Clinical Case Summary

We present a 58-year-old man with a history of cardiovascular risk factors, tobacco and previous alcohol abuse, chronic liver disease, and chronic calcifying pancreatitis, with multiple episodes of acute on chronic exacerbations.
In one admission, his pancreatic disease was complicated by a gastroduodenal 4cm-length gastroduodenal artery branch pseudoaneurysm, for which he underwent an endovascular embolization with coils.
Four years later, he presented with mild acute cholangitis, being admitted to the Gastroenterology department. Abdominal ultrasound and magnetic resonance cholangiopancreatography revealed dilated intrahepatic biliary ducts and common biliary duct (CBD) - maximum of 10mm -, with an apparent biliary stricture, a 17mm-length lymphadenopathy and millimetric gallstones in the distal CBD.
An endoscopic retrograde cholangiopancreatography (ERCP) was performed, showing an irregular stricture in the distal CBD. A brush cytology was collected, revealing atypia, and a plastic biliary stent was placed.
In the following months, he presented with recurrent acute cholangitis episodes, requiring serial stent replacements.
Considering this undetermined CBD stricture and the recurrent acute cholangitis episodes, an ERCP with per oral cholangioscopy was performed, remarkably showing multiple spiral-surface metallic foreign bodies, compatible with coils (used in pseudoaneurysm embolization), with adherent biliary smudge, in the CBD stricture portion.
This case shows, through a very rich iconography, a rare finding of foreign body on CBD, in a patient with several possible causes for biliary stricture (extrinsic compression due to chronic pancreatitis, biliopancreatic malignancy or ischemia). To our knowledge, there are no similar cases reported so far. This case also underscores the essential role of per oral cholangioscopy in the management of biliary stricture, particularly when conventional interventions are not able to exclude malignancy.

References

Cholangiography image; Per os cholangioscopy images (at least 3)

Clinical Case Summary

A 24-year-old male presented with jaundice and mild vertigo after a 10-day prodrome (asthenia, nausea, headache, fever). Ibuprofen (1200 mg/d) was taken for these symptoms only during the first 5 days. Labs revealed acute hepatocellular injury and elevated cholestasis (AST 215, ALT 862, FA 134, GGT 126 IU/L), marked mixed hyperbilirubinemia (Total 13.5 mg/dL, Direct 7.58 mg/dL) and coagulopathy (INR 1.59). Ultrasound showed hepatosplenomegaly. Viral hepatitis (HAV/HBV/HCV/CMV) and autoimmune/metabolic causes were excluded. Epstein-Barr Virus (EBV) serology showed low-titer positive VCA IgM but negative VCA IgG, EBNA IgG, and serum EBV DNA PCR, indicating recent non-active infection. Given ibuprofen timing and high RUCAM score, drug-induced liver injury (DILI) with a hepatocellular pattern was suspected. Liver biopsy confirmed acute hepatitis with lymphomonocytic infiltrate, necrosis and canalicular cholestasis. Despite improving liver function tests post-ibuprofen cessation, he developed worsening vertigo, severe ataxia, nausea, vomiting, hypophonia, necessitating nasogastric feeding/bed confinement. Cerebrospinal fluid (CSF) showed mild mononuclear pleocytosis (16 cells/mm³); a multiplex PCR pathogen panel (including EBV) was negative. Brain MRI/EEG were normal. Post-infectious EBV acute cerebellar ataxia was diagnosed concurrently with DILI, based on timing post-recent EBV, exclusion of active neurological infection (negative CSF PCR, normal imaging), mild pleocytosis, and supported by later IgG seroconversion. IV methylprednisolone treatment, chosen for clinical severity, led to significant neurological improvement within days and eventual recovery after physiotherapy. This case highlights the significant challenges of diagnosis and management of concomitant DILI and recent EBV infection with neurological sequelae, requiring careful differentiation of liver damage patterns (hepatocellular DILI vs cholestatic EBV) and optimal management of neurological symptoms.

