DICER1突变并不总是表明儿童差差分化甲状腺癌的预后不佳
Gülçin Yegen1, Ali Yılmaz Altay2,3, İsmail Yılmaz4
1Department of Pathology, Istanbul Faculty of Medicine, İstanbul University, Capa, Istanbul, Türkiye. gulcinyegen@gmail.com.
Endocrine pathology
|August 13, 2023
概括
在小儿差分甲状腺癌 (PDTCs) 中的DICER1突变可能并不总是预测一个糟糕的结果. 需要进一步的基因组分析,以便在这些罕见的儿科甲状腺癌中准确地分层风险.
科学领域:
- 儿科病理学 儿科病理学
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
背景情况:
- DICER1突变与各种小儿甲状腺瘤有关,包括一些差异化甲状腺癌和差异化甲状腺癌 (PDTCs) 具有攻击性行为.
- 儿科PDTC很罕见,由于患者数据有限,DICER1突变患者的预后通常被认为是可悲的.
研究的目的:
- 在一系列儿科PDTC中评估临床病理变量.
- 调查这些瘤中DICER1和TERT促进子突变的状态.
- 在儿科PDTC中将遗传发现与临床结果相关联.
主要方法:
- 使用图林标准 (世卫组织2022年) 对5个儿科PDTC (年龄≤18岁) 的分析.
- 检查DICER1和TERT促进体突变状态.
- 对临床病理特征的审查,包括线粒活性,亡,血管侵袭和p53表达.
- 随访数据收集以评估患者的治疗结果.
主要成果:
- 五分之一的PDTC (20%) 含有DICER1热点突变;没有一个具有TERT促进器突变.
- DICER1突变瘤显示出侵入性生长,但缺乏血管入侵,并且具有惰的临床过程.
- DICER1野生型瘤表现出相关的发现,如淋巴细胞性甲状腺炎或分化甲状腺癌组件.
- 随访数据显示,DICER1突变病例中没有远程转移,而一个DICER1野生型病例患有复发性结节疾病.
结论:
- 单独的DICER1突变可能无法预测所有儿科PDTC的悲惨结果.
- 额外的基因组变化和已确定的病理变量对于风险分层至关重要.
- 在研究的DICER1突变PDTC中没有血管入侵,这可能解释了它的惰行为.
- 需要进一步的研究来证实这些发现,并提高对儿科甲状腺瘤的理解.
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