口腔癌的分子和遗传病变:定制诊断和治疗的基础
Leonor Barroso1, Pedro Veiga2, Joana Barbosa Melo2,3,4
1Maxillofacial Surgery Department, Unidade Local de Saúde de Coimbra, 3000-075 Coimbra, Portugal.
Biology
|July 29, 2025
概括
由于遗传异质性和预后不佳,口腔癌存在重大挑战. 液体活检为改善诊断和监测这种复杂疾病提供了一个有希望的方法.
科学领域:
- 在瘤学瘤学.
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
背景情况:
- 口腔癌是全球主要的健康问题,通常在晚期被诊断出来,患者的治疗结果不佳.
- 患有口腔癌的患者面临着在上空消化道内发展二次原发性瘤的高风险.
- 由于口腔瘤的复杂分子格局,目前的治疗方法往往不足.
研究的目的:
- 审查目前对口腔癌分子,遗传和表观遗传变化的理解.
- 探索液体活检在治疗口腔癌中的潜在应用和挑战.
- 突出需要先进的诊断工具来解决瘤异质性的需要.
主要方法:
- 关于口腔癌分子病原学的现有文献的全面审查.
- 对基因组,细胞遗传和表观遗传变化的分析.
- 对信号通路失调的评估,包括PI3K/AKT/mTOR,TP53,RB和WNT/β-catenin.
- 评估微RNA表达特征.
- 审查液体活检技术 (循环瘤细胞,细胞外囊泡,无细胞核酸).
主要成果:
- 确定了频繁的基因组变异 (3p,8p,9p,18q的损失;3q,7p,8q,11q的增长) 和受影响的基因 (例如TP53,EGFR,PI3K).
- 记录了各种表观遗传变化,包括全球低甲基化和特定基因高甲基化 (例如CDKN2A,APC,MGMT).
- 观察到许多microRNAs的改变表达,特定的miRNAs被上调 (例如miR-21,miR-222) 或下调 (例如miR-203,miR-375).
- 突出了口腔瘤的遗传异质性,使单次活检分子剖析复杂化.
- 承认液体活检的潜力,以克服诊断,随访和预后分层的传统活检的局限性.
结论:
- 显著的分子和遗传改变是口腔癌的发展和进展的基础.
- 液体活检是克服口腔瘤异质性和演变所带来的挑战的有希望的工具.
- 进一步的研究和液体活检的临床整合对于改善口腔癌患者管理至关重要.
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