分子洞察多发性白血病的分子洞察:TERT促进子突变是否是一种预测标记?
Nikita Garg1, Priya Kumar2, Aadithya B Urs1
1Maulana Azad Institute of Dental Sciences, New Delhi, India.
Virchows Archiv : an international journal of pathology
|February 3, 2026
概括
端粒酶逆转录酶 (TERT) 促进子突变在增殖性白血病 (PVL) 中很罕见,与口腔状细胞癌不同. 这表明独特的遗传因素驱动PVL的发展,使其与其他潜在的恶性口腔疾病区别开来.
科学领域:
- 口腔病理学 口腔病理学
- 分子瘤学分子瘤学
- 癌症遗传学 癌症遗传学
背景情况:
- 增殖性白血病 (PVL) 是一种具有高恶性转变率的侵袭性口腔潜在恶性疾病 (OPMD).
- 尽管进行了广泛的研究,但PVL的病理生理学仍然不太清楚.
- 端粒酶逆转录酶 (TERT) 促进子突变 (C228T,C250T) 与各种上皮癌有关,但它们在PVL中的作用尚不清楚,特别是在印度人口中.
研究的目的:
- 在PVL中研究TERT促进子突变 (C228T,C250T) 和rs2853669单核酸多态 (SNP) 的频率.
- 为了比较PVL,口腔白血病 (OL),口腔状细胞癌 (OSCC) 和健康对照中的突变和SNP频率.
- 阐明PVL的分子特征及其与其他口腔病变的潜在区别.
主要方法:
- 基因组DNA从120个新鲜冷组织样本中提取 (30个OL,PVL,OSCC和对照).
- 桑格测序被用来检测TERT促进体C228T和C250T突变以及rs2853669 SNP.
- 进行了统计分析,以评估观察到的频率和关联的重要性.
主要成果:
- 在6.7%的PVL病例,0%的OL病例和20%的OSCC病例中检测到TERT C228T突变 (p=0.03).
- TERT C250T突变仅在6.7%的OSCC病例中发现;对照组中没有任何突变.
- 观察到rs2853669SNP (CC基因型) 与OL中的上皮质发育不良之间存在显著的关联 (p=0.04).
结论:
- PVL的分子概况显示,TERT促进体突变的参与有限.
- PVL的遗传基础似乎与其他口腔癌性病变中常见的基因不同.
- 在研究的印度人群中,TERT促进子突变不是PVL的显著分子特征.
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