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.
Humans ; DNA Copy Number Variations ; Odontogenic Tumors/diagnosis* ; Myxoma/genetics* ; Female ; Male ; Adult ; Adolescent ; Middle Aged ; Dental Papilla ; Young Adult ; Fibroma/genetics* ; Dental Sac ; Child

Carney complex is a multiple neoplasia syndrome, inherited in an autosomal dominant manner, that is characterized by lentigines, cardiac myxoma, and numerous endocrine and other tumors, including primary pigmented nodular adrenocortical disease. Here, we describe a typical case of Carney complex in a 27- year-old female who exhibited spotty skin pigmentation on the lips, oral mucosa, fingers, and toes and several manifestations of Cushing's syndrome due to primary pigmented nodular adrenocortical disease. She also had pituitary adenoma, breast tumor and thyroid nodule. Only a few cases of this disorder have been reported in the Korean literature. All of them, however, had only two components of Carney complex: composed of skin pigmentation and primary pigmented nodular adrenocortical disease. Therefore, the present case seems to be the first true case of Carney complex reported in Korea.
Adult ; Cushing Syndrome/*diagnosis ; Female ; Human ; Hyperpigmentation/diagnosis ; Magnetic Resonance Imaging ; Multiple Endocrine Neoplasia/diagnosis ; Myxoma/*diagnosis/genetics ; Neoplasms, Multiple Primary/*diagnosis ; Pituitary Neoplasms/*diagnosis ; Skin Neoplasms/*diagnosis/genetics ; Syndrome