Dataset Information

Assessment of TP53 mutations in benign and malignant salivary gland neoplasms.

ABSTRACT: Despite advances in the understanding of the pathogenesis of salivary gland neoplasms (SGN), the molecular pathways associated with enhanced tumor growth and cell survival remain to be established. The aim of the present study was to investigate whether TP53 mutations are relevant to SGN pathogenesis and if they impact on p53 protein expression. The study included 18 benign and 18 malignant SGN samples. Two polymorphic microsatellite markers at the TP53 genetic locus were chosen to assess loss of heterozygosity (LOH) in the samples that had matched normal DNA. The TP53 exons 2-11 were amplified by PCR, and all of the products were sequenced. Reverse transcription-PCR of the TP53 open reading frame (ORF) was carried out in the samples that had fresh tissue available, and immunohistochemistry for the p53 protein was performed in all samples. TP53 LOH was only found in two pleomorphic adenomas. We found two missense mutations in exon 7 (one in a pleomorphic adenoma and the other in a polymorphous low grade adenocarcinoma), another in exon 8 (in a carcinoma ex pleomorphic adenoma) and a fourth missense mutation in exon 10 (in a mucoepidermoid carcinoma). In addition, a nonsense mutation was found in exon 8 of an adenoid cystic carcinoma. Several intronic and exonic SNPs were detected. Although almost all of the malignant samples were immunopositive for p53, approximately 37% of the benign samples were positive, including the sample harboring the missense mutation and one of the samples that showed LOH. The complete TP53 ORF could be amplified in all samples analyzed, including the IHC negative samples, the samples showing LOH and one sample displaying a missense mutation. In summary, our results show that TP53 mutations are not a frequent event in SGN and that p53 immunopositivity might not be associated with sequence mutations in SGN.

SUBMITTER: Gomes CC

PROVIDER: S-EPMC3400573 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Assessment of TP53 mutations in benign and malignant salivary gland neoplasms.

Gomes Carolina Cavaliéri CC Diniz Marina Gonçalves MG Orsine Lissur Azevedo LA Duarte Alessandra Pires AP Fonseca-Silva Thiago T Conn Brendan I BI De Marco Luiz L Pereira Cláudia Maria CM Gomez Ricardo Santiago RS

PloS one 20120719 7

Despite advances in the understanding of the pathogenesis of salivary gland neoplasms (SGN), the molecular pathways associated with enhanced tumor growth and cell survival remain to be established. The aim of the present study was to investigate whether TP53 mutations are relevant to SGN pathogenesis and if they impact on p53 protein expression. The study included 18 benign and 18 malignant SGN samples. Two polymorphic microsatellite markers at the TP53 genetic locus were chosen to assess loss o ...[more]

PMID: 22829934

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Project description:PurposeThe clinical practice of elastosonography for the detection of salivary gland tumors is still a controversial issue. The objective of this meta-analysis was to evaluate the effect of elastosonography for the diagnosis of salivary gland tumors and to compare the diagnostic value of elastosonography and conventional ultrasound in the diagnosis of salivary gland tumors.MethodsA comprehensive literature search through PubMed, EMBASE, and Cochrane Library was carried out from inception to November 2021. Two researchers independently extracted the data from the enrolled papers using a standard data extraction form. The pooled sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), and area under the curve (AUC) were calculated to evaluate the diagnostic performance of elastosonography. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) tool was utilized to evaluate the quality of each included study. Meta-DiSc version 1.4, Review Manager 5.3, and StataSE 15 were used.ResultsSixteen studies with a total of 1105 patients with 1146 lesions were included in this meta-analysis. The pooled sensitivity, specificity, PLR, NLR, and DOR of elastosonography for the differentiation between benign and malignant salivary gland tumors were 0.73 (95%CI, 0.66-0.78), 0.64 (95%CI, 0.61-0.67), 2.83 (95%CI, 1.97-4.07), 0.45 (95%CI, 0.32-0.62), and 9.86 (95%CI, 4.49-21.62), respectively, with an AUC of 0.82. Four studies provided data regarding the conventional ultrasound for the differentiation between benign and malignant salivary gland tumors. The pooled sensitivity, specificity, and DOR were 0.62 (95%CI, 0.50-0.73), 0.93 (95%CI, 0.90-0.96), and 25.07 (95%CI, 4.28-146.65), respectively. The meta-regression and subgroup analyses found that assessment methods were associated with significant heterogeneity, and quantitative or semiquantitative elastosonography performed better than the qualitative one.ConclusionsElastosonography showed a limited value for diagnosing malignant salivary gland tumors; it could be considered as a supplementary diagnostic technology to conventional ultrasound, and quantitative or semiquantitative elastosonography was superior to the qualitative one.

Project description:IntroductionMinor salivary gland neoplasms of epithelial origin are rare in children and adolescents and most are not well documented, except for a few small series and case reports. This study represents a retrospective clinical analysis of nine cases of benign epithelial salivary gland neoplasms accessioned over a 35-year period at the Louisiana State University School of Dentistry and combines the data with well-documented cases from the English-language literature.MethodsA retrospective clinical analysis of nine cases of benign epithelial salivary gland neoplasms was performed over a 35-year period at the Louisiana State University School of Dentistry and combined with data of well-documented cases from the English-language literature.ResultsThe nine benign salivary gland neoplasms in patients aged 19 months to 18 years accounted for 2.3% of the Louisiana State University School of Dentistry accessioned salivary gland tumors. These nine cases comprised eight pleomorphic adenomas and one cystadenoma. There were 40 cases in the literature, of which 34 were pleomorphic adenomas. Combining the data for the 42 pleomorphic adenomas resulted in a mean age of 12 years with a 2.8:1 female predilection. The hard palate and/or soft palate were the most common site (69.1%). The average duration and size was 2.1 years and 2.4cm, respectively. Bone involvement occurred in seven cases. Wide local excision was the treatment most often employed. Cases followed for two years or more had a recurrence rate of 13.0%. The remaining seven neoplasms in the combined data comprised myoepithelioma, cystadenoma and sialadenoma papilliferum.ConclusionsA relatively long duration (2 years) of a submucosal mass in a minor salivary gland-bearing area with or without bone involvement occurring in a child or adolescent should raise the question of a possible salivary gland neoplasm. A pleomorphic adenoma is the most common benign salivary gland neoplasm in the first and second decade of life. Complete surgical excision affords the best chance of preventing recurrence for pleomorphic adenomas. The recurrence rate of pleomorphic adenomas with two or more years follow-up is 13.0%. Other types of minor salivary gland neoplasms are exceedingly rare and therefore data is sparse, precluding any valid conclusions.

Dataset Information

Assessment of TP53 mutations in benign and malignant salivary gland neoplasms.

Publications

Assessment of TP53 mutations in benign and malignant salivary gland neoplasms.

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