Zhang Aobo, Zhang Jianyun, Li Xuefen, Zhou Xia, Feng Yanrui, Zhu Lijing, Zhang Heyu, Sun Lisha, Li Tiejun
Department of Oral Pathology, Peking University School and Hospital of Stomatology / National Center of Stomatology / National Clinical Research Center for Oral Diseases / National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing 100081, China.
Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034), Beijing 100081, China.
J Zhejiang Univ Sci B. 2024 Dec 15;25(12):1071-1082. doi: 10.1631/jzus.B2400081.
In light of the lack of reliable molecular markers for odontogenic myxoma (OM), the detection of copy number variation (CNV) may present a more objective method for assessing ambiguous cases. In this study, we employed multiregional microdissection sequencing to integrate morphological features with genomic profiling. This allowed us to reveal the CNV profiles of OM and compare them with dental papilla (DP), dental follicle (DF), and odontogenic fibroma (OF) tissues. We identified a distinct and robustly consistent CNV pattern in 93.75% (30/32) of OM cases, characterized by CNV gain events in chromosomes 4, 5, 8, 10, 12, 16, 17, 20, and 21. This pattern significantly differed from the CNV patterns observed in DP, DF, and OF. The Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis indicated potential links between this CNV patterns and the calcium signaling pathway and salivary secretion, while Gene Ontology (GO) term analysis implicated CNV patterns in tumor adhesion, tooth development, and cell proliferation. Comprehensive CNV analysis accurately identified a case that was initially disputable between OF and OM as OM. Our findings provide a reliable diagnostic clue and fresh insights into the molecular biological mechanism underlying OM.
鉴于牙源性黏液瘤（OM）缺乏可靠的分子标志物，拷贝数变异（CNV）检测可能为评估疑难病例提供一种更客观的方法。在本研究中，我们采用多区域显微切割测序技术，将形态学特征与基因组分析相结合。这使我们能够揭示OM的CNV图谱，并将其与牙乳头（DP）、牙囊（DF）和牙源性纤维瘤（OF）组织进行比较。我们在93.75%（32/30）的OM病例中发现了一种独特且高度一致的CNV模式，其特征为4号、5号、8号、10号、12号、16号、17号、20号和21号染色体上的CNV增益事件。这种模式与在DP、DF和OF中观察到的CNV模式有显著差异。京都基因与基因组百科全书（KEGG）分析表明，这种CNV模式与钙信号通路和唾液分泌之间存在潜在联系，而基因本体论（GO）术语分析表明CNV模式与肿瘤黏附、牙齿发育和细胞增殖有关。全面的CNV分析准确地将一例最初在OF和OM之间存在争议的病例鉴定为OM。我们的研究结果为OM提供了可靠的诊断线索，并对其潜在的分子生物学机制有了新的认识。
