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在平面泌尿管病变中对非编码和编码DNA突变的比较分析:生物学含义和见解

Fidele Y Musangile¹, Ibu Matsuzaki¹, Ryuta Iwamoto¹

¹Department of Human Pathology, Wakayama Medical University, 811-1 Kimiidera, Wakayama, 641-8509, Japan.

Virchows Archiv : an international journal of pathology

|August 21, 2024

概括

非编码突变,特别是内基突变,在泌尿道病变中很常见,并有助于瘤异质性. 这些内基突变可能与尿癌的基因组不稳定性有关.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
尿癌研究尿癌研究

背景情况:

尿癌 (UC) 研究主要集中在编码突变上.
非编码突变在UC发育和进展中的作用仍然在很大程度上未被探索.
了解非编码突变对于全面了解瘤生物学至关重要.

研究的目的:

为了评估非编码DNA突变的频率与正常尿膜和平面病变中的编码区域相比.
探索非编码突变对尿路细胞癌瘤生物学的影响.
为了研究与病变类型和相关瘤有关的突变模式.

主要方法:

针对性下一代测序使用与UC相关的基因组.
分析了119个带有各种损伤类型的平面泌尿样本.
基于相关瘤存在和与基因组区域相关的突变模式的检查.

主要成果:

内部突变 (IMs) 在病变中显示出不同的频率,在正常泌尿体 (43%) 中最高,在 in situ (CIS) 癌症中最低 (9%).
类似的经常发生突变的基因在内基和外基区域中被发现,与促进子突变不同.
在FGFR3和ERCC2的内部突变在与乳头瘤相关的病变中是复发性的,与外来突变模式相关.

结论:

内部突变显著导致尿病变中的瘤异质性.
非编码突变可能在尿癌的基因组不稳定性中发挥作用.
对内基突变进行进一步的研究是有必要的,以便完全了解UC.

关键词:

平面泌尿器损伤的病变内部突变是一种内在突变.这是下一代测序.没有编码的突变.尿路细胞癌是什么意思

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