Jezdic, Zoran

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Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands

Nikolic, Nada; Aničić, Boban; Tepavcevic, Zvezdana; Jezdic, Zoran; Čarkić, Jelena; Toljic, Bosko; Dedović-Tanić, Nasta; Konstantinovic, Vitomir; Vukadinovic, Miroslav; Milašin, Jelena

(2013)

TY  - JOUR
AU  - Nikolic, Nada
AU  - Aničić, Boban
AU  - Tepavcevic, Zvezdana
AU  - Jezdic, Zoran
AU  - Čarkić, Jelena
AU  - Toljic, Bosko
AU  - Dedović-Tanić, Nasta
AU  - Konstantinovic, Vitomir
AU  - Vukadinovic, Miroslav
AU  - Milašin, Jelena
PY  - 2013
UR  - https://vinar.vin.bg.ac.rs/handle/123456789/5746
AB  - Background: Genetic studies of salivary gland neoplasms were mainly focused on chromosomal changes, and some specific patterns of chromosome translocations have been described. However, molecular alterations, in particular the role of HER-2/H-ras/c-myc signalling cascade in pleomorphic adenoma pathogenesis (PA), are less well characterized. In addition, data on single nucleotide polymorphisms (SNPs) as potential susceptibility factors for PA development are also quite scarce. Methods: Mutational analyses were performed by means of real-time PCR (HER-2 and c-myc amplification analysis), PCR-SSCP and sequencing (H-ras point mutation detection). Polymorphisms analysis was performed by PCR-RFLP (survivin and MMP-9 genes). Results: Amplification of HER-2 and c-myc has been found in 13% and 9% of PA cases respectively. Point mutations in H-ras codons 12/13 have been detected in 17% of PAs. No correlation could be established between these alterations and clinical characteristics of PAs, whereas they might play a role in a subset of malignant salivary gland tumours. As for survivin -31 G/C polymorphism, C allele carriers had a 4-fold decrease of the risk of developing PA (p=0.05). Carriers of the variant allele T of the -1562C/T SNP in MMP-9 gene had a 4-fold increase of the risk of developing PA (p LT 0.001). Conclusions: A longer follow-up of PA patients harbouring mutations could uncover a prognostic role of HER-2 and c-myc amplification as predictors of adenoma transformation into carcinoma. Both survivin and MMP-9 promoter polymorphisms represent susceptibility factors for the development of PAs in the Serbian population.
T2  - Journal of Medical Biochemistry
T1  - Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands
VL  - 32
IS  - 4
SP  - 354
EP  - 360
DO  - 10.2478/jomb-2013-0048
ER  - 
@article{
author = "Nikolic, Nada and Aničić, Boban and Tepavcevic, Zvezdana and Jezdic, Zoran and Čarkić, Jelena and Toljic, Bosko and Dedović-Tanić, Nasta and Konstantinovic, Vitomir and Vukadinovic, Miroslav and Milašin, Jelena",
year = "2013",
abstract = "Background: Genetic studies of salivary gland neoplasms were mainly focused on chromosomal changes, and some specific patterns of chromosome translocations have been described. However, molecular alterations, in particular the role of HER-2/H-ras/c-myc signalling cascade in pleomorphic adenoma pathogenesis (PA), are less well characterized. In addition, data on single nucleotide polymorphisms (SNPs) as potential susceptibility factors for PA development are also quite scarce. Methods: Mutational analyses were performed by means of real-time PCR (HER-2 and c-myc amplification analysis), PCR-SSCP and sequencing (H-ras point mutation detection). Polymorphisms analysis was performed by PCR-RFLP (survivin and MMP-9 genes). Results: Amplification of HER-2 and c-myc has been found in 13% and 9% of PA cases respectively. Point mutations in H-ras codons 12/13 have been detected in 17% of PAs. No correlation could be established between these alterations and clinical characteristics of PAs, whereas they might play a role in a subset of malignant salivary gland tumours. As for survivin -31 G/C polymorphism, C allele carriers had a 4-fold decrease of the risk of developing PA (p=0.05). Carriers of the variant allele T of the -1562C/T SNP in MMP-9 gene had a 4-fold increase of the risk of developing PA (p LT 0.001). Conclusions: A longer follow-up of PA patients harbouring mutations could uncover a prognostic role of HER-2 and c-myc amplification as predictors of adenoma transformation into carcinoma. Both survivin and MMP-9 promoter polymorphisms represent susceptibility factors for the development of PAs in the Serbian population.",
journal = "Journal of Medical Biochemistry",
title = "Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands",
volume = "32",
number = "4",
pages = "354-360",
doi = "10.2478/jomb-2013-0048"
}
Nikolic, N., Aničić, B., Tepavcevic, Z., Jezdic, Z., Čarkić, J., Toljic, B., Dedović-Tanić, N., Konstantinovic, V., Vukadinovic, M.,& Milašin, J.. (2013). Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands. in Journal of Medical Biochemistry, 32(4), 354-360.
https://doi.org/10.2478/jomb-2013-0048
Nikolic N, Aničić B, Tepavcevic Z, Jezdic Z, Čarkić J, Toljic B, Dedović-Tanić N, Konstantinovic V, Vukadinovic M, Milašin J. Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands. in Journal of Medical Biochemistry. 2013;32(4):354-360.
doi:10.2478/jomb-2013-0048 .
Nikolic, Nada, Aničić, Boban, Tepavcevic, Zvezdana, Jezdic, Zoran, Čarkić, Jelena, Toljic, Bosko, Dedović-Tanić, Nasta, Konstantinovic, Vitomir, Vukadinovic, Miroslav, Milašin, Jelena, "Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands" in Journal of Medical Biochemistry, 32, no. 4 (2013):354-360,
https://doi.org/10.2478/jomb-2013-0048 . .
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