级护理医院接受甲状腺恶性肿瘤治疗的患者进行回顾性病历审查（n = 317）。纳入具有AF信息的BRAF阳性恶性肿瘤患者（n = 44）。分析AF与肿瘤组织病理学特征之间的相关性。
在44个具有BRAF突变的结节中，具有PTC侵袭性特征的结节平均AF为25.8%，显著高于非侵袭性组，其平均AF为10.25%（P = 0.020）。此外，前哨淋巴结阳性患者（29%）与前哨淋巴结阴性患者（17.8%）的平均AF存在统计学显著差异（P = 0.021）。经典型PTC存在于29.5%（13/44）的结节中，平均AF为15.6%。高细胞亚型见于64%（28/44）的结节中，平均AF为23%。实性和鞋钉样亚型在本研究中较少见，AF与组织病理学亚型之间无统计学显著关系（P = 0.107）。小于1cm的结节平均AF为13.3%，而1 - 2cm的结节平均AF为20.6%，大于2cm的结节平均AF为27.7%。然而，AF与结节大小之间未观察到统计学差异（P = 0.160）。
在本研究中，BRAF突变与AF共同有助于确定甲状腺恶性肿瘤是否会表现出侵袭性行为。这一术前发现有助于甲状腺专科医生确定甲状腺切除术的范围以及是否需要进行淋巴结清扫。
