Somatic CDKN2A copy number variations are associated with the prognosis of esophageal squamous cell dysplasia

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国家科技期刊平台
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外文摘要：Background:Somatic copy number variations(SCNVs)in the CDKN2A gene are among the most frequent events in the dys-plasia-carcinoma sequence of esophageal squamous cell carcinoma.However,whether CDKN2A SCNVs are useful biomarkers for the risk stratification and management of patients with esophageal squamous cell dysplasia(ESCdys)is unknown.This study aimed to investigate the characteristics and prognostic value of CDKN2A SCNVs in patients with mild or moderate(m/M)ESCdys.Methods:This study conducted a prospective multicenter study of 205 patients with a baseline diagnosis of m/M ESCdys in five high-risk regions of China(Ci County,Hebei Province;Yanting,Sichuan Province;Linzhou,Henan Province;Yangzhong,Jiangsu Province;and Feicheng,Shandong Province)from 2005 to 2019.Genomic DNA was extracted from paraffin biopsy samples and paired peripheral white blood cells from patients,and a quantitative polymerase chain reaction assay,P16-Light,was used to detect CDKN2A copy number.The cumulative regression and progression rates of ESCdys were evaluated using competing risk models.Results:A total of 205 patients with baseline m/M ESCdys were enrolled.The proportion of ESCdys regression was significantly lower in the CDKN2A deletion cohort than in the diploid and amplification cohorts(18.8％[13/69]vs.35.0％[28/80]vs.51.8％[29/56],P＜0.001).In the univariable competing risk analysis,the cumulative regression rate was statistically significantly lower(P=0.008),while the cumulative progression rate was higher(P=0.017)in ESCdys patients with CDKN2A deletion than in those without CDKN2A deletion.CDKN2A deletion was also an independent predictor of prognosis in ESCdys(P=0.004)in the multivariable analysis.Conclusion:The results indicated that CDKN2A SCNVs are associated with the prognosis of ESCdys and may serve as potential biomarkers for risk stratification.

外文关键词：

CDKN2ASomatic copy number variationsEsophageal squamous cell carcinomaEsophageal neoplasmsSquamous intraepithelial lesionsDNA copy number variationsPrognosisProspective study

作者：

Zhiyuan Fan、Jing Zhou、Yuan Tian、Yu Qin、Zhaojun Liu、Liankun Gu、Sanford M.Dawsey、Wenqiang Wei、Dajun Deng

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作者单位：

National Central Cancer Registry,National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100021,China

Key Laboratory of Carcinogenesis and Translational Research(MOE/Beijing),Division of Etiology,Peking University Cancer Hospital and Institute,Beijing 100142,China

Division of Cancer Epidemiology and Genetics,National Cancer Institute,Bethesda,MD,USA

Collaborative Innovation Center for Cancer Personalized Medicine,Nanjing Medical University,Nanjing,Jiangsu 211166,China

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基金：

Beijing Natural Science FoundationCapital's Funds for Health Improvement and ResearchNational Key Research & Development Program of China

项目编号：

71810022018-1-10212016YFC0901404

出版年：

2024

DOI：

10.1097/CM9.0000000000002982

中华医学杂志(英文版)