title: PTEN hypermethylation profiles of Chinese Kazakh patients with esophageal squamous cell carcinoma.
abstract: Aberrant DNA methylation of promoter region CpG islands may serve as an alternative mechanism to genetic defects in the inactivation of tumor suppressor genes (TSGs) in human malignancies. The aim of this study was to examine the promoter methylation status of the PTEN TSG and its association with esophageal squamous cell carcinoma (ESCC) carcinogenesis in a Chinese Kazakh population, which is known to have a relatively high ESCC incidence and mortality. The methylation status of the PTEN promoter region was determined in patients with ESCC (n = 95) and healthy individuals (n = 65) using highly sensitive Sequenom Epityper assays. The methylation level of the PTEN gene was significantly higher in patients with ESCC than in healthy controls. The median methylation level was 10.0% (interquartile range [IQR]: 7.0-11.0%) in patients with ESCC and 6.0% in controls (IQR: 4.0-9.0%; P = 0.001). PTEN methylation levels were higher in male patients with ESCC than in male controls, whereas a trend toward significance was observed between female patients with ESCC and female controls (P = 0.005 and P = 0.086, respectively). The PTEN methylation level was associated with histopathological grade and lymph node metastasis in patients with ESCC (P = 0.002 and P = 0.009, respectively). To our knowledge, this is the first report to show the presence of PTEN promoter CpG hypermethylation in ESCC and its association with tumor metastasis.
authors: Department of Pathology and Key Laboratory for Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, China.
authors: Q F
authors: QF
authors: Pan
authors: W T
authors: WT
authors: Li
authors: H C
authors: HC
authors: Dong
authors: Y Z
authors: YZ
authors: Chen
authors: L
authors: L
authors: Yin
authors: W
authors: W
authors: Liu
authors: W W
authors: WW
authors: Wang
authors: D
authors: D
authors: Liu
authors: S G
authors: SG
authors: Li
authors: W Y
authors: WY
authors: Gu
authors: J Z
authors: JZ
authors: Chen
authors: L
authors: L
authors: Yang
authors: W J
authors: WJ
authors: Zhang
authors: F
authors: F
authors: Li
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D018899:CpG Islands; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000473:pathology; D000077277:Esophageal Squamous Cell Carcinoma; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008198:Lymph Nodes / Q000473:pathology; D008207:Lymphatic Metastasis; D008297:Male; D008875:Middle Aged; D060787:Neoplasm Grading; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D011379:Prognosis; D011401:Promoter Regions, Genetic; D012737:Sex Factors
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
keywords: MALDI-TOF; PTEN gene; esophageal carcinoma; promoter methylation