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在高危患者的前瞻性队列中进行胰腺癌筛查:影像学和遗传学的综合策略。

Pancreatic cancer screening in a prospective cohort of high-risk patients: a comprehensive strategy of imaging and genetics.

机构信息

Division of Digestive and Liver Diseases, Department of Medicine, Muzzi Mirza Pancreatic Cancer Prevention, Columbia University College of Physicians and Surgeons, New York, New York 10032-3784, USA.

出版信息

Clin Cancer Res. 2010 Oct 15;16(20):5028-37. doi: 10.1158/1078-0432.CCR-09-3209. Epub 2010 Sep 28.

Abstract

PURPOSE

Pancreatic cancer is a virtually uniformly fatal disease. We aimed to determine if screening to identify curable neoplasms is effective when offered to patients at high risk.

EXPERIMENTAL DESIGN

Patients at high risk of pancreatic cancer were prospectively enrolled into a screening program. Endoscopic ultrasound (EUS), magnetic resonance imaging (MRI), and genetic testing were offered by a multidisciplinary team according to each patient's risk.

RESULTS

Fifty-one patients in 43 families were enrolled, with mean age of 52 years, 35% of whom were male. Of these patients, 31 underwent EUS and 33 MRI. EUS revealed two patients with pancreatic cancer (one resectable, one metastatic), five with intraductal papillary mucinous neoplasms (IPMN), seven with cysts, and six with parenchymal changes. Five had pancreatic surgery (one total pancreatectomy for pancreatic cancer, three distal and one central pancreatectomy for pancreatic intraepithelial neoplasia 2 and IPMN). A total of 24 (47%) had genetic testing (19 for BRCA1/2 mutations, 4 for CDKN2A, 1 for MLH1/MSH2) and 7 were positive for BRCA1/2 mutations. Four extrapancreatic neoplasms were found: two ovarian cancers on prophylactic total abdominal hysterectomy and bilateral salpingo-oophorectomy, one carcinoid, and one papillary thyroid carcinoma. Overall, 6 (12%) of the 51 patients had neoplastic lesions in the pancreas and 9 (18%) had neoplasms in any location. All were on the initial round of screening. All patients remain alive and without complications of screening.

CONCLUSIONS

Pancreatic cancer screening for high-risk patients with a comprehensive strategy of imaging and genetics is effective and identifies curable neoplasms that can be resected. Ongoing study will better define who will benefit from screening and what screening strategy will be the most effective.

摘要

目的

胰腺癌几乎是一种普遍致命的疾病。我们旨在确定对高危患者进行筛查以识别可治愈的肿瘤是否有效。

实验设计

高危胰腺癌患者前瞻性入组筛查计划。根据每位患者的风险,多学科团队提供内镜超声(EUS)、磁共振成像(MRI)和基因检测。

结果

43 个家族的 51 名患者入组,平均年龄为 52 岁,35%为男性。其中 31 名患者行 EUS,33 名患者行 MRI。EUS 发现 2 例胰腺癌(1 例可切除,1 例转移性)、5 例胰管内乳头状黏液性肿瘤(IPMN)、7 例囊肿和 6 例实质改变。5 例患者行胰腺手术(1 例因胰腺癌行全胰切除术,3 例因胰腺上皮内瘤变 2 级和 IPMN 行远端和 1 例中央胰切除术)。共 24 例(47%)进行基因检测(19 例检测 BRCA1/2 突变,4 例检测 CDKN2A,1 例检测 MLH1/MSH2),7 例 BRCA1/2 突变阳性。发现 4 例胰外肿瘤:2 例预防性全腹部子宫切除术和双侧输卵管卵巢切除术的卵巢癌、1 例类癌和 1 例甲状腺乳头状癌。总的来说,51 例患者中 6 例(12%)胰腺有肿瘤病变,9 例(18%)任何部位有肿瘤。所有患者均在初次筛查中发现。所有患者均存活且无筛查相关并发症。

结论

对高危患者进行全面的影像学和遗传学筛查策略是有效的,可以识别可切除的肿瘤。正在进行的研究将更好地确定谁将从筛查中受益以及哪种筛查策略最有效。

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