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数字乳头腺癌的基因组和转录组分析揭示了矩阵重塑和代谢基因的变化

Erol Can Bayraktar¹, Phyu P Aung², Pavandeep Gill²

¹Department of Pathology and Dermatology, NYU Langone Medical Center, New York, New York, USA.

Journal of cutaneous pathology

|January 6, 2025

概括

数字乳头腺癌 (DPAC) 是一种罕见的皮肤癌. 这项研究发现了新的基因融合,并证实了与DPAC中人类乳头瘤病毒-42 (HPV42) 相关的改变的DNA复制途径.

科学领域:

皮肤病理学皮肤病理学
在瘤学瘤学.
基因组学就是基因组学.

背景情况:

数字乳头腺癌 (Digital papillary adenocarcinoma,简称DPAC) 是一种罕见的,激进的皮肤癌,起源于状部位的汗腺.
DPAC的细胞和遗传基础在很大程度上仍然没有特征,这阻碍了有效的治疗策略.

研究的目的:

综合分析DPAC的基因组和转录基因组景观.
为了确定关键的分子变化和涉及DPAC病变的途径.
将DPAC的基因表达特征与良性水瘤的基因表达特征进行比较.

主要方法:

针对14个DPAC样本进行了下一代DNA和RNA测序.
基因表达概况利用了纳米链技术 nCounter IO 360 面板.
免疫组织化学被用来验证基因表达的结果.

主要成果:

在两个DPAC案例中发现了融合基因重组 (CRTC3::MAML2,TRPS1::PLAG1).
DPAC表现出参与矩阵重塑,新陈代谢和DNA损伤修复的基因的丰富.
人类乳头瘤病毒-42 (HPV42) 在所有测试的DPAC病例中都被检测到,E2F目标基因的显著上调.

结论:

在DPAC中发现了新的基因融合.
与HPV42感染相关的改变的复制途径在DPAC病变发生过程中得到了验证.
在DPAC瘤中观察到CD56,CDC20,SOX10和B细胞透的表达增加.

关键词:

附带性瘤是指附带性瘤分子病理学分子病理学皮肤瘤皮肤瘤转录组 (transcriptome) 是一个转录组.

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