-
United European Gastroenterology Journal May 2021Adenomatous polyposis (AP) diseases, including familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and MUTYH-associated polyposis (MAP), are the second most... (Review)
Review
Adenomatous polyposis (AP) diseases, including familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and MUTYH-associated polyposis (MAP), are the second most common hereditary causes of colorectal cancer. A frequent extra-colonic manifestation of AP disease is duodenal polyposis, which may lead to duodenal cancer in up to 18% of AP patients. Endoscopic surveillance is recommended at 0.5- to 5-year intervals depending on the extent of polyp growth and histological progression. Although the Spigelman classification is traditionally used to determine surveillance intervals, it lacks information on the (peri-)ampullary site, where 50% of duodenal carcinomas are located. Hence, information on the papilla has recently been added as a prognostic marker. Patients with duodenal adenoma(s) ≥10 mm and ampullary adenomas of any size are suggested to be referred to an expert center for endoscopic therapy, particularly endoscopic mucosal resection and endoscopic ampullectomy. Nonetheless, despite the logic of this approach, the long-term efficacy of endoscopic therapy is still to be demonstrated.
Topics: Adenomatous Polyposis Coli; Duodenal Neoplasms; Duodenoscopy; Endoscopic Mucosal Resection; Humans; Male; Middle Aged; Neoplasm Staging; Patient Compliance; Prognosis; Time Factors
PubMed: 34529357
DOI: 10.1002/ueg2.12071 -
Neuroendocrinology 2021Small intestinal neuroendocrine tumors (SI-NETs) are difficult to diagnose in the early stage of disease. Current blood biomarkers such as chromogranin A (CgA) and...
BACKGROUND
Small intestinal neuroendocrine tumors (SI-NETs) are difficult to diagnose in the early stage of disease. Current blood biomarkers such as chromogranin A (CgA) and 5-hydroxyindolacetic acid have low sensitivity (SEN) and specificity (SPE). This is a first preplanned interim analysis (Nordic non-interventional, prospective, exploratory, EXPLAIN study [NCT02630654]). Its objective is to investigate if a plasma protein multi-biomarker strategy can improve diagnostic accuracy (ACC) in SI-NETs.
METHODS
At the time of diagnosis, before any disease-specific treatment was initiated, blood was collected from patients with advanced SI-NETs and 92 putative cancer-related plasma proteins from 135 patients were analyzed and compared with the results of age- and sex-matched controls (n = 143), using multiplex proximity extension assay and machine learning techniques.
RESULTS
Using a random forest model including 12 top ranked plasma proteins in patients with SI-NETs, the multi-biomarker strategy showed SEN and SPE of 89 and 91%, respectively, with negative predictive value (NPV) and positive predictive value (PPV) of 90 and 91%, respectively, to identify patients with regional or metastatic disease with an area under the receiver operator characteristic curve (AUROC) of 99%. In 30 patients with normal CgA concentrations, the model provided a diagnostic SPE of 98%, SEN of 56%, and NPV 90%, PPV of 90%, and AUROC 97%, regardless of proton pump inhibitor intake.
CONCLUSION
This interim analysis demonstrates that a multi-biomarker/machine learning strategy improves diagnostic ACC of patients with SI-NET at the time of diagnosis, especially in patients with normal CgA levels. The results indicate that this multi-biomarker strategy can be useful for early detection of SI-NETs at presentation and conceivably detect recurrence after radical primary resection.
Topics: Biomarkers; Duodenal Neoplasms; Humans; Ileal Neoplasms; Jejunal Neoplasms; Machine Learning; Neuroendocrine Tumors
PubMed: 32721955
DOI: 10.1159/000510483 -
PBRM1 presents a potential prognostic marker and therapeutic target in duodenal papillary carcinoma.Clinical and Translational Medicine Oct 2022Due to its rarity, duodenal papillary carcinoma (DPC) is seldom studied as a unique disease and no specific molecular features or treatment guidelines are provided.
BACKGROUND
Due to its rarity, duodenal papillary carcinoma (DPC) is seldom studied as a unique disease and no specific molecular features or treatment guidelines are provided.
