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On-line Access: 2024-08-27

Received: 2023-10-17

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Journal of Zhejiang University SCIENCE B

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


Author(s):  Aobo ZHANG, Jianyun ZHANG, Xuefen LI, Xia ZHOU, Yanrui FENG, Lijing ZHU, Heyu ZHANG, Lisha SUN, Tiejun LI

Affiliation(s):  Department of Oral Pathology, Peking University School and Hospital of Stomatology & more

Corresponding email(s):  litiejun22@vip.sina.com, lisa_sun@bjmu.edu.cn, zhangheyu1983@sina.cn

Key Words:  Odontogenic myxoma; Copy number variation; Odontogenic fibroma; Odontogenic fibromyxoma; Diagnostic marker.


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Aobo ZHANG, Jianyun ZHANG, Xuefen LI, Xia ZHOU, Yanrui FENG, Lijing ZHU, Heyu ZHANG, Lisha SUN, Tiejun LI. Deciphering odontogenic myxoma: The role of copy number variations as diagnostic signatures[J]. Journal of Zhejiang University Science B,in press.Frontiers of Information Technology & Electronic Engineering,in press.https://doi.org/10.1631/jzus.B2400081

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year="in press",
publisher="Zhejiang University Press & Springer",
doi="https://doi.org/10.1631/jzus.B2400081"
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A1 - Lisha SUN
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Abstract: 
In light of the lack of reliable molecular markers for odontogenic myxoma (OM), the detection of copy number variations (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. KEGG analysis indicated potential links between this CNV patterns and the calcium signaling pathway and salivary secretion, while 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.

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