Deciphering odontogenic myxoma: the role of copy number variations as diagnostic signatures.

Aobo ZHANG; Jianyun ZHANG; Xuefen LI; Xia ZHOU; Yanrui FENG; Lijing ZHU; Heyu ZHANG; Lisha SUN; Tiejun LI

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Deciphering odontogenic myxoma: the role of copy number variations as diagnostic signatures.

Author: Aobo ZHANG ¹ ; Jianyun ZHANG ¹ ; Xuefen LI ² ; Xia ZHOU ³ ; Yanrui FENG ² ; Lijing ZHU ¹ ; Heyu ZHANG ⁴ ; Lisha SUN ⁵ ; Tiejun LI ⁶
Author Information

1. 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.
2. Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034), Beijing 100081, China.
3. Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing 100081, China.
4. Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034), Beijing 100081, China. litiejun22@vip.sina.com, zhangheyu1983@sina.cn.
5. Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034), Beijing 100081, China. litiejun22@vip.sina.com, lisa_sun@bjmu.edu.cn.
6. 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. litiejun22@vip.sina.com.
Publication Type:Journal Article
Keywords: Copy number variation; Diagnostic marker; Odontogenic fibroma; Odontogenic fibromyxoma; Odontogenic myxoma
MeSH: 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
From: Journal of Zhejiang University. Science. B 2024;25(12):1071-1082
CountryChina
Language:English
Abstract: 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.