Vimalachandran Dale, Ghaneh Paula, Costello Eithne, Neoptolemos John P
Department of Surgery, University of Liverpool, Royal Liverpool University Hospital, United Kingdom.
Cancer Control. 2004 Jan-Feb;11(1):6-14. doi: 10.1177/107327480401100102.
Pancreatic cancer is an aggressive disease with a poor prognosis. Hereditary factors have been reported in up to 10% of cases of pancreatic cancer. The clinical characteristics and genetic abnormalities have been identified for a proportion of this high-risk group, and the development of preventive strategies for these individuals is now a primary goal of cancer clinicians.
A review of the current literature regarding the genetics, screening, and prevention of pancreatic cancer and its precursor lesions was undertaken.
Risk factors for pancreatic cancer include smoking, chronic pancreatitis, and a genetic predisposition. The role of diabetes or a diet high in fat or meat remains unclear. The genetic mutations that accompany pancreatic cancer appear to occur in a temporal sequence, beginning in the earliest of precursor lesions. These mutations are detectable in pancreatic juice and, in conjunction with imaging, form the basis of screening programs for high-risk individuals. Not all precursor lesions will undergo malignant transformation, and testing is currently limited in its ability to determine which lesions will undergo transformation.
Avoiding tobacco smoking and minimizing risk factors associated with chronic pancreatitis are recommended to reduce the risk of pancreatic cancer. Individuals with a high-risk genetic background require counseling, genetic testing if appropriate (BRCA2 mutation or p16INK4A inactivity) and secondary screening for pancreatic cancer in specialist centers. Risk stratification will improve as more genetic abnormalities causing pancreatic cancer are defined.
胰腺癌是一种侵袭性疾病，预后较差。据报道，高达10%的胰腺癌病例存在遗传因素。已确定了该高危人群一部分的临床特征和基因异常情况，为这些个体制定预防策略目前是癌症临床医生的首要目标。
对当前有关胰腺癌及其前驱病变的遗传学、筛查和预防的文献进行了综述。
胰腺癌的危险因素包括吸烟、慢性胰腺炎和遗传易感性。糖尿病或高脂肪或高肉类饮食的作用仍不明确。胰腺癌伴随的基因突变似乎按时间顺序发生，始于最早的前驱病变。这些突变可在胰液中检测到，并与影像学检查相结合，构成高危个体筛查计划的基础。并非所有前驱病变都会发生恶性转化，目前检测在确定哪些病变会发生转化方面的能力有限。
建议避免吸烟并尽量减少与慢性胰腺炎相关的危险因素，以降低患胰腺癌的风险。具有高危遗传背景的个体需要咨询，在适当情况下进行基因检测（BRCA2突变或p16INK4A无活性），并在专科中心接受胰腺癌的二级筛查。随着更多导致胰腺癌的基因异常被确定，风险分层将会改善。
