New genetic findings in parotid gland pleomorphic adenomas

Wemmert, Silke; Willnecker, Vivienne; Brunner, Christian; Wenzel, Gentiana I.; Sauter, Birgit; Meinelt, Heike; Bartholmé, Nadia; Saada, Carolin; Bohle, Rainer M.; Urbschat, Steffi; Schick, Bernhard

doi:10.1002/hed.23147

Cited by 6 publications

(3 citation statements)

References 26 publications

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“…Recent reports indicated new locations of chromosomal aberrations, which characterise PA within the following regions: 8p23, 10q25, 9p, and 11q24. However, their importance concerning particular gene expression profiles requires further research [ 35 ].…”

Section: Benign Tumoursmentioning

confidence: 99%

Particular aspects in the cytogenetics and molecular biology of salivary gland tumours – current review of reports

Ochal-Choińska

Osuch‐Wójcikiewicz

2016

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Salivary gland tumours are a group of lesions whose heterogeneity of biological and pathological features is widely reflected in the molecular aspect. This is demonstrated by an increasing number of studies in the field of genetics of these tumours.The aim of this study was to collect the most significant scientific reports on the cytogenetic and molecular data concerning these tumours, which might facilitate the identification of potential biomarkers and therapeutic targets. The analysis covered 71 papers included in the PubMed database. We focused on the most common tumours, such as pleomorphic adenoma, Warthin tumour, mucoepidermoid carcinoma, and others. The aim of this study is to present current knowledge about widely explored genotypic alterations (such as PLAG1 gene in pleomorphic adenoma or MECT1 gene in mucoepidermoid carcinoma), and also about rare markers, like Mena or SOX10 protein, which might also be associated with tumourigenesis and carcinogenesis of these tumours.

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Section: Benign Tumoursmentioning

confidence: 99%

Particular aspects in the cytogenetics and molecular biology of salivary gland tumours – current review of reports

Ochal-Choińska

Osuch‐Wójcikiewicz

2016

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“…C-myc was amplified in 9% of PAs and also in 33% of CXPA cases. The gain of genes or chromosome regions commonly occurs in tumour cells, but a recent study using FISH did not show evidence of HER-2 gene amplification in benign pleomorphic adenomas (30). Nonetheless, HER-2 amplification has been previously indicated as a common event in the process of PA transformation into carcinoma ex pleomorphic adenoma (10).…”

Section: Discussionmentioning

confidence: 96%

Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands / SOMATSKE MUTACIJE I ANALIZA POLIMORFIZAMA U PLEOMORFNIM ADENOMIMA PLJUVAČNIH ŽLEZDA

Nikolic¹,

Aničić²,

Tepavčević³

et al. 2013

Journal of Medical Biochemistry

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Summary 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 pleomor- phic 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 detec- tion). 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<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 poly- morphisms represent susceptibility factors for the develop- ment of PAs in the Serbian population.

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“…Cytogenetic analysis of salivary gland tumors has revealed chromosomal translocations at the breakpoints 8q12, 3p21, and 12q13–155, corresponding to the PLAG1,6 β-catenin7, and HMGIC8 genes, respectively [ 2 – 5 ]. Novel candidate regions on 8p23.1pter, 9p, 10q25.1q25.3, and 11q24qter, with respective candidate genes of MCPH1, ANGPT2, TNKS, PINXI; p15, p16; MXI1, CASP7 and TBRG1, CHEK1, were proposed by Wemmert et al [ 6 ]. Recently, evidence has emerged suggesting that miRNAs may play a profound role in pleomorphic adenoma tumorigenesis, with most elevated levels of hsa-miR-140-5p, hsa-miR-99b, and hsa-miR-140, and the most decreased of hsa-miR-20b, mmu-miR-291-3p, and hsa-miR-144 [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

The Role of Nrf2 in Pathology of Pleomorphic Adenoma in Parotid Gland

et al. 2015

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BackgroundPleomorphic adenoma (benign mixed tumor) is one of the most common salivary gland tumors. However, the processes involved in its carcinogenesis are not well defined. This study aimed to define the contribution of Nfr2 (nuclear factor (erythroid-derived 2)-like 2) to pleomorphic adenoma pathology. The Nrf2-controlled gene system is one of the most critical cytoprotective mechanisms, providing antioxidant responses.Material/MethodsThe study was carried out in pleomorphic adenoma and control parotid gland tissues, investigating gene expression of NFE2L2, as well as KEAP1 (Kelch-like ECH-associated protein 1) and NQO1 (quinone oxidoreductase), at mRNA and protein (immunohistochemistry) levels. Functional evaluation of Nrf2 system in the parotid gland was evaluated in HSY cells (human parotid gland adenocarcinoma cells).ResultsPleomorphic adenoma specimens showed cytoplasmic and nuclear Nfr2 expression in epithelial cells, as well as more variable lower Nrf2 level in mesenchymal cells. In the parotid gland, Nrf2 was expressed in cytoplasm of serous, mucous, and duct cells. Nuclear Nrf2 expression was predominantly seen in serous cells, whereas mucous and duct cells were mostly negative. Comparable mRNA levels of NFE2L2 and NQO1 genes and significantly higher expression of KEAP1 in pleomorphic adenoma were seen. HSY cell incubation with oltipraz demonstrated significant elevation of NFE2L2 after 24 and 48 hours of stimulation, whereas NQO1 was elevated, but significantly only after 24 hours, and KEAP1 expression remained unchanged.ConclusionsSummarizing both in vitro and in vivo observations, it can be stated that Nrf2 may play a role in the pathology of pleomorphic adenoma.

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New genetic findings in parotid gland pleomorphic adenomas

Abstract: Our present study reveals new insights in novel candidate regions implicated in pleomorphic adenoma tumorigenesis which should be considered in further molecular studies.

Cited by 6 publications

References 26 publications

Particular aspects in the cytogenetics and molecular biology of salivary gland tumours – current review of reports

Particular aspects in the cytogenetics and molecular biology of salivary gland tumours – current review of reports

Somatic Mutation and Polymorphism Analysis in Pleomorphic Adenomas of the Salivary Glands / SOMATSKE MUTACIJE I ANALIZA POLIMORFIZAMA U PLEOMORFNIM ADENOMIMA PLJUVAČNIH ŽLEZDA

The Role of Nrf2 in Pathology of Pleomorphic Adenoma in Parotid Gland

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