在结膜黑色素瘤的发展和预后ATRX损失
Jolique A van Ipenburg1, Quincy C C van den Bosch2, Dion Paridaens2,3
1Department of Pathology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
International journal of molecular sciences
|August 26, 2023
概括
丢失ATRX和TERT促进子突变是结膜黑色素瘤不良行为的指标. 这些遗传变化在癌前和癌性病变中发现,有助于预后.
科学领域:
- 眼科医生 眼科 眼科
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 转移性结膜黑色素瘤 (CM) 与TERT促进子突变有关.
- TERT促进器和ATRX突变与受损的端粒维护有关.
研究的目的:
- 为了研究ATRX损失在结膜黑色细胞病变的预后意义.
- 评估ATRX损失作为攻击性结膜色素细胞病变的潜在诊断标志物.
主要方法:
- 免疫组织化学染色用于ATRX状态.
- 对于TERT促进子突变的分子诊断.
- 来自鹿特丹眼膜黑色素瘤研究的86个结膜黑色素细胞病变的分析.
主要成果:
- 在没有异型症的 nevi 和初级获得性黑色素瘤 (PAM) 中没有ATRX损失.
- 在2/5的PAM和8/59CM中发生了ATRX损失.
- 没有观察到与ATRX损失的TERT促进子突变;然而,8/11的转移性CM有TERT促进子突变,2/11显示ATRX损失.
结论:
- 在 (前) 恶性结膜色素细胞病变中存在ATRX损失和TERT促进子突变.
- 这些变化与CM的不良行为和转移潜力有关.
- 类似于TERT促进子突变的ATRX损失,可以作为预测结膜黑色细胞病变的诊断工具.
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