Bunganič Bohuš, Hálková Tereza, Benešová Lucie, Belšánová Barbora, Laclav Martin, Hrůzová Martina, Traboulsi Eva, Frič Přemysl, Suchánek Štěpán, Minárik Marek, Zavoral Miroslav
Cas Lek Cesk. 2016;155(1):48-51.
Differential diagnosis of solid pancreatic masses using EUS FNA is in 1015 % of cases still challenging. Promising method, which helps to distinguish between chronic pancreatitis and cancer, is point mutations of the proto-oncogene KRAS test. This method is not established in routine clinical practice yet.Objectives were the determination of the sensitivity of the KRAS assay using various kinds of samples of patients with pancreatic mass and testing the effect of the presence of KRAS mutations on the prognosis of survival. 147 patients underwent EUS-FNA examination of pancreatic mass, accompanied by blood sampling with subsequent separation of plasma for the detection of circulating tumor DNA. Part of biopsy sample was left native in a stabilizing solution and part as cytological smear. Samples (native aspirates, cytological smears, plasma) were examined for the presence of KRAS mutation by heteroduplex analysis, denaturing capillary electrophoresis.Among 147 patients with pancreatic masses, 118 were diagnosed as a cancer, 26 chronic pancreatitis, 3 neuroendocrine tumor. In total 147 native aspirates, 118 cytological smears and 94 plasma samples were examined. The highest sensitivity of KRAS mutation was reached in the group of pancreatic cancer patients using cytology, in which 90 % of KRAS mutation was detected (106/118 of the samples). When using the native cellular aspirates, mutation was detected in 78 % (92/118 samples), and examination of plasma was positive in 27 % (24/90 samples). In four patients with chronic pancreatitis KRAS mutations was detected, although none has been cytologically confirmed as a cancer. Two of these four patients were confirmed in the course of the disease as a cancer, one patient died because of alcoholic delirium and the last one was indicated for surgery recently.Examination of KRAS mutations can be performed in all patients undergoing EUS-FNA, with the cytology being the most reliable type of sample for genetic tests. KRAS examination would be reasonable to introduce into routine clinical practice in a group of patients with unclear differential diagnosis of chronic pancreatitis, especially in those with suspicion of cancer in inflammatory terrain.Kexwords: pancreatic cancer, chronic pancreatitis, KRAS mutation , EUS-FNA.
使用超声内镜引导下细针穿刺活检（EUS FNA）对胰腺实性肿块进行鉴别诊断，在10%至15%的病例中仍然具有挑战性。有助于区分慢性胰腺炎和癌症的一种有前景的方法是原癌基因KRAS检测的点突变。该方法尚未在常规临床实践中确立。目的是确定使用胰腺肿块患者的各种样本进行KRAS检测的敏感性，并测试KRAS突变的存在对生存预后的影响。147例患者接受了胰腺肿块的EUS - FNA检查，并同时采集血液，随后分离血浆以检测循环肿瘤DNA。活检样本的一部分留在稳定溶液中保持原状，另一部分制成细胞学涂片。通过异源双链分析、变性毛细管电泳检测样本（原状吸出物、细胞学涂片、血浆）中KRAS突变的存在。在147例胰腺肿块患者中，118例被诊断为癌症，26例为慢性胰腺炎，3例为神经内分泌肿瘤。总共检查了147份原状吸出物、118份细胞学涂片和94份血浆样本。在胰腺癌患者组中，使用细胞学检测KRAS突变的敏感性最高，其中检测到90%的KRAS突变（118个样本中的106个）。使用原状细胞吸出物时，78%（118个样本中的92个）检测到突变，血浆检测阳性率为27%（90个样本中的24个）。在4例慢性胰腺炎患者中检测到KRAS突变，尽管细胞学上均未确诊为癌症。这4例患者中有2例在病程中被确诊为癌症，1例因酒精性谵妄死亡，最后1例最近被建议进行手术。对所有接受EUS - FNA的患者都可以进行KRAS突变检测，其中细胞学检查是基因检测最可靠的样本类型。对于慢性胰腺炎鉴别诊断不明确的患者群体，尤其是那些在炎症背景下怀疑患有癌症的患者，将KRAS检测引入常规临床实践是合理的。关键词：胰腺癌；慢性胰腺炎；KRAS突变；超声内镜引导下细针穿刺活检
