Chang Ming-Chu, Wu Chih-Horng, Yang Shih-Hung, Liang Po-Chin, Chen Bang-Bin, Jan I-Shiow, Chang Yu-Ting, Jeng Yung-Ming
Department of Internal Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University No.7 Chung Shan South Road, Taipei, Taiwan.
Department of Medical Imaging and Radiology, National Taiwan University Hospital, College of Medicine, National Taiwan University No.7 Chung Shan South Road, Taipei, Taiwan.
Am J Cancer Res. 2017 Feb 1;7(2):357-369. eCollection 2017.
Pancreatic cancer (PC) is usually diagnosed at advanced stage. Our aim was to investigate the risk of malignant and premalignant pancreatic lesions in individuals with family history of PC. Individuals at risk of PC were enrolled prospectively in a screening program in Taiwan. All risk individuals received genetic testing of cationic trypsinogen (PRSS1) gene and the serine protease inhibitor Kazal type 1 (SPINK1) gene. They were stratified into three risk groups (high, moderate, and low) based on the family history and genetic testing. Magnetic resonance imaging (MRI) with magnetic resonance cholangiopancreatogram (MRCP) were performed in all screened individuals. A total of three hundred and three risk individuals in 165 families were enrolled with the mean age of 51.1 years, 38.3% of whom were male. A total of 24 of 303 (7.9%) screened individuals had the PRSS1 mutation, and 7/234 (0.3%) had the SPINK1 mutation. Nineteen (6.3%) risk individuals had pancreatic pathology including seven with pancreatic cancer, and four with pancreatic mucinous neoplasms. The earliest age of onset of PC in affected members was an independent factor associated with risk of developing PC in all risk groups. DM was associated with much-increased risk of developing PC in low and moderate risk groups (OR45.8. 95% CI. 13.82-151.64, P=0.001). Combined family history of non-PC malignancy in the family in the low-risk individual was associated with abnormal findings on MRI (OR8.4, 95% CI 3.29-21.88, P < 0.0001). There was no any complication of screening. In summary, pancreatic cancer screening may benefit in risk individuals with family history of pancreatic cancer in our population. The diagnostic yield is similar to prior studies. MRCP as initial screening modality is safe and effective. Future study will be needed to tailor PC screening strategy in different risk populations.
胰腺癌（PC）通常在晚期才被诊断出来。我们的目的是调查有胰腺癌家族史的个体发生恶性和癌前胰腺病变的风险。有患PC风险的个体被前瞻性纳入台湾的一项筛查项目。所有有风险的个体均接受了阳离子胰蛋白酶原（PRSS1）基因和丝氨酸蛋白酶抑制剂Kazal 1型（SPINK1）基因的基因检测。根据家族史和基因检测，他们被分为三个风险组（高、中、低）。所有接受筛查的个体均进行了磁共振成像（MRI）及磁共振胰胆管造影（MRCP）检查。165个家庭中共有303名有风险的个体入组，平均年龄为51.1岁，其中38.3%为男性。303名接受筛查的个体中共有24名（7.9%）有PRSS1突变，234名中有7名（0.3%）有SPINK1突变。19名（6.3%）有风险的个体有胰腺病变，其中7名患有胰腺癌，4名患有胰腺黏液性肿瘤。受影响成员中PC的最早发病年龄是所有风险组中与发生PC风险相关的独立因素。糖尿病与低风险和中等风险组中发生PC的风险大幅增加相关（OR45.8，95%CI 13.82 - 151.64，P = 0.001）。低风险个体家族中非PC恶性肿瘤的联合家族史与MRI异常结果相关（OR8.4，95%CI 3.29 - 21.88，P < 0.0001）。筛查无任何并发症。总之，在我们的人群中，胰腺癌筛查可能使有胰腺癌家族史的有风险个体受益。诊断率与先前研究相似。MRCP作为初始筛查方式是安全有效的。未来需要开展研究以针对不同风险人群制定PC筛查策略。
