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.
由于牙源性黏液瘤（OM）缺乏可靠的分子标志物，拷贝数变异（CNV）检测有望为诊断复杂病例提供更为客观的手段。本研究通过多区域显微切割技术，结合形态学特征和基因组分析，绘制了OM的CNV图谱，并将其与牙乳头（DP）、牙囊（DF）及牙源性纤维瘤（OF）进行对比分析。在93.75%（30/32）的OM病例中，我们发现了一种独特且高度一致的CNV特征，表现为染色体4、5、8、10、12、16、17、20和21的拷贝数增加。该CNV特征与DP、DF和OF中观察到的CNV存在显著性差异。KEGG分析显示，OM中的CNV与钙信号通路和唾液分泌通路之间存在显著关联，而GO富集分析则揭示其与肿瘤黏附、牙发育及细胞增殖等通路相关。最后，通过CNV分析，我们成功鉴别出一例在OM与OF之间存在争议的病例，并最终确认为OM。本研究为OM的诊断提供了新的分子标志，并为其分子机制的研究开辟了新的方向。.
由于牙源性黏液瘤（OM）缺乏可靠的分子标志物，拷贝数变异（CNV）检测有望为诊断复杂病例提供更为客观的手段。本研究通过多区域显微切割技术，结合形态学特征和基因组分析，绘制了OM的CNV图谱，并将其与牙乳头（DP）、牙囊（DF）及牙源性纤维瘤（OF）进行对比分析。在93.75%（30/32）的OM病例中，我们发现了一种独特且高度一致的CNV特征，表现为染色体4、5、8、10、12、16、17、20和21的拷贝数增加。该CNV特征与DP、DF和OF中观察到的CNV存在显著性差异。KEGG分析显示，OM中的CNV与钙信号通路和唾液分泌通路之间存在显著关联，而GO富集分析则揭示其与肿瘤黏附、牙发育及细胞增殖等通路相关。最后，通过CNV分析，我们成功鉴别出一例在OM与OF之间存在争议的病例，并最终确认为OM。本研究为OM的诊断提供了新的分子标志，并为其分子机制的研究开辟了新的方向。
Keywords: Copy number variation; Diagnostic marker; Odontogenic fibroma; Odontogenic fibromyxoma; Odontogenic myxoma.