在甲状腺良性和恶性瘤细胞 (赫尔特尔细胞) 瘤中观察到各种遗传变异
Chiara Jean Cocelli1, Lisa Reid2, Shuyue Ren3
1Cooper Medical School of Rowan University, Camden, United States.
CytoJournal
|February 10, 2026
概括
瘤细胞性甲状腺新生体 (ONs) 由于重叠的特征,存在诊断挑战. 分子检测至关重要,因为瘤细胞瘤瘤的负面结果表明良性诊断,有助于区分恶性瘤.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 瘤性甲状腺瘤 (ONs),包括腺瘤 (OA) 和癌瘤 (OC),是具有独特分子形状的独特瘤.
- 在乳头甲状腺癌 (PTC) 和甲状腺炎中,也可能存在细胞变化.
- 在手术前区分良性和恶性ONs是具有挑战性的,因为细胞学特征重叠.
研究的目的:
- 检查ONs中的细胞学模式和遗传变化.
- 为了提高瘤细胞性甲状腺瘤的诊断准确度.
主要方法:
- 从2018年1月到2025年3月,对119次ON和细胞PTC (OPTC) 手术切除进行了回顾性分析.
- 使用贝塞斯达系统报告甲状腺细胞病理学的65个细针吸收活检结果的分类.
- 使用Afirma,ThyroSeq或ThyGeNEXT/ThyraMIR进行分子检查,并进行统计分析,包括Wilcoxon排列和试验,逻辑回归和费舍尔的精确试验.
主要成果:
- 较年轻的患者年龄与恶性瘤有关 (P = 0.0300).
- 分子分析显示3.6%的恶性病例和33.3%的良性病例对测试的变化是负的 (P = 0.0035).
- 常见的突变包括OC中的EIF1AX和OPTC中的HRAS Q61R;OA显示了更多的染色体复制数变化.
结论:
- 由于细胞学和分子重叠,ONs存在诊断挑战.
- 目前的分子测试显示了广泛的遗传改变,但缺乏特异性来区分良性和恶性ON.
- 在ONs中,负分子测试结果更可能表明良性疾病.
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