1.Copy number alteration profiling facilitates differential diagnosis between ossifying fibroma and fibrous dysplasia of the jaws.
Ming MA ; Lu LIU ; Ruirui SHI ; Jianyun ZHANG ; Xiaotian LI ; Xuefen LI ; Jiaying BAI ; Jianbin WANG ; Yanyi HUANG ; Tiejun LI
International Journal of Oral Science 2021;13(1):21-21
Ossifying fibroma (OF) and fibrous dysplasia (FD) are two fibro-osseous lesions with overlapping clinicopathological features, making diagnosis challenging. In this study, we applied a whole-genome shallow sequencing approach to facilitate differential diagnosis via precise profiling of copy number alterations (CNAs) using minute amounts of DNA extracted from morphologically correlated microdissected tissue samples. Freshly frozen tissue specimens from OF (n = 29) and FD (n = 28) patients were obtained for analysis. Lesion fibrous tissues and surrounding normal tissues were obtained by laser capture microdissection (LCM), with ~30-50 cells (5 000-10 000 µm
DNA Copy Number Variations
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Diagnosis, Differential
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Fibroma, Ossifying/genetics*
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Fibrous Dysplasia of Bone/genetics*
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Galactosyltransferases
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Humans
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Jaw
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Neoplasm Recurrence, Local
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Nuclear Proteins