Intraductal papillary neoplasms of the bile ducts: a comparative study of a rare disease in Europe and Nagoya, Japan.

BACKGROUND: Intraductal papillary neoplasm of the bile ducts (IPNB) is a rare disease in Western countries. The aim of this study was to compare tumor characteristics, management strategies, and outcomes between Western and Eastern patients who underwent surgical resection for IPNB. METHODS: A multi-institutional retrospective series of patients with IPNB undergoing surgery between January 2010 and December 2020 was gathered under the auspices of the European-African Hepato-Pancreato-Biliary Association (E-AHPBA), and at Nagoya University Hospital, Japan. RESULTS: A total of 85 patients (51% male; median age 66 years) from 28 E-AHPBA centers were compared to 91 patients (64% male; median age 71 years) from Nagoya. Patients in Europe had more multiple lesions (23% vs 2%, P < .001), less invasive carcinoma (42% vs 85%, P < .001), and more intrahepatic tumors (52% vs 24%, P < .001) than in Nagoya. Patients in Europe experienced less 90-day grade >3 Clavien-Dindo complications (33% vs 68%, P < .001), but higher 90-day mortality rate (7.0% vs 0%, P = .03). R0 resections (81% vs 82%) were similar. Overall survival, excluding 90-day postoperative deaths, was similar in both regions. DISCUSSION: Despite performing more extensive resections, the low perioperative mortality rate observed in Nagoya was probably influenced by a combination of patient-, tumor-, and surgery-related factors.

Intraductal papillary neoplasms of the bile duct: a European retrospective multicenter observational study (EUR-IPNB study).

BACKGROUND/PURPOSE: Intraductal papillary neoplasm of the bile duct (IPNB) is a rare disease in Western countries. The main aim of this study was to characterize current surgical strategies and outcomes in the mainly European participating centers. METHODS: A multi-institutional retrospective series of patients with a diagnosis of IPNB undergoing surgery between 1 January 2010 and 31 December 2020 was gathered under the auspices of the European-African Hepato-Pancreato-Biliary Association. The textbook outcome (TO) was defined as a non-prolonged length of hospital stay plus the absence of any Clavien-Dindo grade at least III complications, readmission, or mortality within 90 postoperative days. RESULTS: A total of 28 centers contributed 85 patients who underwent surgery for IPNB. The median age was 66 years (55-72), 49.4% were women, and 87.1% were Caucasian. Open surgery was performed in 72 patients (84.7%) and laparoscopic in 13 (15.3%). TO was achieved in 54.1% of patients, reaching 63.8% after liver resection and 32.0% after pancreas resection. Median overall survival was 5.72 years, with 5-year overall survival of 63% (95% CI: 50-82). Overall survival was better in patients with Charlson comorbidity score 4 or less versus more than 4 ( P =0.016), intrahepatic versus extrahepatic tumor ( P =0.027), single versus multiple tumors ( P =0.007), those who underwent hepatic versus pancreatic resection ( P =0.017), or achieved versus failed TO ( P =0.029). Multivariable Cox regression analysis showed that not achieving TO (HR: 4.20; 95% CI: 1.11-15.94; P =0.03) was an independent prognostic factor of poor overall survival. CONCLUSIONS: Patients undergoing liver resection for IPNB were more likely to achieve a TO outcome than those requiring a pancreatic resection. Comorbidity, tumor location, and tumor multiplicity influenced overall survival. TO was an independent prognostic factor of overall survival.

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.

