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通过对家族性胰腺癌(FPC)家系的二级筛查来识别囊性病变与癌症的分层风险无关。

Identification of Cystic Lesions by Secondary Screening of Familial Pancreatic Cancer (FPC) Kindreds Is Not Associated with the Stratified Risk of Cancer.

机构信息

Department of Molecular and Clinical Cancer Medicine, Institute of Translational Medicine, University of Liverpool, Liverpool, L69 3GA, UK.

Department of Gastroenterology, The Royal Liverpool University Hospital, London, UK.

出版信息

Am J Gastroenterol. 2019 Jan;114(1):155-164. doi: 10.1038/s41395-018-0395-y.

Abstract

OBJECTIVES

Intraductal papillary mucinous neoplasms (IPMNs) are associated with risk of pancreatic ductal adenocarcinoma (PDAC). It is unclear if an IPMN in individuals at high risk of PDAC should be considered as a positive screening result or as an incidental finding. Stratified familial pancreatic cancer (FPC) populations were used to determine if IPMN risk is linked to familial risk of PDAC.

METHODS

This is a cohort study of 321 individuals from 258 kindreds suspected of being FPC and undergoing secondary screening for PDAC through the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC). Computerised tomography, endoscopic ultrasound of the pancreas and magnetic resonance imaging were used. The risk of being a carrier of a dominant mutation predisposing to pancreatic cancer was stratified into three even categories (low, medium and high) based on: Mendelian probability, the number of PDAC cases and the number of people at risk in a kindred.

RESULTS

There was a median (interquartile range (IQR)) follow-up of 2 (0-5) years and a median (IQR) number of investigations per participant of 4 (2-6). One PDAC, two low-grade neuroendocrine tumours and 41 cystic lesions were identified, including 23 IPMN (22 branch-duct (BD)). The PDAC case occurred in the top 10% of risk, and the BD-IPMN cases were evenly distributed amongst risk categories: low (6/107), medium (10/107) and high (6/107) (P = 0.63).

CONCLUSIONS

The risk of finding BD-IPMN was independent of genetic predisposition and so they should be managed according to guidelines for incidental finding of IPMN.

摘要

目的

导管内乳头状黏液性肿瘤(IPMN)与胰腺导管腺癌(PDAC)的风险相关。在 PDAC 高危个体中发现的 IPMN 是视为阳性筛查结果还是偶然发现尚不清楚。本研究使用分层家族性胰腺癌(FPC)人群来确定 IPMN 风险是否与 PDAC 的家族风险相关。

方法

这是一项队列研究,纳入了来自 258 个疑似 FPC 家系的 321 名个体,这些家系正在通过欧洲遗传性胰腺炎和家族性胰腺癌登记处(EUROPAC)接受 PDAC 的二级筛查。使用计算机断层扫描、胰腺内镜超声和磁共振成像。基于孟德尔概率、PDAC 病例数和家系中危险人群数,将导致胰腺癌的显性突变携带者风险分为三个均等类别(低、中、高)。

结果

中位(四分位间距(IQR))随访时间为 2(0-5)年,每位参与者的中位(IQR)检查次数为 4(2-6)次。共发现 1 例 PDAC、2 例低级别神经内分泌肿瘤和 41 个囊性病变,包括 23 例 IPMN(22 例分支胰管(BD))。PDAC 病例发生在风险最高的前 10%,BD-IPMN 病例在风险类别中均匀分布:低(6/107)、中(10/107)和高(6/107)(P=0.63)。

结论

BD-IPMN 的发现风险与遗传易感性无关,因此应根据 IPMN 偶然发现的指南进行管理。

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