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家族性胰腺癌家族中亲属筛查的可行性和效果。

Feasibility and yield of screening in relatives from familial pancreatic cancer families.

机构信息

Gastroenterology and Nutrition Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York 10065, USA.

出版信息

Am J Gastroenterol. 2011 May;106(5):946-54. doi: 10.1038/ajg.2011.65. Epub 2011 Apr 5.

Abstract

OBJECTIVES

Pancreatic adenocarcinoma is a lethal disease. Over 80% of patients are found to have metastatic disease at the time of diagnosis. Strategies to improve disease-specific outcome include identification and early detection of precursor lesions or early cancers in high-risk groups. In this study, we investigate whether screening at-risk relatives of familial pancreatic cancer (FPC) patients is safe and has significant yield.

METHODS

We enrolled 309 asymptomatic at-risk relatives into our Familial Pancreatic Tumor Registry (FPTR) and offered them screening with magnetic resonance cholangiopancreaticogram (MRCP) followed by endoscopic ultrasound (EUS) with fine needle aspiration if indicated. Relatives with findings were referred for surgical evaluation.

RESULTS

As of 1 August 2009, 109 relatives had completed at least one cycle of screening. Abnormal radiographic findings were present on initial screening in 18/109 patients (16.5%), 15 of whom underwent EUS. A significant abnormality was confirmed in 9 of 15 patients, 6 of whom ultimately had surgery for an overall diagnostic yield of 8.3% (9/109). Yield was greatest in relatives >65 years old (35%, 6/17) when compared with relatives 55-65 years (3%, 1/31) and relatives <55 years (3%, 2/61).

CONCLUSIONS

Screening at-risk relatives from FPC families has a significant diagnostic yield, particularly in relatives >65 years of age, confirming prior studies. MRCP as initial screening modality is safe and effective.

摘要

目的

胰腺腺癌是一种致命的疾病。超过 80%的患者在诊断时已发现患有转移性疾病。改善疾病特异性结局的策略包括识别和早期发现高危人群中的前驱病变或早期癌症。在这项研究中,我们研究了对家族性胰腺肿瘤(FPC)患者的高危亲属进行筛查是否安全且具有显著效果。

方法

我们将 309 名无症状高危亲属纳入家族性胰腺肿瘤登记处(FPTR),并为他们提供磁共振胰胆管成像(MRCP)筛查,如果有必要,还提供内镜超声(EUS)和细针抽吸检查。有发现的亲属被转介进行手术评估。

结果

截至 2009 年 8 月 1 日,已有 109 名亲属完成了至少一轮筛查。109 名患者中有 18 名(16.5%)在初始筛查时出现异常放射学表现,其中 15 名患者进行了 EUS。15 名患者中有 9 名被证实存在明显异常,其中 6 名最终接受了手术,总诊断率为 8.3%(9/109)。与 55-65 岁(3%,1/31)和<55 岁(3%,2/61)的亲属相比,年龄>65 岁的亲属(35%,6/17)的检出率最高。

结论

对 FPC 家族的高危亲属进行筛查具有显著的诊断效果,尤其是在年龄>65 岁的亲属中,证实了先前的研究。MRCP 作为初始筛查方法是安全有效的。

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