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Detection of Ki-ras gene point mutations in bile specimens for the differential diagnosis of malignant and benign biliary strictures

机译:检测胆汁标本中的Ki-ras基因点突变,以鉴别诊断恶性和良性胆道狭窄

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摘要

BACKGROUND AND AIM—The present study was undertaken to determine if detection of Ki-ras gene point mutations in bile specimens could differentiate between benign and malignant biliary strictures.
PATIENTS—Bile specimens were obtained from 117 patients exhibiting a stricture of the main bile duct, the nature of which was assessed by cholangiography, histology, and follow up.
METHODS—DNA from frozen bile specimens was extracted, amplified, and tested for codon 12 point mutations of Ki-ras gene using sequence specific oligonucleotide hybridisation and mutant allele specific amplification.
RESULTS—DNA amplification was successful in 110/117 bile specimens (94%). Detection of Ki-ras gene mutations in bile specimens was positive in 24.4% (22/90) of patients with malignant strictures, in 31.4% (22/70) when only primary malignant tumours were considered, and in 4% (1/25) of patients with benign strictures. Of the 49 patients with histological specimens obtained before surgery, the sensitivity of histology, Ki-ras mutation analysis, and combined methods was 59.2%, 28.6%, and 73.5% respectively.
CONCLUSIONS—Our study showed that Ki-ras mutations may be detected in about one third of bile specimens from patients with primary tumours invading the main bile duct. Detection of such mutations appears to be specific and may help to differentiate between benign and malignant biliary strictures.


Keywords: biliary strictures; bile specimens; Ki-ras gene mutations
机译:背景与目的:本研究旨在确定胆汁标本中Ki-ras基因点突变的检测能否区分良性和恶性胆道狭窄。患者-胆汁标本取自117位表现出主胆管狭窄的患者,其性质通过胆管造影,组织学和随访进行评估。方法—使用序列特异性寡核苷酸杂交和突变体等位基因特异性扩增,提取,扩增并从冷冻胆汁样本中提取DNA,并检测Ki-ras基因的密码子12点突变。结果— 110/117胆汁标本中的DNA扩增成功(94%)。在胆汁标本中,胆汁标本中Ki-ras基因突变的检测阳性率为24.4%(22/90),仅考虑原发性恶性肿瘤的检测率为31.4%(22/70),4%(1/25)为阳性)患有良性狭窄的患者。在手术前获得的49例组织学标本患者中,组织学敏感性,Ki-ras突变分析和联合方法分别为59.2%,28.6%和73.5%。结论—我们的研究表明,在原发肿瘤侵犯主胆管的患者中,大约有三分之一的胆汁标本中可检测到Ki-ras突变。检测此类突变似乎是特异性的,可能有助于区分良性和恶性胆道狭窄。关键字:胆道狭窄;胆汁标本Ki-ras基因突变

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