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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
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骨髓母细胞瘤的基因组和转录组分析揭示了明显的分子侵略性表型
Constanza Marín-Márquez1, Akinyele O Adisa2, Sven E Niklander3
1Unit of Oral and Maxillofacial Medicine, Pathology and Surgery, University of Sheffield, Sheffield, UK; Facultad de Odontología y Ciencias de la Rehabilitación, Universidad San Sebastián, Puerto Montt, Chile.
概括
这项研究整合了全外体和RNA测序,揭示了对乳腺母细胞瘤 (AM) 病变的新见解. 鉴定出了与上皮细胞-介质细胞过渡相关的CDH11和TGM2等新型基因,提供了潜在的治疗点.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 口腔病理学 口腔病理学
背景情况:
- 骨髓母细胞瘤 (AM) 是一种局部侵袭性牙新生瘤,复发率高.
- BRAFV600E突变是已知的驱动因素,但AM的完整病因发生仍不清楚.
- 了解AM的分子基础对于改善管理至关重要.
研究的目的:
- 在AM样本中整合整个外因子测序 (WES) 和RNA测序数据.
- 为了确定参与AM病变发生的新型候选基因.
- 探索与侵略性表型相关的分子子组.
主要方法:
- 在13个匹配的AM瘤上进行全外体测序 (WES) 和RNA测序.
- 通过桑格测序和通过qPCR转录组数据验证突变.
- 免疫组织化学用于候选基因的生物验证.
主要成果:
- 在62%的病例中发现了BRAFV600E突变;每个AM都有2-3个癌症驱动基因突变.
- 通过RNA-seq识别了与表皮细胞-介质细胞过渡和KRAS相关的分子子组.
- 验证了与表皮-介质细胞过渡相关的新型基因CDH11和TGM2.
- 没有检测到任何基因融合.
结论:
- 由于致癌突变和激活的信号通路,AM表现出癌症的特征.
- 在AM中,在增殖,分化和新陈代谢中的基因变化很普遍.
- CDH11和TGM2代表了AM研究的新潜在目标.
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