METHODS
Whole-exome sequencing was performed to gain new insights into the DPC mutation landscape and to identify potential signalling pathways and therapeutic targets. Mechanistically, immunohistochemistry (IHC), immunofluorescence, RNA-seq, ATAC-seq and in vitro cell function experiments were performed to confirm the underlying mechanisms.
RESULTS
We described the mutational landscape of DPC for the first time as a group of rare tumours with a high frequency of dysregulation in the chromatin remodelling pathway, particularly PBRM1-inactivating mutations that are significantly higher than duodenal adenocarcinomas and ampullary adenocarcinoma (27% vs. 0% vs. 7%, p < .01). In vitro cell experiments showed that downregulation of PBRM1 expression could significantly promote the cancer progression and epithelial-to-mesenchymal transition via the PBRM1-c-JUN-VIM axis. The IHC data indicated that PBRM1 deficiency (p = .047) and c-JUN expression (p < .001) were significantly associated with poor prognosis. Meanwhile, the downregulation of PBRM1 expression in HUTU-80 cells was sensitive to radiation, which may be due to the suppression of c-JUN by irradiation.
CONCLUSIONS
Our findings define a novel molecular subgroup of PBRM1-inactivating mutations in DPC. PBRM1 play an important role in DPC progression and may serve as a potential therapeutic target and prognostic indicator.
Topics: Biomarkers; Carcinoma, Papillary; DNA-Binding Proteins; Duodenal Neoplasms; Humans; Nuclear Proteins; Prognosis; Transcription Factors
PubMed: 36178086
DOI: 10.1002/ctm2.1062 -
BMC Gastroenterology Mar 2022Enteric fever is a systemic disease caused by Salmonella enterica serovar Typhi or Salmonella enterica serovar Paratyphi, characterized by high fever and abdominal pain....
BACKGROUND
Enteric fever is a systemic disease caused by Salmonella enterica serovar Typhi or Salmonella enterica serovar Paratyphi, characterized by high fever and abdominal pain. Most patients with enteric fever improve within a few days after antibiotic treatment. However, some patients do not recover as easily and develop fatal life-threatening complications, including intestinal hemorrhage. Lower gastrointestinal bleeding has been reported in 10% of cases. However, upper gastrointestinal bleeding has rarely been reported in patients with enteric fever. We present a case of gastric ulcer hemorrhage caused by enteric fever.
CASE PRESENTATION
A 32-year-old woman, complaining of fever lasting four days and right upper quadrant pain and melena that started one day before admission, consulted our hospital. Abdominal computed tomography revealed mild hepatomegaly and gastroscopy revealed multiple active gastric ulcers with flat black hemorrhagic spots. The melena of the patient stopped on the third day. On the fifth admission day, she developed hematochezia. At that time, Salmonella enterica serovar Typhi was isolated from the blood culture. The antibiotic regimen was switched to ceftriaxone. Her hematochezia spontaneously resolved the following day. Finally, the patient was discharged on the 12th admission day without clinical symptoms. However, her fever recurred one month after discharge, and she was readmitted and Salmonella enterica serovar Typhi was confirmed again via blood culture. She was treated with ceftriaxone for one month, and was discharged without complications.
CONCLUSION
Our case showed that although rare, active gastric ulcers can develop in patients with enteric fever. Therefore, upper and lower gastrointestinal bleeding should be suspected in patients with enteric fever, especially showing relapsing bacteremia.
Topics: Adult; Female; Gastrointestinal Hemorrhage; Humans; Salmonella paratyphi A; Salmonella typhi; Stomach Ulcer; Typhoid Fever
PubMed: 35272630
DOI: 10.1186/s12876-022-02192-2 -
Clinical and Translational... Nov 2021The genomic characterization of primary nonampullary duodenal adenocarcinoma indicates a genetic resemblance to gastric and colorectal cancers. However, a correlation...
INTRODUCTION
The genomic characterization of primary nonampullary duodenal adenocarcinoma indicates a genetic resemblance to gastric and colorectal cancers. However, a correlation between the clinical and molecular characteristics of these cancers has not been established. This study aimed to elucidate the clinicopathological features of sporadic nonampullary duodenal epithelial tumors, including their molecular characteristics and prognostic factors.
