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与DICER1相关的小儿甲状腺新生体与毛囊和毛囊生长:没有阅读教科书的瘤
José Manuel Cameselle-Teijeiro1, Sangeeta Verma2, Anthony Penn3
1Department of Pathology, Clinical University Hospital of Santiago de Compostela, Galician Healthcare Service (SERGAS), Health Research Institute of Santiago de Compostela (IDIS), Medical Faculty, University of Santiago de Compostela, Travesía Choupana s/n, Santiago de Compostela, 15706, Spain. josemanuel.cameselle@usc.es.
Endocrine pathology
|September 2, 2025
概括
这项研究详细介绍了一名患有DICER1综合征的11岁女孩的小儿甲状腺瘤, 这些发现扩大了对DICER1相关甲状腺瘤的理解.
科学领域:
- 内分泌学
- 癌症学
- 遗传学
背景情况:
- DICER1综合征与各种甲状腺病变有关,包括多发性和瘤扩散.
- 在DICER1综合征中也观察到差异化和差异化甲状腺癌.
研究的目的:
- 在患有DICER1综合征的儿科患者中描述一种独特的囊括性卵泡细胞甲状腺瘤,具有混合的卵泡和卵泡生长.
- 描述这种新型瘤的组织病理和分子特征.
主要方法:
- 甲状腺瘤和伴随的卵泡结节性疾病的组织病理检查.
- 针对各种甲状腺和瘤标志物的免疫组织化学分析 (TTF1/NKX2,PAX8,甲状腺蛋白,甲状腺氧化酶,角质蛋白,CK19,维门丁,CD10,CDX2,β-catenin).
- 基因分析以确定DICER1和CTNNB1基因中的生殖系和体型变异.
主要成果:
- 在一个11岁的女孩身上发现了一种新型的囊细胞甲状腺瘤,该瘤具有混合的毛囊和毛囊生长.
- 瘤表现出明显的组织特征和毛囊和毛囊组件的免疫特征.
- 在瘤中发现了体性DICER1和CTNNB1变异,以及生殖系DICER1变异.
结论:
- 这种病例代表了一个新的实体:"与DICER1相关的小儿甲状腺新生体与卵泡和骨髓生长",扩大了与DICER1相关的甲状腺病变的范围.
- 这些发现表明WNT/β-catenin通路激活与毛囊分化的缺失之间存在潜在的联系.
- 这项研究强调了与DICER1综合征相关的儿童甲状腺瘤的综合遗传和组织病理评估的重要性.
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