Genetic Analysis Reveals the Important Role of the APC Gene in Clear Cell Renal Cell Carcinoma

被引：1

作者：

Lai, Yen-Chein ^{[1
,2
]}

Wang, Wen-Chung ^{[3
]}

机构：

[1] Chung Shan Med Univ, Dept Med Lab & Biotechnol, 110,Sec 1,Chien Kuo N Rd, Taichung 402, Taiwan

[2] Chung Shan Med Univ Hosp, Clin Lab, Taichung, Taiwan

[3] Jen Ai Hosp, Dept Obstet & Gynecol, Taichung, Taiwan

来源：

ANTICANCER RESEARCH | 2021年 / 41卷 / 09期

关键词：

Renal cell carcinoma; von Hippel-Lindau gene; tumor suppressor gene; methylation sensitive multiplex ligation-dependent probe amplification analysis; promoter methylation; TUMOR-SUPPRESSOR GENE; DNA METHYLATION; MISMATCH REPAIR; CPG ISLAND; VHL GENE; HYPERMETHYLATION; IDENTIFICATION; MUTATIONS; PROMOTER; CANCER;

D O I：

10.21873/anticanres.15234

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background/Aim: Renal cell carcinoma (RCC) is the most common type of kidney cancer in adults. The aim of this study was to elucidate the molecular pathogenesis of sporadic RCC in Taiwan. Materials and Methods: Fifteen patients with RCC were screened for mutations in the von Hippel-Lindau (VHL) gene by PCR and Sanger sequencing. The methylation status of promoters of 24 tumor suppressor genes by methylation sensitive multiplex ligation-dependent probe amplification analysis was also determined. Results: Inactivation of the VHL gene was observed in 5 cases: three missense somatic mutations, one promoter methylation, and one small deletion. In RCCs, methylation was most frequently observed in APC (100%), CDKN2B (92.9%), CASP8, MLH1_167, and KLLN (85.7.4%), but not in FHIT, MLH1_463, DAPK1, or HIC1 (0%). Conclusion: In addition to VHL inactivation, promoter methylation of APC may be a universal pathognomonic event in the tumorigenesis of RCC and a candidate diagnostic and therapeutic biomarker.

引用

页码：4295 / 4304

页数：10

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