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 mult...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.展开更多
基金supported by the National Natural Science Foundation of China(Nos.81671006 and 81300894)the CAMS Innovation Fund for Medical Sciences(No.2019-I2M-5-038)the Program for New Clinical Techniques and Therapies of Peking University Hospital of Stomatology(No.PKUSSNCT 22A14),China。
文摘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.
