The relationship between genetic characteristics and clinical characteristics and the efficacy of <sup>131</sup>I therapy in children and adolescents with locally advanced or metastatic differentiated thyroid cancer

Di SUN; Yuqing SUN; Xin ZHANG; Lisha HUANG; Yansong LIN

doi:10.19401/j.cnki.1007-3639.2022.05.002

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The relationship between genetic characteristics and clinical characteristics and the efficacy of ¹³¹I therapy in children and adolescents with locally advanced or metastatic differentiated thyroid cancer

Specialists' Article | 更新时间：2025-12-31

- The relationship between genetic characteristics and clinical characteristics and the efficacy of ¹³¹I therapy in children and adolescents with locally advanced or metastatic differentiated thyroid cancer
- China Oncology Vol. 32, Issue 5, Pages: 380-387(2022)
- 作者机构：
  
  1. 中国医学科学院北京协和医学院北京协和医院核医学科,疑难重症及罕见病国家重点实验室,北京 100730
  2. 核医学分子靶向诊疗北京市重点实验室,北京 100730
  3. 浙江绍兴鼎晶生物医药科技股份有限公司,上海 201318
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2022.05.002
  CLC： R736.1
- Received：15 April 2022，
  
  Revised：2022-05-04，
  
  Published：30 May 2022
- 稿件说明：
移动端阅览
Di SUN, Yuqing SUN, Xin ZHANG, et al. The relationship between genetic characteristics and clinical characteristics and the efficacy of ¹³¹I therapy in children and adolescents with locally advanced or metastatic differentiated thyroid cancer[J]. China Oncology, 2022, 32(5): 380-387.
DOI：

Di SUN, Yuqing SUN, Xin ZHANG, et al. The relationship between genetic characteristics and clinical characteristics and the efficacy of ¹³¹I therapy in children and adolescents with locally advanced or metastatic differentiated thyroid cancer[J]. China Oncology, 2022, 32(5): 380-387. DOI： 10.19401/j.cnki.1007-3639.2022.05.002.

摘要

背景与目的：

儿童及青少年分化型甲状腺癌（differentiated thyroid cancer

DTC）的分子生物学特征及其临床指导意义尚不明确。本研究拟初步探讨局部晚期或转移性DTC患儿的基因特征分布及其与临床特征及

131

I疗效的关系。

方法：

采用甲状腺癌相关基因panel（ThyroLead

）对2020年12月

#x02014;2021年7月就诊于中国医学科学院北京协和医学院北京协和医院的儿童及青少年侵袭性DTC的原发灶进行测序

并回顾性收集患儿的临床病理学特征及

131

I治疗相关资料

分析其基因特征与其临床病理学特征及

131

I疗效的关系。

结果：

本队列纳入39例局部晚期或转移性患儿

可及数据中所有患儿均存在淋巴结转移

侧方区受累率达91.4%（32/35）

远处转移率达61.5%（24/39）。61.5%（24/39）的患儿检出甲状腺癌相关基因变异

其中以

RET

融合（38.5%

15/39）和

BRAF

V600E点突变（12.8%

5/39）最为常见。突变组与非突变组的临床特征差异无统计学意义（

0.05）。远处转移中

91.7%（22/24）的患儿在

131

I治疗后仍呈结构性疗效不佳（structural incomplete response

SIR）状态

其中9例患儿呈放射性碘难治（radioactive iodine-refractory

RAIR）状态。RAIR状态患儿中88.9%（8/9）检出相关基因变异

其中

NCOA

RET

融合占62.5%（5/8）。进一步将

RET

变异组患儿细化分组显示

与其他形式的

RET

融合相比

NCOA

RET

融合阳性者远处转移率更高（33.3%

88.9%

=0.089）

提示其具有更高的远处侵犯倾向。

结论：

局部晚期或转移性DTC患儿的基因突变以融合突变尤其是

RET

融合为主

其中

NCOA

RET

融合阳性者似乎显示出更强的侵袭性

更易呈RAIR状态。

Abstract

Background and purpose:

The molecular characteristics of differentiated thyroid cancer (DTC) in children and adolescents and its role in clinical practice remain unclear. This study intended to explore the genetic characteristics and its relationship with clinical characteristics and efficacy of

131

I therapy in locally advanced or metastatic pediatric and adolescent DTC patients.

Methods:

A thyroid cancer-related gene panel (ThyroLead

#x000ae;) was used to test the primary tumors from children and adolescents with DTC treated in Peking Union Medical College Hospital

Chinese Academy of Medical Sciences and Peking Union Medical College from December 2020 to July 2021. The samples were sequenced

the clinicopathologic

al characteristics and

131

I treatment history were retrospectively collected

and the relationship between their genetic characteristics and clinicopathological characteristics and the efficacy of

131

I therapy was analyzed.

Results:

All the 39 children present locally advanced or metastatic disease. All the children with accessible data had lymph node metastasis

91.4% (32/35) of whom had lateral lymph node metastasis

and 61.5% (24/39) patients had distant metastasis. Thyroid cancer-related gene variants were detected in 61.5% (24/39) of the patients

among which RET fusion (38.5%

15/39) and

BRAF

V600E point mutation (12.8%

5/39) were the most common. No statistically significant differences were found in clinical characteristics between the mutation group and the non-mutation group (

0.05). Most of the children (91.7%

22/24) with distant metastases remained structural incomplete response (SIR) status after

131

I treatment. Nine patients were considered radioactive iodine-refractory (RAIR) status

and 8 of them had thyroid cancer driver mutations

among which

NCOA

RET

accounted for 62.5% (5/8). Among cases with RET genetic variations

NCOA

RET

fusion-positive patients tended to present more distant metastasis than those with other forms of

RET

fusion (33.3%

88.9%

=0.089).

Conclusion:

Compared with point mutations

fusion gene mutations

especially

RET

fusions

are more common in locally advanced or metastatic pediatric and adolescent DTC patients.

NCOA

RET

fusion-positive tumor has more aggressive behaviors and are more likely to become RAIR.

关键词

Keywords

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The relationship between genetic characteristics and clinical characteristics and the efficacy of 131I therapy in children and adolescents with locally advanced or metastatic differentiated thyroid cancer

DOI：10.19401/j.cnki.1007-3639.2022.05.002

摘要

Abstract

关键词

Keywords

references

The relationship between genetic characteristics and clinical characteristics and the efficacy of ¹³¹I therapy in children and adolescents with locally advanced or metastatic differentiated thyroid cancer