METHODS
One hundred forty-eight patients with sporadic nonampullary duodenal epithelial tumors were examined in this study. Patient sex, age, TNM stage, tumor location, treatment methods, histology, KRAS mutation, BRAF mutation, Fusobacterium nucleatum, mucin phenotype, and programmed death-ligand 1 (PD-L1) status were evaluated. KRAS and BRAF mutations, Fusobacterium nucleatum, mucin phenotype, and PD-L1 status were analyzed by direct sequencing, quantitative polymerase chain reaction, and immunochemical staining.
RESULTS
The median follow-up duration was 119.4 months. There were no deaths from duodenal adenoma (the primary disease). Kaplan-Meier analysis for duodenal adenocarcinoma showed a significant effect of TNM stage (P < 0.01). In univariate analysis of primary deaths from duodenal adenocarcinoma, TNM stage II or higher, undifferentiated, KRAS mutations, gastric phenotype, intestinal phenotype, and PD-L1 status were significant factors. In multivariate analysis, TNM stage II or higher (hazard ratio: 1.63 × 1010, 95% confidence interval: 18.66-6.69 × 1036) and KRAS mutation (hazard ratio: 3.49, confidence interval: 1.52-7.91) were significant factors.
DISCUSSION
Only KRAS mutation was a significant prognostic factor in primary sporadic nonampullary duodenal adenocarcinoma in cases in which TNM stage was considered.
Topics: Adenocarcinoma; Adult; Aged; Aged, 80 and over; B7-H1 Antigen; Duodenal Neoplasms; Female; Fusobacterium nucleatum; Gastric Mucosa; Humans; Male; Middle Aged; Mutation; Neoplasm Staging; Phenotype; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins p21(ras)
PubMed: 34797780
DOI: 10.14309/ctg.0000000000000424 -
Ulusal Travma Ve Acil Cerrahi Dergisi =... Jun 2022Upper gastrointestinal system bleeding (UGIB) that occurs with the effect of coagulopathy due to COVID-19 disease itself and drugs such as LMWH and steroids used in the...
BACKGROUND
Upper gastrointestinal system bleeding (UGIB) that occurs with the effect of coagulopathy due to COVID-19 disease itself and drugs such as LMWH and steroids used in the treatment negatively affects the outcomes. In this study, we aimed to examine the frequency of gastrointestinal system bleeding in COVID-19 patients, risk factors, effect on outcomes, and management.
METHODS
Institutional center (a third-level pandemic center) database was searched for patients hospitalized for COVID-19 between March 11, 2020, and December 17, 2020, retrospectively. Patients with UGIB symptoms/signs were included in the study. Age, gender, body mass index (kg/m2), hospital department where bleeding was diagnosed, previous bleeding history, comorbidities, and medication were steroid, anticoagulant, low weight molecule heparin, and proton-pomp inhibitor, endoscopic findings/treatment, transfusion, and mortality rates were evaluated. Patients were divided into two groups as survivors and non-survivors and parameters were compared.
RESULTS
Forty-five of a total 5484 patients under COVID-19 treatment had upper gastrointestinal bleeding (0.8%). The average age of the patients was 70.1 years and 73% bleeders were male. Nineteen patients (44%) underwent endoscopy. The most common etiologies of bleeding were gastric/duodenal ulcer (n=9), erosive gastritis (n=4), and hemorrhagic gastritis (n=3). Active bleeding re-quiring intervention was detected in only one patient; therapeutic band ligation was applied to only 1 (2%) of all patients. The most common etiologies of bleeding were gastric/duodenal ulcer (n=9), erosive gastritis (n=4), and hemorrhagic gastritis (n=3). In terms of statistical significance, it was observed that the rate of steroid treatment (77% vs. 39%) and the number of days of steroid treatment were higher in non-survivor group.
CONCLUSION
UGIB is less common in COVID-19 patients compared to other hospitalized patients. However, it significantly increases mortality. Mortality risk increases even more in patients using steroids. These risks should be considered in patients under COVID-19 treatment. The majority of the bleeding patients does not require endoscopic treatment and should be managed conser-vatively. It is worth considering reducing unnecessary endoscopies in the pandemic.
