Sezer Havva, Uren Nihal, Yazici Dilek
Department of Endocrinology and Metabolism, Koc University Faculty of Medicine, Istanbul, Turkey.
Department of Medical Biology and Genetics, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.
North Clin Istanb. 2020 May 28;7(4):321-328. doi: 10.14744/nci.2020.69586. eCollection 2020.
In this study, we evaluated the influences of BRAF mutation on clinicopathological features in incidentally found papillary thyroid microcarcinomas (PTMCs).
This retrospective cohort study included 72 patients with PTMC who underwent surgery from 2008 to 2012. The mean follow-up of the whole cohort was three years. DNA was isolated using QIAamp DNA formalin-fixed, paraffin-embedded (FFPE) tissue kit. BRAF gene was amplified by the polymerase chain reaction-restriction fragment length (PCR-RFL) polymorphism method with the following primers. The clinicopathologic features (age, gender, histologic subtype, tumor size, presence of tumor capsule, bilaterality, multifocality, extrathyroidal extension (ETE), thyroid capsular invasion, presence of Hashimoto's thyroiditis, lymph node metastasis (LNM) and distant metastasis) were compared between the BRAF (+) and BRAF (-) patient groups.
BRAF mutation was detected in 30 of the 72 patients (41.6%). The presence of the mutation was statistically significantly associated with classic variant (p=0.046), invasion of thyroid capsule (p=0.002) and absence of tumor capsule (p=0.003).
Although incidental PTMCs positive for the BRAF mutation had more invasive behavior, the presence of the mutation was not associated with recurrences within three years of follow-up.
在本研究中,我们评估了BRAF突变对偶然发现的甲状腺微小乳头状癌(PTMC)临床病理特征的影响。
这项回顾性队列研究纳入了2008年至2012年接受手术的72例PTMC患者。整个队列的平均随访时间为三年。使用QIAamp DNA福尔马林固定石蜡包埋(FFPE)组织试剂盒分离DNA。采用聚合酶链反应-限制性片段长度多态性(PCR-RFL)方法,使用以下引物扩增BRAF基因。比较BRAF(+)和BRAF(-)患者组之间的临床病理特征(年龄、性别、组织学亚型、肿瘤大小、肿瘤包膜的存在、双侧性、多灶性、甲状腺外侵犯(ETE)、甲状腺包膜侵犯、桥本甲状腺炎的存在、淋巴结转移(LNM)和远处转移)。
72例患者中有30例(41.6%)检测到BRAF突变。该突变的存在与经典变异(p = 0.046)、甲状腺包膜侵犯(p = 0.002)和无肿瘤包膜(p = 0.003)在统计学上显著相关。
尽管BRAF突变阳性的偶然PTMC具有更强的侵袭性,但该突变的存在与随访三年内的复发无关。