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• W2952330843 abstract "Background and Objectives Ameloblastoma is a benign odontogenic neoplasm, characterized by local invasiveness, facial deformity, tooth displacement, a high rate of recurrence, and malignant transformation. It accounts for 63% of odontogenic tumour in Nigeria. Recently, studies in the genomic landscape of ameloblastoma have identified a number of consistent alterations that may be useful for therapeutic intervention. To date, no whole genome survey of ameloblastoma and ameloblastic carcinoma has been published. Methods DNA was extracted from RNALater stored tissue using the DNeasy Tissue Kit (QIAGEN), from a cohort of ten ameloblastoma and three ameloblastic carcinoma from UCH, Ibadan, Nigeria. Whole genome analysis was performed using the Oncoscan FFPE Assay Kit (Affymetrix). Data was analysed using Nexus Express for Oncoscan 17.0 and Somatic Mutation Viewer 1.0.1. Findings Ameloblastoma (n=10) showed a mean genome change of 9.7%, with a mean of 88.7 copy number (CN) aberrations and 7.5% of loss of heterozygosity (LOH), whereas the ameloblastic carcinomas (n=3) had a mean genome change of 6.8% with a mean of 87.3 copy number (CN) aberrations and 3.6% of loss of heterozygosity (LOH). All tumours (benign and malignant) showed CN gain at 8q23.3, affecting the CSMD3 gene. Other commonly affected regions included LOH at 1p34.2-p34.1 and 2q11.2, among others. Ameloblastoma and ameloblastic carcinomas shared somatic mutations in BRAFV600E, EGFR, KRAS and PTEN genes. One ameloblastoma showed a mutation in TP53 and two (66.7%) ameloblastic carcinomas showed a mutation in the PIK3CA gene, which was not observed in the ameloblastoma cohort. Conclusions Ameloblastoma and ameloblastic carcinoma do not show extensive genome changes indicative of genomic instability. We have identified novel areas of CN gain and LOH that require further investigation. The mutational profile of these lesions is similar to that reported in the literature. Funding: Pathological Society of Great Britain." @default.
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• W2952330843 date "2019-07-01" @default.
• W2952330843 modified "2023-10-05" @default.
• W2952330843 title "IDENTIfiCATION OF novel copy number ALTERATIONS IN AMELOBLASTOMA AND AMELOBLASTIC CARCINOMA FROM NIGERIA" @default.
• W2952330843 doi "https://doi.org/10.1016/j.oooo.2019.02.091" @default.
• W2952330843 hasPublicationYear "2019" @default.
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