在接受全甲状腺切除术的患者下一代测序上,乳头甲状腺癌的基因组景观
Karunakaran Poongkodi1,2,3, Sumathi Periyasamy4, Raj Ashok Gurunathan4
1Chief Civil Surgeon and Assistant Professor of Endocrine Surgery, Government Mohan Kumaramangalam Medical College, Salem, Tamil Nadu, India.
World journal of surgery
|November 5, 2024
概括
这项研究使用下一代测序 (NGS) 识别了乳头甲状腺癌 (PTC) 的遗传标记和新突变. 这些发现为PTC患者的精确诊断和个性化治疗提供了洞察力.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 甲状腺切除术经常用于怀疑甲状腺恶性瘤.
- 了解甲状腺癌的遗传基础对于改善患者的治疗结果至关重要.
研究的目的:
- 为了识别与甲状腺恶性瘤相关的遗传标记.
- 使用下一代测序 (NGS) 确定乳头甲状腺癌 (PTC) 的分子格局.
主要方法:
- 分析了103名接受全甲状腺切除术的患者队列.
- 在手术期间,活体甲状腺组织样本通过NGS进行了基因组和转录组分析.
- 分析包括在Illumina NovaSeq 6000平台上进行DNA和RNA测序.
主要成果:
- 在NTRK1和ALK中的单核酸多态性 (SNPs) 在恶性病变中很常见.
- 在PTC中,在BRAF,ALK,RET,PIK3CA,NTRK1,NTRK2,NTRK3,NRAS和PTCH1基因中发现了反复发生的体内突变.
- 新的融合基因被发现,ALK突变显示出预测复发和转移的潜力 (AUC 0.818和0.783).
结论:
- 该研究在PTC中发现了新的体质突变和融合基因,揭示了独特的基因组景观.
- 这些发现对PTC的精确诊断和个性化治疗有影响.
- 术内NGS采样显示出在高级/转移性PTC中预后和治疗优化的前景.
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