Topics: Aged; COVID-19; Duodenal Ulcer; Female; Gastritis; Gastrointestinal Hemorrhage; Heparin, Low-Molecular-Weight; Humans; Male; Peptic Ulcer Perforation; Retrospective Studies; Risk Factors; COVID-19 Drug Treatment
PubMed: 35652869
DOI: 10.14744/tjtes.2021.30513 -
Current Oncology (Toronto, Ont.) Sep 2021Duodenal obstruction is often accompanied with unresectable malignant distal biliary obstruction in patients who have undergone biliary self-expandable metal stent...
Risk Factors of Duodenobiliary Reflux-Related Dysfunction of Covered Biliary Metal Stents after Treatment of Duodenal Stricture in Patients with Malignant Biliary and Duodenal Obstruction.
Duodenal obstruction is often accompanied with unresectable malignant distal biliary obstruction in patients who have undergone biliary self-expandable metal stent (SEMS) placement. Duodenobiliary reflux (DBR) is a major cause of recurrent biliary obstruction (RBO) after covered biliary SEMS placement. We analyzed the risk factors for DBR-related SEMS dysfunction following treatment for malignant duodenal obstruction. Sixty-one patients with covered SEMS who underwent treatment for duodenal obstruction were included. We excluded patients with tumor-related stent dysfunction ( = 6) or metal stent migration ( = 1). Fifty-four patients who underwent covered biliary SEMS placement followed by duodenal metal stenting or surgical gastrojejunostomy were included. Eleven patients had DBR-related biliary SEMS dysfunction after treatment of duodenal obstruction. There was no difference between the duodenal metal stenting group and the surgical gastrojejunostomy group. Duodenal obstruction below the papilla of Vater and a score of ≤2 on the Gastric Outlet Obstruction Scoring System after treatment for duodenal obstruction were associated with DBR-related covered biliary SEMS dysfunction. Thus, creating a reliable route for ensuring good oral intake and avoiding DBR in patients with duodenal obstruction below the papilla of Vater are both important factors in preventing DBR-related covered biliary SEMS dysfunction.
Topics: Cholestasis; Constriction, Pathologic; Duodenal Obstruction; Humans; Risk Factors; Stents
PubMed: 34677237
DOI: 10.3390/curroncol28050319 -
BMC Surgery Nov 2019Duodenal fibrolipoma and duodenum-jejunum intussusception are both rare occasions in clinical practice. The diagnosis of duodenal fibrolipoma mainly depends on endoscopy...
BACKGROUND
Duodenal fibrolipoma and duodenum-jejunum intussusception are both rare occasions in clinical practice. The diagnosis of duodenal fibrolipoma mainly depends on endoscopy examination, supplemented by CT and MRI. As the tumor grows, some severe symptoms need surgical intervention. As the development of endoscopic techniques, the operation plan should be made individually.
CASE PRESENTATION
A 47-year-old female with the complaint of upper abdominal pain and melena was reported. Abdominal examination revealed upper abdomen lightly tender and blood test showed severe anemia. Image and endoscopy examination exhibited "a giant mass" in the descending (D2) part of duodenum, dragged by the tumor into the distal intestinal canal and causing intussusception. Intermittent blood transfusion treatment, enteral and parenteral nutrition were adopted to adjust her general state. Two weeks later, the mass was resected together with the basement intestinal wall via the jejunum incision and then the intussuscepted D2 part was restored. The paraffin pathological diagnosis correlated with the preoperative judgment of fibrolipoma and the patient was discharged healthy on POD 14.
CONCLUSIONS
Duodenal fibrolipoma is a rare disease, infrequently causing intussusception and severe upper GIB. Duodenoscopy and endoscopic ultrasound contribute to making an appropriate diagnosis, and for patients with severe symptoms needed surgical intervention, operation plan should be individualized depending on the size and location of the lesion.
Topics: Duodenal Diseases; Duodenal Neoplasms; Duodenoscopy; Endosonography; Female; Gastrointestinal Hemorrhage; Humans; Intussusception; Jejunal Diseases; Laparoscopy; Lipoma; Middle Aged; Tomography, X-Ray Computed
PubMed: 31718616
DOI: 10.1186/s12893-019-0634-1 -
World Journal of Gastroenterology Jul 2019Congenital duodenal obstruction (CDO) can be complete (CCDO) or incomplete (ICDO). To date there is no outcome analysis available that compares both subtypes. (Comparative Study)
Comparative Study
BACKGROUND
Congenital duodenal obstruction (CDO) can be complete (CCDO) or incomplete (ICDO). To date there is no outcome analysis available that compares both subtypes.
