Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Lancet Gastroenterol Hepatol. 2017 Jan;2(1):63-72. doi: 10.1016/S2468-1253(16)30084-X. Epub 2016 Dec 10.
Pancreatic cysts are a clinical quandary in both diagnosis and management. Although many cysts, such as pseudocysts and serous cystadenomas, are benign and can be monitored clinically, mucinous cysts, such as intraductal papillary mucinous neoplasms and mucinous cystic neoplasms, have the potential to progress to pancreatic cancer. Considering the poor prognosis of pancreatic cancer, the detection of a pancreatic cyst can be a source of anxiety for both the patient and physician. This diagnosis in turn can lead to expensive, invasive, and even harmful surveillance and treatment options. As a consequence, several national and international guidelines for the management of pancreatic cysts have been developed over the past decade. However, these guidelines rely on standard clinical assessment, radiographical imaging, and ancillary fluid studies that have insufficient sensitivity and specificity. The application of DNA-based molecular techniques has emerged as an adjunct to the assessment of pancreatic cysts. The cellular content of pancreatic cyst fluid aspirate is often suboptimal for analysis, but DNA isolated from lysed or exfoliated cells within the cyst can be analysed for genetic abnormalities. Moreover, whole exome sequencing and targeted sequencing of the major pancreatic cysts has identified unique mutational profiles for cyst type and genetic alterations that coincide with the development of pancreatic cancer. In this Review, we discuss the major cystic lesions of the pancreas and their underlying molecular pathology, current management guidelines for pancreatic cysts, and integration of DNA-based molecular testing within this field.
胰腺囊肿在诊断和治疗方面都是临床难题。虽然许多囊肿，如假性囊肿和浆液性囊腺瘤，是良性的，可以进行临床监测，但黏液性囊肿，如导管内乳头状黏液性肿瘤和黏液性囊腺瘤，有进展为胰腺癌的潜力。考虑到胰腺癌的预后不良，胰腺囊肿的检测可能会给患者和医生带来焦虑。这种诊断反过来又会导致昂贵、侵入性甚至有害的监测和治疗选择。因此，在过去十年中，已经制定了几项关于胰腺囊肿管理的国家和国际指南。然而，这些指南依赖于标准的临床评估、影像学成像和辅助液研究，这些方法的敏感性和特异性不足。基于 DNA 的分子技术的应用已成为评估胰腺囊肿的辅助手段。胰腺囊肿液抽吸的细胞含量通常不适合分析，但可以分析从囊内裂解或脱落细胞中分离出的 DNA 是否存在遗传异常。此外，对主要胰腺囊肿的全外显子组测序和靶向测序确定了与胰腺癌发展一致的囊肿类型和遗传改变的独特突变谱。在这篇综述中，我们讨论了胰腺的主要囊性病变及其潜在的分子病理学、胰腺囊肿的现行管理指南，以及将基于 DNA 的分子检测整合到这一领域。
