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一个患有DICER1相关瘤倾向的儿童的Desmoid纤维化

Paul Scott Thorner¹, Anne-Laure Chong^2,3, Sung Mi Jung⁴

¹Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

Virchows Archiv : an international journal of pathology

|July 12, 2025

概括

DICER1瘤倾向是一种罕见的遗传性疾病,可以在儿童中表现为desmoid纤维化. 这一案例突出了DICER1变异和CTNNB1突变,表明瘤发育中的协同途径.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
分子生物学分子生物学

背景情况:

与DICER1相关的瘤倾向是一种遗传性疾病,通常与儿童中介质瘤有关.
德斯莫伊德纤维化涉及β-catenin失调,通常是由于APC或CTNNB1突变,激活WNT通路.

研究的目的:

在一个患有生殖系DICER1热点变异的儿童中报告一个独特的胸壁desmoid纤维化病例.
研究DICER1变体和CTNNB1突变在desmoid纤维素瘤发育中的潜在协同机制.

主要方法:

一个儿科患者患有desmoid纤维素瘤的病例报告.
基因分析包括生殖系DICER1变异和体质CTNNB1突变检测.
对于β-catenin核积累的免疫组织化学.

主要成果:

该患者患有生殖系DICER1热点变体和体质CTNNB1热点突变 (c.134C>T,p.S45F) 在脱纤维化症中.
免疫组织化学揭示了瘤中的β-catenin核积累.
这表明与DICER1相关的胎儿肺瘤类似的机制涉及WNT通路激活.

结论:

德斯莫伊德纤维化可能是DICER1相关瘤倾向的罕见表现.
生殖系DICER1变种和体质CTNNB1突变之间的协同效应可能驱动desmoid纤维化中WNT通路的激活.
这一发现扩大了与DICER1相关疾病相关的瘤的范围.

关键词:

在 CTNNB1 找贝塔-catenin 的使用情况.DICER1 的意思是说.德斯莫伊德纤维肌瘤症 (德斯莫伊德纤维肌瘤症)

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