儿童及青少年甲状腺癌的临床病理特点及BRAF^V600E突变

Clinicopathological features,BRAF^V600E mutation rate and its clinical correlation for thyroid carcinoma in children and adolescent

目的:探讨儿童及青少年甲状腺癌的临床病理特点、BRAFV600E突变情况及其临床相关性。方法:回顾性分析空军军医大学西京医院2007年06月至2019年03月期间收治的77例儿童及青少年(≤20岁)甲状腺癌患者的临床特征。随机抽取86例成人甲状腺癌患者作为对照组,比较两组甲状腺癌人群发病特征、治疗策略及预后的异同。采用ADx■-BRAF基因突变检测试剂盒检测BRAFV600E基因突变情况,分析BRAFV600E基因突变的突变率及临床相关性。结果:儿童及青少年甲状腺癌的性别分布与成人基本一致,病理诊断均以甲状腺乳头状癌居多(92.2%vs 100%)。然而,儿童及青少年甲状腺微小乳头状癌的比例明显低于成人甲状腺癌患者(11.7%vs 60.5%)。两组患者在血型、病灶位置及淋巴结转移方面存在显著差异,P<0.05。儿童及青少年甲状腺癌较成人易复发,儿童及青少年组甲状腺癌患者治疗后复发转移率13%,显著高于对照组。儿童及青少年甲状腺癌患者BRAFV600E突变率为83.1%,与成人组患者基本类似。BRAFV600E基因突变组与野生组在性别、年龄、肿瘤发生灶、病理诊断、以及是否复发转移方面差异无统计学意义,P>0.05。而在血型和淋巴结转移方面存在显著差异,野生组AB型患者则显著多于突变组,突变组患者淋巴结转移比例显著高于野生型组患者(73.4%vs 38.5%,P=0.014)。结论:儿童及青少年甲状腺乳头状癌比例更高,多表现为多灶及双侧分布,更常见区域性淋巴结转移,复发转移率高,但是其长期预后情况需进一步证实。BRAFV600E突变在儿童及青少年甲状腺癌中的突变比例及临床相关性仍存在争议。

Objective:To investigate the clinicopathological features,BRAFV600 E mutation rate and its clinical correlation in children and adolescent thyroid carcinoma.Methods:A retrospective study was conducted to explore the clinical characteristics of 77 children and adolescent thyroid cancer patients treated in Xijing Hospital from June 2007 to March 2019.Eighty-six adult patients with thyroid cancer were randomly selected as the control.The characteristics,treatment strategies and prognosis between two groups were compared.BRAFV600 E gene mutation was detected by ADx■-BRAF gene mutation detection kit.The mutation rate and clinical association of BRAFV600 E gene were explored.Results:The gender distribution of thyroid carcinoma in children and adolescents was basically the same as that in adults.Most of the pathological diagnoses were papillary thyroid carcinoma(92.2% vs 100%).However,the proportion of thyroid micropapillary carcinoma in children and adolescents was significantly lower than that in adult thyroid cancer patients(11.7% vs 60.5%).Significant differences in blood type,focus location and lymph node metastasis were found between the two groups(P<0.05).Thyroid cancer in children and adolescents was more likely to recur than adults.The recurrence and metastasis rate of thyroid cancer in children and adolescents after treatment was 13%,higher than that in the control group.The mutation rate of BRAFV600 E in children and adolescents with thyroid cancer was 83.1%,similar to that in adult patients.There was no significant difference in gender,age,tumor focus,pathological diagnosis,recurrence and metastasis between BRAFV600 E gene mutation group and wild group.However,significant differences in blood type and lymph node metastasis were found.The patients with type AB in the wild group were significantly more than those in the mutation group.The proportion of lymph node metastasis in the mutation group was significantly higher than that in the wild group(73.4% vs 38.5%,P=0.014).Conclusion:Thyroid cancer in children and adolescents was commonly diagnosed with papillary carcinoma,representing to be multifocal,bilateral,and more aggressive.The long-term prognosis needs further verification.The proportion of BRAFV600 E mutation and its clinical correlation in children and adolescents with thyroid carcinoma are still controversial.