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Loss of heterozygosity (LOH) in tumour suppressor genes in benign and malignant mixed odontogenic tumours
Authors:Clarice F Galvão  Carolina C Gomes  Marina G Diniz  Pablo A Vargas  Alfredo M B de Paula  Adalberto Mosqueda‐Taylor  Adriano M Loyola  Ricardo S Gomez
Institution:Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Brazil.
Abstract:Although molecular alterations are reported in different types of odontogenic tumours, their pathogenesis remains to be established. Loss of heterozygosity (LOH) studies allow the identification of minimal regions of deletions of known or putative tumour suppressor genes, the losses of which may promote neoplastic growth. The purpose of this study was to investigate LOH in a set of odontogenic mixed tumours. Tumour suppressor gene loci on 3p, 9p, 11p, 11q and 17p chromosomes were analysed in five samples of ameloblastic fibroma (AF), three samples of ameloblastic fibro-odontoma (AFO) and three samples of ameloblastic fibrosarcoma (AFS). The most frequently lost genetic loci were p53 (17p13, 62%) and CHRNB1 (17p13, 55%). LOH at the chromosome regions 3p24.3, 9p22 and 9p22-p21 was identified only in AFS. No sample showed LOH at the chromosomal loci 3p21.2 and 11q13.4. For the region 9p22-p13, LOH occurred in one sample of AFO. The fractional allelic loss (FAL) was calculated for each sample. The mean FAL of the benign lesions (i.e. AF and AFO) was 22%, whereas the mean FAL of the malignant lesions (i.e. AFS) was 74.6%. In conclusion, our results show a higher FAL in AFS compared to its benign counterparts and reveal a different pattern of LOH of tumour suppressor genes in AFS, which may regulate changes in tumour behaviour.
Keywords:ameloblastic fibroma  ameloblastic fibro‐odontoma  ameloblastic fibrosarcoma  loss of heterozygosity  mixed odontogenic tumours  tumour suppressor genes
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