Search

Purpose: Determining the primary origin of non-organ-confined neuroendocrine tumors (NETs) for accurate diagnosis and management. Neuroendocrine tumors are rare neoplasms with diverse clinical behaviors. Determining their primary origin remains challenging in cases of non-organ-confined NETs. This study explores the histogenesis of a retroperitoneal, non-functional NET localized between the duodenum and pancreatic head, utilizing advanced molecular diagnostics to elucidate its probable primary source. Methods: Initial diagnostic methods, including imaging and histopathology, failed to resolve the tumor’s origin. The tumor was subjected to single-cell RNA sequencing (scRNA-seq) and whole exome sequencing (WES). Publicly available transcriptomic datasets from pancreatic and small intestine NETs were used to develop and validate a molecular gene signature for tissue-of-origin identification. Results: The gene signature distinguished pancreatic and small intestine NETs with high accuracy. The tumor cells presented a molecular profile consistent with a pancreatic origin, likely derived from ectopic pancreatic tissue. Conclusions: This case demonstrates the value of integrating scRNA-seq and WES for the molecular characterization of complex NETs. Identifying the tumor’s pancreatic origin informed a targeted management approach, avoiding unnecessary systemic treatment and underscoring the potential of single-cell approaches in personalized oncology. [ABSTRACT FROM AUTHOR]

The presence of a mutation in the BRCA1/2 genes makes it possible to use platinum drugs and PARP inhibitors in patients with pancreatic cancer. Conducting molecular genetic testing allows you to assess the risk of developing malignant neoplasms in a patient and his relatives. We present a series of clinical cases of patients with pancreatic cancer associated with BRCA 1/2. Conducting molecular genetic testing allows you to assess the risk of developing malignant neoplasms in a patient and his relatives. A burdened family history is an indication for molecular genetic diagnosis to identify a pathogenic variant and the possibility of prescribing observation to detect a malignant neoplasm at an early stage. [ABSTRACT FROM AUTHOR]

Autoimmune gastritis (AIG) is an immuno-mediated disease characterized by the production of antibodies to the parietal cells of the stomach, which leads to the loss of the internal Castle factor and decrease in the production of hydrochloric acid. Diagnosis of AIG remains difficult due to the lack of symptoms at early stages, ineffective or costly screening strategies, and incomplete established etiology. Patients with AIG are at high risk of developing malignant neoplasms and neuroendocrine tumors, and they would greatly benefit from any means to predict the likelihood of developing and the severity of a possible disease. Here, we aim to summarize data on the genetic nature of AIG. We will also describe the clinical picture of AIG, Helicobacter pylori association with it, and elaborate on the pathogenesis of the disease. [ABSTRACT FROM AUTHOR]

The etiology of inflammatory bowel diseases (IBD), which includes ulcerative colitis (UC) and Crohn's disease (CD), is not fully resolved. Considering that the interaction of genetic and immunological features, environmental factors, and intestinal microflora leads to the development of the disease, patients with UC and CD especially need a personalized approach to be able to predict the course of the disease and select therapy. The basis of IBD pathogenesis includes changes in the following processes: autophagy, endoplasmic reticulum stress, and the interaction of microflora with intestinal epithelial cells. Polymorphisms in the FUT2, NOD2, HLA, IL1β, and other genes are responsible for the regulation of such processes. The use of NGS sequencing has shown that there is a much wider molecular spectrum than previously known. Further research on epigenetic factors associated with IBD may lead to new therapeutic strategies. Particular attention should be paid to a number of potential clinical applications of epigenetics, such as the use of biomarkers to confirm the diagnosis, predict the course of the disease, and assess the risk of developing malignancies, as well as response to therapy. [ABSTRACT FROM AUTHOR]

Bariatric surgery is the most effective method of morbid obesity treatment. Venous thrombosis is a rare but serious complication that can occur after bariatric surgery. The article presents a clinical observation of thrombosis in a patient after gastric bypass. A 42-year-old patient underwent gastric bypass surgery for grade 2 obesity (BMI 42 kg/m2). Seven months later, the patient turned to the center for personalized medicine of the Moscow Clinical Scientific Center (MCSC) named after A. S. Loginov complaining of the abdominal volume increase. Ascites development was caused by the portal vein thrombosis detected. There were found mutations in the PAI-1, MTR, and MTRR genes, which are responsible for the tendency to develop thrombosis due to disorder of fibrinolysis and hyperhomocysteinemia. Venous thrombosis after gastric bypass surgery is rare (13.8%). In the case described, the complication occurred within 6 months after treatment, which corresponds to 4% of all cases according to the literature. There was no typical clinical picture in the case (82.7% abdominal pain, 38.2% vomiting, 12.7% fever) Shoar et al. (Surg Obes Relat Dis 14(1):47–59, 2018); Salinas et al. (Surg Endosc 28(4):1083–9, 2014); Goitein et al. (JAMA Surg 148(4):340–6, 2013). The pathogenesis has not been fully studied; however, no risk factors (oral contraceptives, injuries, obesity, smoking, coagulopathy) James et al. (Archives of Surgery 144(6):520-526, 2009) were found in the case described, instead genetic mutations were detected. It is obviously important to timely and comprehensively assess the condition of bariatric patients even before surgery, including detection of genetic mutations. [ABSTRACT FROM AUTHOR]

Background: Utilization of bariatric surgery has changed dramatically over the past two decades. The aim of this study was to update the trends in volume and procedural type of bariatric surgery in the USA. Data were derived from the National Inpatient Sample from 2009 through 2012.Methods: We used ICD-9 diagnosis and procedural codes to identify all hospitalizations during which a bariatric procedure was performed for the treatment of severe obesity. The data were reviewed for patient demographics and characteristics, annual number of bariatric operations, and specific procedural types and proportion of laparoscopic cases. The US Census data were used to calculate the population-based annual rate of bariatric surgery per 100,000 adults.Results: Between 2009 and 2012, the number of inpatient bariatric operations ranged between 81,005 and 114,780 cases annually. During this time period, the annual rate of bariatric procedures was highest for 2012 at 47.3 procedures per 100,000 adults. The bariatric surgery approach most commonly performed continues to be laparoscopic, ranging between 93.1 and 97.1 %. In 2012, there was a precipitous reduction in the number of gastric bypass and gastric banding operations and replaced by an increase in the number of sleeve gastrectomy operation. The in-hospital mortality rate remains low, ranging from 0.07 to 0.10 %.Conclusions: In the USA, the annual volume of inpatient bariatric surgery continues to be stable. Utilization of the laparoscopic approach to bariatric surgery remains high, while the in-hospital mortality continues to be low at ≤0.10 % throughout the 4-year period. [ABSTRACT FROM AUTHOR]