Purpose Deleterious germline mutations contribute to pancreatic cancer susceptibility and are well documented in families in which multiple members have had pancreatic cancer. Methods To define the prevalence of these germline mutations in patients with apparently sporadic pancreatic cancer, we sequenced 32 genes, including known pancreatic cancer susceptibility genes, in DNA prepared from normal tissue obtained from 854 patients with pancreatic ductal adenocarcinoma, 288 patients with other pancreatic and periampullary neoplasms, and 51 patients with non-neoplastic diseases who underwent pancreatic resection at Johns Hopkins Hospital between 2000 and 2015. Results Thirty-three (3.9%; 95% CI, 3.0% to 5.8%) of 854 patients with pancreatic cancer had a deleterious germline mutation, 31 (3.5%) of which affected known familial pancreatic cancer susceptibility genes: BRCA2 (12 patients), ATM (10 patients), BRCA1 (3 patients), PALB2 (2 patients), MLH1 (2 patients), CDKN2A (1 patient), and TP53 (1 patient). Patients with these germline mutations were younger than those without (mean ± SD, 60.8 ± 10.6 v 65.1 ± 10.5 years; P = .03). Deleterious germline mutations were also found in BUB1B (1) and BUB3 (1). Only three of these 33 patients had reported a family history of pancreatic cancer, and most did not have a cancer family history to suggest an inherited cancer syndrome. Five (1.7%) of 288 patients with other periampullary neoplasms also had a deleterious germline mutation. Conclusion Germline mutations in pancreatic cancer susceptibility genes are commonly identified in patients with pancreatic cancer without a significant family history of cancer. These deleterious pancreatic cancer susceptibility gene mutations, some of which are therapeutically targetable, will be missed if current family history guidelines are the main criteria used to determine the appropriateness of gene testing.

This study demonstrated comparable technical and clinical success rates between EUS-BD and ERCP in relief malignant distal biliary obstruction. Substantially longer duration of patency coupled with lower rates of adverse events and reintervention, and more preserved QOL were observed with EUS-BD (cris.nih.go.kr, Identifier: KCT0001396, https://cris.nih.go.kr/cris/search/search_result_st01_en.jsp?seq=9716<ype=&rtype= ).

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EUS-BD and PTBD had similar levels of efficacy in patients with unresectable malignant distal biliary obstruction and inaccessible papilla based on rates of technical and functional success and QOL. However, EUS-BD produced fewer procedure-related adverse events and unscheduled re-interventions. Clinical trial registration no: cris.nih.go.kr/KCT0001370.

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EUS-FNA with a 19-gauge aspiration needle may be a valuable method for the diagnosis of pancreatic/peripancreatic masses when an on-site cytopathologist is not available.

Background/AimsWe aimed to evaluate survival time and prognostic factors in patients with advanced unresectable cholangiocarcinoma who have not received surgery, chemotherapy, or radiotherapy.MethodsA total of 1,377 patients, who were diagnosed with primary cholangiocarcinoma between 1996 and 2002, were reviewed retrospectively according to the following inclusion criteria: histologically proven primary adenocarcinoma arising from the bile-duct epithelium, advanced unresectable stages, no severe comorbidity that can affect survival time, and no history of surgery, chemotherapy, or radiotherapy.ResultsOf the 1,377 cases reviewed, 330 patients complied with the inclusion criteria and were thus eligible to participate in this study; 203 had intrahepatic cholangiocarcinoma and 127 had hilar cholangiocarcinoma. The overall survival time of the entire cohort (n=330) was median 3.9 months (range; 0.2 to 67.1). The survival time was significantly shorter in the intrahepatic cholangiocarcinoma group (3.0±5.3 months) than in the hilar cholangiocarcinoma group (5.9±10.1 months; Kaplan-Meier survival analysis). Multivariate analysis revealed that distant metastasis was a poor prognostic factor for intrahepatic cholangiocarcinoma (p< 0.001), baseline serum albumin >3.0 g/dL was a favorable prognostic factor (p=0.02), and baseline serum carcinoembryonic antigen level >30 ng/mL was a poor prognostic factor for hilar cholangiocarcinoma (p=0.01).ConclusionsThe median survival of advanced unresectable cholangiocarcinoma is dismal.

respectively). Using the cutoff value for strain ratio of 2.25, 17 out of the 22 patients (77.3%) with 3 or 4 EUS criteria of CP had an abnormal pancreas, whereas 5 patients had a strain ratio <2.25. Importantly, even in patients with epigastric pain, the strain ratio was significantly higher in those finally diagnosed as CP (2.68, 95% CI 2.48-2.89) than in whom the disease was excluded (1.80, 95% CI 1.73-1.87; P < 0.0001). Using Rosemont classification, 99 patients (51.8%) were considered to have a normal pancreas, 22 (11.5%) were indeterminate for CP, 45 (23.6%) were suggestive of CP, and 25 (13.1%) were consistent with CP. The strain ratio was found to be significantly different in the four Rosemont groups (P < 0.001). Also, the strain ratio was found to be similar in patients with CP when compared with CP of other etiologies as well as in patients with different age groups. The authors concluded that quantitative EUS-elastography associated with EUS morphological assessment of the pancreas appears to be a useful tool for the diagnosis of CP as specific strain ratios were obtained that showed an excellent accuracy for the diagnosis of CP and thus supporting the more subjective EUS findings.