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超声内镜引导下细针穿刺活检基因突变分析在鉴别自身免疫性胰腺炎和胰腺癌中的作用。

EUS-FNA mutational analysis in differentiating autoimmune pancreatitis and pancreatic cancer.

机构信息

University of Pittsburgh Medical Center, Pittsburgh, Pa., USA.

出版信息

Pancreatology. 2011;11(5):482-6. doi: 10.1159/000331505. Epub 2011 Oct 11.

Abstract

BACKGROUND/AIMS: Autoimmune pancreatitis (AIP) may mimic pancreatic cancer (PC). The detection of DNA mutations in endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) material may improve discrimination between AIP and PC and is the context for this study.

METHODS

In a retrospective study, archived EUS-FNA material from patients with AIP and PC at two centers was analyzed for KRAS mutations and loss-of-heterozygosity analysis involving 18 microsatellite markers. KRAS status and the fractional allelic loss (number of affected microsatellites divided by informative ones) were compared for AIP and PC.

RESULTS

Thirty-two patients with 33 samples were studied. There were 16 patients with AIP (17 samples) and 16 patients with PC. DNA amplification failed in 7 samples. Of 25 patients (26 samples), 14 had AIP (7 male, age 57 ± 17 years; mean ± SD) and 11 had PC (7 male, age 65 ± 14 years; mean ± SD). Cytology results for AIP were inflammatory = 3, inconclusive = 10, suspicious for malignancy = 2 and for PC were malignant = 5, suspicious for malignancy = 4 and inconclusive = 2, respectively. KRAS mutation was detected in none of the AIP cases and 10/11 PC cases (91%, Pearson χ(2) = 22.16, p < 0.001) or 10/16 PC cases (63%) accounting for PC cases with failed DNA amplification. Mean (±SD) fractional allelic loss for the AIP cases (0.16 ± 0.15) was not significantly different from the PC cases (0.26 ± 0.19).

CONCLUSIONS

A KRAS mutation in EUS/FNA material from a pancreatic mass is associated with malignancy and may help discriminate from benign conditions such as AIP.

摘要

背景/目的:自身免疫性胰腺炎(AIP)可能与胰腺癌(PC)相似。在超声内镜引导下细针穿刺(EUS-FNA)标本中检测 DNA 突变可能有助于区分 AIP 和 PC,这就是本研究的背景。

方法

在一项回顾性研究中,分析了来自两个中心的 AIP 和 PC 患者的 EUS-FNA 标本,以检测 KRAS 突变和涉及 18 个微卫星标记的杂合性丢失分析。比较了 AIP 和 PC 中 KRAS 状态和等位基因丢失分数(受影响微卫星数除以信息微卫星数)。

结果

研究了 32 名患者的 33 个样本。16 名患者为 AIP(17 个样本),16 名患者为 PC。7 个样本的 DNA 扩增失败。在 25 名患者(26 个样本)中,14 名患有 AIP(7 名男性,年龄 57 ± 17 岁;均数 ± 标准差),11 名患有 PC(7 名男性,年龄 65 ± 14 岁;均数 ± 标准差)。AIP 的细胞学结果为炎症=3,不确定=10,疑似恶性=2,PC 的细胞学结果为恶性=5,疑似恶性=4,不确定=2。在 AIP 病例中未检测到 KRAS 突变,在 11/11 PC 病例(91%,Pearson χ²=22.16,p<0.001)或 16/16 PC 病例(63%)中有 10 例存在 KRAS 突变,这些病例的 DNA 扩增失败。AIP 病例的平均(±标准差)等位基因丢失分数(0.16 ± 0.15)与 PC 病例(0.26 ± 0.19)无显著差异。

结论

在胰腺肿块的 EUS/FNA 标本中检测到 KRAS 突变与恶性肿瘤相关,可能有助于区分 AIP 等良性疾病。

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