Poley J W, Kluijt I, Gouma D J, Harinck F, Wagner A, Aalfs C, van Eijck C H J, Cats A, Kuipers E J, Nio Y, Fockens P, Bruno M J
Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, 3000 CA, Rotterdam, The Netherlands.
Am J Gastroenterol. 2009 Sep;104(9):2175-81. doi: 10.1038/ajg.2009.276. Epub 2009 Jun 2.
Approximately 10-15% of all pancreatic cancers (PCs) may be hereditary in origin. We investigated the use of endoscopic ultrasonography (EUS) for the screening of individuals at high risk for developing PC. In this paper the results of first-time screening with EUS are presented.
Those eligible for screening in this study were first-degree family members of affected individuals from familial pancreatic cancer (FPC) families, mutation carriers of PC-prone hereditary syndromes, individuals with Peutz-Jeghers syndrome, and mutation carriers of other PC-prone hereditary syndromes with clustering (> or =2 cases per family) of PC. All individuals were asymptomatic and had not undergone EUS before.
Forty-four individuals (M/F 18/26), aged 32-75 years underwent screening with EUS. Thirteen were from families with familial atypical multiple-mole melanoma (FAMMM), 21 with FPC, 3 individuals were diagnosed with hereditary pancreatitis, 2 were Peutz-Jeghers patients, 3 were BRCA1 and 2 were BRCA2 mutation carriers with familial clustering of PC, and 1 individual had a p53 mutation. Three (6.8%) patients had an asymptomatic mass lesion (12, 27, and 50 mm) in the body (n=2) or tail of the pancreas. All lesions were completely resected. Pathology showed moderately differentiated adenocarcinomas with N1 disease in the two patients with the largest lesions. EUS showed branch-type intraductal papillary mucinous neoplasia (IPMN) in seven individuals.
Screening of individuals at a high risk for PC with EUS is feasible and safe. The incidence of clinically relevant findings at first screening is high with asymptomatic cancer in 7% and premalignant IPMN-like lesions in 16% in our series. Whether screening improves survival remains to be determined, as does the optimal screening interval with EUS.
所有胰腺癌(PC)中约10 - 15%可能起源于遗传因素。我们研究了内镜超声检查(EUS)在筛查胰腺癌高危个体中的应用。本文展示了首次使用EUS进行筛查的结果。
本研究中符合筛查条件的人群包括家族性胰腺癌(FPC)家族中受影响个体的一级家庭成员、胰腺癌倾向遗传性综合征的突变携带者、黑斑息肉综合征患者以及其他胰腺癌倾向遗传性综合征且胰腺癌聚集(每个家族≥2例)的突变携带者。所有个体均无症状,且此前未接受过EUS检查。
44名年龄在32 - 75岁的个体(男/女18/26)接受了EUS筛查。其中13人来自家族性非典型多发性痣黑色素瘤(FAMMM)家族,21人来自FPC家族,3人被诊断为遗传性胰腺炎,2人为黑斑息肉综合征患者,3人为BRCA1突变携带者,2人为BRCA2突变携带者且家族中有胰腺癌聚集现象,1人有p53突变。3名(6.8%)患者在胰体(n = 2)或胰尾发现无症状的肿块病变(直径分别为12、27和50毫米)。所有病变均被完整切除。病理显示,两名病变最大的患者为中度分化腺癌伴N1期疾病。EUS在7名个体中显示出分支型导管内乳头状黏液性肿瘤(IPMN)。
用EUS筛查胰腺癌高危个体是可行且安全的。在我们的系列研究中,首次筛查时临床相关发现的发生率较高,无症状癌症的发生率为7%,癌前IPMN样病变的发生率为16%。筛查是否能提高生存率以及EUS的最佳筛查间隔仍有待确定。