儿童甲状腺乳头状癌BRAF基因突变及临床意义

Correlation between BRAF mutation and clinicopathological characteristics in pediatric papillary thyroid carcinoma

目的研究儿童甲状腺乳头状癌BRAF(V600E)基因突变情况及其临床意义。方法选取2012年1月至2016年12月天津医科大学肿瘤医院肿瘤组织库收集的儿童(≤18岁)甲状腺乳头状癌肿瘤组织标本,进行BRAF(V600E)基因检测,分析BRAF(V600E)突变与患儿临床特征及复发的相关性。结果共收集患儿22例,其中发生BRAF(V600E)突变10例,突变率为45.5%。儿童甲状腺乳头状癌患者BRAF(V600E)突变率低于成人甲状腺乳头状癌患者(77.7%)(χ^(2)=11.250,P=0.001)。>12岁患儿BRAF(V600E)突变率(66.7%)高于≤12岁患儿(20.0%)(P<0.05)。女性患儿BRAF(V600E)突变率(69.2%)高于男性患儿(11.1%)(P<0.05)。BRAF(V600E)突变与肿瘤多发病灶、肿瘤直径、高侵袭亚型、腺外侵犯、淋巴结转移及婴幼儿放射史均无明显相关性(均P>0.05)。中位随访时间为45个月。随访期间无死亡病例。复发病例3例,均为颈部淋巴结复发。BRAF(V600E)突变与肿瘤复发无明显相关性(P>0.05)。结论儿童甲状腺乳头状癌BRAF(V600E)基因突变率低于成人,BRAF(V600E)突变不预示儿童甲状腺乳头状癌具有更高侵袭性的临床生物学行为。

Objective To investigate the BRAF(V600E)gene mutation of pediatric papillary thyroid carcinoma(PTC)and refine their clinicopathological correlates.Methods Tumor tissue samples of pediatric PTCs(≤18 years old)were collected from tumor tissue bank of Tianjin Medical University Cancer Institute and Hospital from January 2012 to December 2016.The medical records of 22 patients with pediatric PTC were reviewed retrospectively.The frequencies of BRAF(V600E)mutation were evaluated and the correlation between BRAF(V600E)mutation and clinical characteristics were analyzed.Results BRAF(V600E)mutations were present in 45.5%of cases(10 cases).BRAF(V600E)mutation in pediatric PTC was obviously lower than that in adults PTC(77.7%)(χ^(2)=11.250,P=0.001).BRAF(V600E)mutation in>12-year-old group(66.7%)was remarkably higher than that in≤12-year-old group(20.0%)(P<0.05).BRAF(V600E)mutation in female(69.2%)was greatly higher than that in male(11.1%)(P<0.05).There was no significant correlation with BRAF(V600E)mutation and multiple tumor,tumor size,highly invasive subtype,extrathyroidal extension,lymph node metastasis and radiological history of infants(all P>0.05).The median follow-up time was 45 months.No patients died and BRAF(V600E)mutation was not associated with the increase of recurrence rate(P>0.05).Conclusions BRAF(V600E)gene mutation in pediatric PTC is lower than that in adults.BRAF(V600E)mutation does not portend a more aggressive clinical biological behavior in pediatric PTC.