Evaluation of a subset of tumor suppressor gene for copy number and epigenitic changes in pleomorphic adenoma and carcinoma ex-pleomorphic adenoma carcinogenesis

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• 作者：Fernanda Viviane Mariano ; DDS ; PhD^a ; ^{fevimariano@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Erika Said Egal ; DVM ; PhD student^a ; Dimitrius Pramio ; PhD^b ; Felipe Fidalgo ; PhD^b ; É ; rica Sara ; PhD^b ; Ana Flá ; via Costa ; DDS ; PhD^b ; Rogé ; rio de Oliveira Gondak ; PhD^c ; Ricardo Della Coletta ; DDS ; PhD^d ; Oslei Paes de Almeida ; DDS ; PhD^d ; Luiz Paulo Kowalski ; MD ; PhD^e ; Ana Cristina Victorino Krepischi ; PhD^f ; Albina Altemani ; MD ; PhD^a
• 刊名：Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：122
• 期：3
• 页码：322-331
• 全文大小：2593 K

文摘

The progression of pleomorphic adenoma (PA) to carcinoma ex-pleomorphic adenoma (CXPA) encompasses several genomic alterations involving complex pathways. Tumor suppressor genes seem to play important roles in the tumorigenesis of both tumors. The aim of this study was to evaluate copy number and methylation of tumor suppressor genes' status in PA and CXPA samples.

Study Design

Eight cases of PA, 2 cases of residual PA in CXPA, and 5 cases of CXPA were studied; the latter were classified according to invasiveness and histopathological subtype. Changes in 41 tumor suppressor genes were evaluated by multiplex ligation-probe dependent amplification analysis.

Results

Copy number losses of CASP8, MLH1, and RARB genes were associated with PA and CXPA, while KLK3 and AI69125 copy number losses were exclusive to CXPA. The sarcomatoid carcinoma showed more copy number alterations compared with other subtypes. Hypermethylation of RASSF1 was found mainly in PA and less frequently in malignant tumors.

Conclusions

CASP8, MLH1, and RARB tumor suppressor genes were altered by copy number losses during PA progression to CXPA. Lastly, RASSF1 inactivation by methylation was also detected in both tumors.