实时PCR和数字PCR检测埃及肝癌患者循环肿瘤DNA突变位点tp53 rs28934571的临床应用价值评价

Safeya Maghraby, A. Ibrahim, Iman Montasser, Zeinab M. Hefny, M. Abdelwahed, Y. Massoud
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摘要

肝癌已被认为是全球第六大癌症病因。在埃及,它是导致癌症的第四大原因,也是导致死亡的第二大原因。P53被认为是基因组的守护者,可以防止导致恶性肿瘤的致癌突变的积累。本研究通过比较正常人、慢性肝病患者和肝癌患者的热点突变基因位点TP53 rs28934571 (c.747G>T)的循环肿瘤DNA (ctDNA),评价其诊断价值,并分析针对热点突变基因位点TP53 rs28934571 (c.747G>T)的ctDNA。结果显示,在100名成人中,G1: 80例(80%)患者被诊断为HCV之上的HCC, 10例(10%)为HCV患者,10例(10%)为健康对照。所有组的年龄和性别都是匹配的。与健康对照组相比,HCC患者AST增高(P =0.018), 40例(50%)符合米兰标准,12例(15%)符合USCF标准,28例(35%)超出标准,其中儿童A 39例(48.75%),平均评分为12.45±5.94。单灶性病变40例(50%),双灶性病变16例,四灶性病变8例,多发灶性病变6例。病灶大小平均为(5.58±3.66)cm。HCC患者中出现腹水38例(47.5%),PVT 35例(43.75%),脑病9例(11.25%)。HCC患者、HCV患者和健康对照组基因分型差异无统计学意义(p =0.622)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
EVALUATION OF CLINICAL UTILITY OF DETECTING CIRCULATING TUMOR DNA MUTATION GENE LOCUS TP53 RS28934571 USING REAL TIME PCR AND DROPLET DIGITAL PCR IN EGYPTIAN HEPATOCELLULAR CARCINOMA PATIENTS
Liver cancer has been known to be the sixth cause of cancer worldwide. In Egypt, it is the fourth cause of cancer and the second -related mortality . The P53 is considered the guardian of the genome to prevent accumulation of oncogenic mutations that lead to malignant tumor. The study compared the circulating tumor DNA (ctDNA) by targeting hotspot mutation gene locus TP53 rs28934571 (c.747G>T) in normal persons, chronic liver disease patients, and in hepatocellular carcinoma ( HCC) ones to evaluate its diagnostic value and analyses the ctDNA by targeting the hotspot mutation gene locus TP53 rs28934571 (c.747G>T). The results showed that of 100 adults, G1: Eighty (80%) patients were diagnosed as HCC on top of HCV, ten (10%) as HCV patients and ten (10%) healthy controls. All groups were matched as to age and sex. The AST was increased in HCC patients as compared to healthy con-trol ( P =0.018), forty patients (50%) were within Milan criteria, 12 patients (15%) within USCF, 28 (35%) were beyond all of whom 39 (48.75%) patients were child A with mean score of 12.45±5.94. Forty (50%) patients had one focal lesion, 16 patients had two focal lesions, eight patients had four focal lesions and six patients had multiple lesions. The average size of lesion in cm was (5.58±3.66). Among the HCC patients 38 (47.5%) patients developed ascites, 35 (43.75%) patients developed PVT and 9 (11.25%) patients developed encephalopathy . There was no significant difference in genetic typing between HCC patients, HCV ones and healthy controls (p =0.622) .
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