先天性围支骨肌纤维细胞瘤携带一个复发的EGFR激酶域重复
Sheren Younes1, Carlos J Suarez1, Jennifer Pogoriler2
1Department of Pathology, Stanford University School of Medicine, Stanford, California.
概括
婴儿的先天性外支气管肌纤维细胞瘤 (CPMTs) 是由EGFR激酶域重复 (KDD) 驱动的. 这一发现表明,CPMT和先天性骨质神经瘤有共同的瘤发生,并且可能是相同的瘤类型.
科学领域:
- 儿科瘤学 儿科瘤学
- 分子病理学分子病理学
- 发展生物学 发展生物学
背景情况:
- 先天性周支骨髓纤维细胞瘤 (CPMT) 是一种罕见的,良性婴儿肺部瘤,具有显著的发病率.
- 尽管已知临床和组织学特征,但CPMT的分子基础和瘤发生在很大程度上仍然未知.
研究的目的:
- 调查先天性围支骨髓纤维细胞瘤 (CPMTs) 的分子特征和瘤发生.
- 确定CPMT中经常发生的基因变异,并探索它们与其他婴儿间瘤的关系.
主要方法:
- 针对性的基于RNA和DNA的下一代测序 (NGS) 在四个CPMT病例中进行.
- NGS包括对重新排列,序列变异和副本数量变异的分析.
- 对所有病例的临床数据和随访信息都进行了审查.
主要成果:
- 皮肤上生长因子受体 (EGFR) 激酶域重复 (KDD) 在所有四个CPMT病例中都被确定.
- EGFR KDD被证实是CPMT中经常出现的瘤原因驱动因素.
- 形态和临床相似性表明CPMT和先天性骨髓质神经瘤具有共同的瘤发生.
结论:
- EGFR KDD是先天性周围支气管肌纤维细胞瘤中经常出现的瘤原因驱动因素.
- CPMT和先天性骨质神经瘤可能代表不同位置的相同瘤实体,共享共同的瘤发生.
- EGFR KDD 作为婴儿间瘤子集的诊断标记物和潜在的治疗标.
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