MST1R methylation as a diagnostic biomarker in renal cell tumors

Acta Urológica Portuguesa Pub Date : 2015-05-01 DOI:10.1016/j.acup.2015.01.004

Ana Sílvia Pires-Luís , Francisco Lobo , Márcia Vieira-Coimbra , Pedro Costa-Pinheiro , Luís Antunes , Jorge Oliveira , Rui Henrique , Carmen Jerónimo

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引用次数: 3

Abstract

Introduction

Renal cell tumors comprise both benign – oncocytoma – and malignant – clear cell renal cell carcinoma, papillary renal cell carcinoma, and chromophobe renal cell carcinoma – entities. Since the differential diagnosis among renal cell tumors is sometimes difficult on clinical, imaging and pathological grounds, and prognosis is quite dissimilar, epigenetic-based diagnostic biomarkers, specially promoter methylation, might be useful for accurate diagnosis and therapeutic planning.

Materials and methods

EpiTect Methyl II PCR Array was used to screen methylation status of 22 genes, involved in epithelial to mesenchymal transition. Quantitative real-time methylation specific polymerase chain reaction was performed for candidate gene validation, and methylation levels of renal cell tumors subtypes and normal kidney were determined and compared.

Results

MST1R promoter methylation level was significantly higher in clear cell renal cell carcinoma (median: 5367) compared to other renal cell tumors (median: papillary renal cell carcinoma – 1084, chromophobe renal cell carcinoma – 1023, oncocytoma – 1337) and normal kidney (median: 1125), allowing for accurate discrimination from other renal cell tumors with high sensitivity (>96.7%) and specificity (86.7%).

Conclusion

Quantitative MST1R promoter methylation may be useful as biomarker for accurate diagnosis of clear cell renal cell carcinoma in problematic cases.

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MST1R甲基化作为肾细胞肿瘤的诊断生物标志物

肾细胞肿瘤包括良性的癌细胞瘤和恶性的透明细胞肾细胞癌、乳头状肾细胞癌和嫌色肾细胞癌。由于肾细胞肿瘤在临床、影像学和病理学上的鉴别诊断有时很困难，而且预后差异很大，基于表观遗传学的诊断生物标志物，特别是启动子甲基化，可能有助于准确诊断和治疗计划。材料与方法采用sepitect Methyl II PCR阵列对22个参与上皮细胞向间质细胞转化的基因进行甲基化筛选。采用实时定量甲基化特异性聚合酶链反应对候选基因进行验证，并测定和比较肾细胞肿瘤亚型和正常肾脏的甲基化水平。结果smst1r启动子甲基化水平在透明细胞肾细胞癌中(中位数:5367)明显高于其他肾细胞肿瘤(中位数:乳头状肾细胞癌- 1084、疏色肾细胞癌- 1023、嗜瘤细胞癌- 1337)和正常肾细胞癌(中位数:1125)，具有较高的敏感性(>96.7%)和特异性(86.7%)，能够准确区分其他肾细胞肿瘤。结论MST1R启动子甲基化可作为透明细胞肾细胞癌诊断的生物标志物。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Acta Urológica Portuguesa

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