骨髓质纤维瘤相关的病变是真正的瘤吗? :通过CNA和BRAF突变分析的证据
Xiaowen Guo1,2,3, Jiang Xue1,2,3, Lisha Sun2,3,4
1Department of Oral Pathology, Peking University School and Hospital of Stomatology.
The American journal of surgical pathology
|October 25, 2024
概括
骨髓质纤维瘤和相关病变显示出不同的分子配置,包括BRAF突变和副本数量的改变,使它们与牙瘤区别开来. 这些发现有助于诊断和预测疾病的进展.
科学领域:
- 口腔和面病理学 口腔和面病理学
- 分子瘤学分子瘤学
- 牙科研究 牙科研究
背景情况:
- 骨髓质纤维瘤 (AF) 和相关病变 (AFD,AFO) 代表了一系列不确定的下病变的分类.
- 2017年世卫组织的分类表明,AFD和AFO是牙瘤的前体,但它们的瘤或牙瘤性质需要进一步调查.
研究的目的:
- 调查AF,AFD,AFO和口腔瘤的临床特征,复发模式和分子概况.
- 用分子标记物,如BRAF突变和拷贝数变化 (CNAs) 来区分AF和相关病变与牙瘤.
主要方法:
- 对临床数据的分析,包括19 AF,4 AFD,15 AFO,19 odontomas 和2 ameloblastic 纤维瘤的年龄,部位,大小和复发情况.
- 对于BRAF突变和CNAs,介质细胞和上皮细胞组件的分子概况.
主要成果:
- AF主要影响20岁以下的人,复发率为21.1%. AFD和AFO发生在年轻的患者身上,没有观察到复发.
- BRAF p.V600E突变和CNA在AF,AFD,AFO和骨髓质纤维沙尔科马的介质组分中普遍存在,但在牙瘤中不存在.
- 在所有病变类型的上皮成分中没有检测到任何突变.
结论:
- AF及其相关的病变表现出一系列的生物行为,潜在的范围从真正的瘤到瘤.
- 在AF和相关病变中介质组分中存在BRAF突变和CNA,这表明它们具有瘤特征,与牙瘤有区别.
- 副本数量改变分析是差异诊断和预测这些病变疾病进展的宝贵工具.
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