BACKGROUND: Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a number of genes, including GBA2. This gene codes for the non-lysososomal ß-glucosylceramidase, which is involved in sphingolipid metabolism through its catalytic role in the degradation of glucosylceramide. However, the mechanism by which GBA2 variants lead to the development of SA is still unclear. METHODS: In this work, we perform next-generation RNA-sequencing (RNA-seq), in an attempt to discover differentially expressed genes (DEGs) in lymphoblastoid, fibroblast cell lines and induced pluripotent stem cell-derived neurons derived from patients with SA, homozygous for the GBA2 c.1780G > C missense variant. We further exploit DEGs in pathway analyses in order to elucidate candidate molecular mechanisms that are implicated in the development of the GBA2 gene-associated SA. RESULTS: Our data reveal a total of 5217 genes with significantly altered expression between patient and control tested tissues. Furthermore, the most significant extracted pathways are presented and discussed for their possible role in the pathogenesis of the disease. Among them are the oxidative stress, neuroinflammation, sphingolipid signaling and metabolism, PI3K-Akt and MAPK signaling pathways. CONCLUSIONS: Overall, our work examines for the first time the transcriptome profiles of GBA2-associated SA patients and suggests pathways and pathway synergies that could possibly have a role in SA pathogenesis. Lastly, it provides a list of DEGs and pathways that could be further validated towards the discovery of disease biomarkers.

Reactive lymphoid hyperplasia of the pancreas: a clinical conundrum.

CONTEXT: Localized reactive lymphoid hyperplasia is a rare condition characterized by the presence of lymphoid follicles. CASE REPORT: We describe a case of a 60-year-old woman who presented with right upper quadrant pain and was found to have a reactive nodular hyperplasia of the pancreas involving the uncinate process, body and tail of the gland. Due to the multifocal distribution of these hypoechoic vascular lesions, a total pancreatectomy was performed since malignancy could not be safely excluded. CONCLUSION: There have been a handful of cases reporting reactive lymphoid hyperplasia affecting the pancreas; however, it is uncommon to perform such a radical pancreatic resection for this benign condition.

Primary follicular lymphoma of the extrahepatic bile duct mimicking a hilar cholangiocarcinoma: case report and review of the literature.

We report a case of a 53-year-old Asian woman who presented with abdominal pain, bloating, dysphagia, and signs of incomplete biliary obstruction, having elevated liver function tests but without increased bilirubin. Imaging studies revealed a mass measuring 6.0 x 8.0 cm at the porta hepatis extending to the right lobe of the liver and obstructing the common hepatic duct, causing mild to moderate intrahepatic biliary dilation and variable occlusion of the right portal vein. At laparotomy, an infiltrative neoplasm was noted at the hilum that involved the common bile duct, right and left hepatic ducts, and the right lobe of the liver. Extended right hepatectomy and resection of the extrahepatic bile duct and right portal vein was performed. Histologic examination revealed a high grade follicular lymphoma (grade 3A) with a predominantly follicular pattern of growth. Portal lymph nodes and a staging bone marrow biopsy showed no evidence of lymphoma. The patient subsequently received chemotherapy. Postoperative follow-up of more than 4 years has been uneventful, without disease recurrence. To the best of our knowledge, this is the third report of a primary extranodal follicular lymphoma of the extrahepatic biliary system.

Combined laparoscopic and endoscopic approach for the management of two ingested sewing needles: one migrated into the liver and one stuck in the duodenum.

In this paper, we present the case of a 35-year-old Caucasian female, instituted for depression, who swallowed two sewing needles. Despite the fact that the patient on presentation was asymptomatic with a normal clinical examination and blood tests, the workup revealed a contained perforation of the upper gastrointestinal tract (GI) and a migration of one needle to the liver. Moreover, the endoscopy alone failed to remove the other needle, which was stuck in the duodenal wall and, therefore, a combined endoscopic and laparoscopic approach was successfully applied to remove both needles through the abdominal wall. The postoperative recovery was immediate and the patient was discharged after 24 hours. Our aim in this study was, to introduce a combined laparoscopic and endoscopic approach for the removal of any sharp object that gets stuck in the stomach or duodenal wall. Such a technique can be used in difficult cases where endoscopy alone fails to remove sharp objects that get stuck in the alimentary track and where the risk of complications is high. Moreover, we want to discuss the safety and efficacy of the laparoscopic approach in the management of the rare cases of migrated sharp objects from the upper GI tract to the abdominal cavity, provided there is a good preoperative localization. This combined technique has shown excellent results; it is safe and easy to perform and a laparotomy can be avoided. Moreover, the laparoscopic approach is a safe, efficient approach to remove those sharp objects that have migrated into the peritoneal cavity.