AIM
To quantify and compare the association between CCDO and ICDO with outcome parameters.
METHODS
We retrospectively reviewed all patients who underwent operative repair of CCDO or ICDO in our tertiary care institution between January 2004 and January 2017. The demographics, clinical presentation, preoperative diagnostics and postoperative outcomes of 50 patients were compared between CCDO ( = 27; atresia type 1-3, annular pancreas) and ICDO ( = 23; annular pancreas, web, Ladd´s bands).
RESULTS
In total, 50 patients who underwent CDO repair were enrolled and followed for a median of 5.2 and 3.9 years (CCDO and ICDO, resp.). CCDO was associated with a significantly higher prenatal ultrasonographic detection rate (88% versus 4%; CCDO ICDO, < 0.01), lower gestational age at birth, lower age and weight at operation, higher rate of associated congenital heart disease (CHD), more extensive preoperative radiologic diagnostics, higher morbidity according to Clavien-Dindo classification and comprehensive complication index (all ≤ 0.01). The subgroup analysis of patients without CHD and prematurity showed a longer time from operation to the initiation of enteral feeds in the CCDO group ( < 0.01).
CONCLUSION
CCDO and ICDO differ with regard to prenatal detection rate, gestational age, age and weight at operation, rate of associated CHD, preoperative diagnostics and morbidity. The degree of CDO in mature patients without CHD influences the postoperative initiation of enteral feeding.
Topics: Age Factors; Child; Child, Preschool; Digestive System Surgical Procedures; Duodenal Obstruction; Duodenum; Enteral Nutrition; Female; Gestational Age; Humans; Infant; Infant, Low Birth Weight; Infant, Newborn; Infant, Premature; Laparoscopy; Male; Postoperative Period; Retrospective Studies; Treatment Outcome
PubMed: 31391773
DOI: 10.3748/wjg.v25.i28.3787 -
Scientific Reports Sep 2022Duodenal neuroendocrine neoplasms (dNENs) are rare neoplasms but their incidence is on the rise. They are classified into 5 sub-types but there remains much...
Duodenal neuroendocrine neoplasms (dNENs) are rare neoplasms but their incidence is on the rise. They are classified into 5 sub-types but there remains much heterogeneity in behaviour in particular of non-functioning dNENs. To retrospectively analyse outcomes for all types of dNENs, and highlight prognostic factors associated with worse outcome. 102 (57 m/45f.) patients were identified with mean age at diagnosis 62 (range 32-87) years. The majority were non-functioning tumours 87/102 and median size was 10 mm (range 0.9-130 mm). 83 patients had Stage I or II disease, of which 17 underwent endoscopic resection with R1 rate of 45% and complication rate 12%. 36 patients were kept under endoscopic surveillance. There were 11 deaths of which 4 were disease related. Age and Ki67 > 20% were associated with worse OS in all dNENs. In non-functioning dNENs Ki67 > 3% was a predictor of lymph nodes metastases with OR 18.2 (2.54-13) (p < 0.005) in univariate analyses and liver metastases with OR 6.79 (1.56-29.5) (p < 0.05) in the multivariate analysis. Lesions 11-20 mm in size had OR 11.1 (1.16-106) compared to lesions < 11 mm for the prediction of lymph node metastases in the multivariate analysis (p < 0.05). ROC analysis of size of non-functioning dNENs to predict LN metastases found < 15 mm had an AUROC of 0.9 (0.81-0.99) with a sensitivity of 85% and specificity of 88%. dNENs are increasing in incidence, however low grade and smaller lesions have an indolent course and the role of endoscopic resection and active surveillance needs to be reviewed.
Topics: Adult; Aged; Aged, 80 and over; Duodenal Neoplasms; Humans; Ki-67 Antigen; Lymph Nodes; Lymphatic Metastasis; Middle Aged; Neuroendocrine Tumors; Pancreatic Neoplasms; Prognosis; Retrospective Studies
PubMed: 36130981
DOI: 10.1038/s41598-022-19738-9