NTRK的表达在桑托格兰瘤中很常见,与单一变异相关
B Umphress1, M Kuhar1,2, R Kowal1,2
1Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Journal of cutaneous pathology
|August 15, 2023
概括
NTRK的表达在青少年桑托格兰瘤 (JXG) 和成人桑托格兰瘤 (AXG) 中很常见,特别是在局部情况下. 这一发现可能被忽视了,因为在遗传研究中专注于传播疾病.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
背景情况:
- 青少年桑托格兰瘤 (JXG) 和成人桑托格兰瘤 (AXG) 是一种囊细胞性疾病,在MAP激酶通路和罕见的NTRK融合中具有已知的驱动基因.
- 一个JXG和AXG病例的子集缺乏已识别的遗传驱动因素,这表明可能涉及其他途径.
研究的目的:
- 调查JXG和AXG中NTRK表达的流行率和临床意义.
- 为了确定NTRK表达是否与特定的疾病表现有关,例如局部化与传播形式.
主要方法:
- 下一代测序 (NGS) 和泛NTRK免疫染被用于在两个初始情况下识别NTRK1融合.
- 一组50例JXG和AXG病例使用泛NTRK免疫染进行了查.
- 通过测试已知NTRK状态和非新生体质细胞状况的病例来确认特异性.
主要成果:
- 在局部JXG/AXG病例中,NTRK过度表达在53.5% (23分之 43) 检测到.
- 在分散的JXG/AXG病例中没有观察到NTRK过度表达 (七个中的零个).
- 在两个积极的情况下,NGS证实了NTRK1的合并.
结论:
- 在JXG和AXG中,NTRK表达是常见的发现,主要是在局部疾病中.
- NTRK表达与局部疾病的关联可能解释了为什么它以前被低估了.
- 需要进行进一步的遗传研究,以充分阐明NTRK在JXG和AXG病变发生中的作用.
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