References

Illustrative Material References:
- Liver biopsy histology slides (highlighting lymphomonocytic infiltrate, necrosis, and canalicular cholestasis characteristic of DILI).
- Table/Graph showing serial Liver Function Tests (AST, ALT, Bilirubin) over time, depicting injury peak and recovery trend.
- Table summarizing sequential Epstein-Barr Virus (EBV) serology results (VCA IgM, VCA IgG, EBNA IgG) demonstrating seroconversion.
- Table summarizing Cerebrospinal fluid (CSF) analysis results (cell count, protein, glucose, negative multiplex PCR).
- Representative Brain MRI images (axial/sagittal views) confirming absence of structural lesions or encephalitis signs.

Introduction

Increased interest in ERCP simulator-based education is driven by the need for efficient and safe endoscopy training in a dedicated environment.
This study assessed whether a structured training program including initial training with the Boškoski-Costamagna ERCP Trainer (BCT) offers benefits to conventional training.

Aims & Methods

This was a one-year prospective, multicenter, parallel-arm, randomized controlled trial involving 16 novice ERCP trainees randomly assigned to study (SG) and control (CG) groups. Both underwent hands-on ERCP training. Additionally, SG had simulator-based training during the first three months. Performance was evaluated with TEESAT score in all ERCPs with any degree of trainee involvement until each trainee completed a minimum of 60 ERCPs. The primary outcome was overall trainee competence rate; secondary outcomes included successful biliary cannulation and adverse event (AE) rates. Learning curves were generated cumulatively over the training period. Both outcomes and the analysis of specific ERCP steps predictive of overall competence were assessed using mixed-effect logistic regression models (MELR). The most effective predictive model of overall competence was identified using a stepwise backward procedure. MELR was employed to investigate potential confounding factors.

Results

1,106 ERCPs were included (SG=562,CG=544). SG trainees demonstrated higher success in native biliary cannulation (SG=52%, CG=42%, p<0.001), achieved faster biliary cannulation [SG=3(6)min, CG=5(8)min, p<0.001], and showed a faster evolution on overall performance, native biliary cannulation, and sphincterotomy. Successful biliary cannulation [OR=10.10, 95% CI (5.15-19.83)] and sphincterotomy [OR=7.71, 95% CI (3.77-15.76)] were the most important predictors for overall competence. The multivariate random-effects model demonstrated an almost significant association between simulator-based training [OR=3.24, 95% CI (1.01-10.39), p=0.049] and overall competence, accounting for biliary cannulation, sphincterotomy, and stone removal. No confounding factors were identified.

Conclusion

This study suggests that early simulator training with BCT accelerates the learning curve of trainees in performing key steps of the ERCP procedure and improves overall competence as assessed by dedicated tools during ERCP training.

Clinical Case Summary

Gastrointestinal tuberculosis (GITB) is an uncommon form of extrapulmonary tuberculosis that poses a diagnostic challenge due to its non-specific clinical presentation. Among its varied manifestations, gastrointestinal bleeding as an initial presentation is exceedingly rare. This case report aims to highlight the diagnostic difficulties, treatment modalities, and clinical outcomes in a patient with GITB presenting as gastrointestinal bleeding.
This is a case of a 24/M, no known comorbidities, immunocompetent host, no maintenance medications who came in for sudden onset of hematochezia with progressive drop in hemoglobin levels. Work up revealed a circumferential wall thickening involving the ileocecal region. Bleeding from mass was difficult to control despite medications and colonoscopy attempts hence patient underwent exploratory Laparotomy, right segmental colectomy. Histopathology results revealed caseating chronic granulomatous inflammation and lymph nodes showing caseating granulomas. Patient was then started on anti-Kochs treatment with note of improvement of symptoms post treatment.

References

1. Sharma, V., Mandavdhare, H. S., Lamoria, S., & Dutta, U. (2019). Gastrointestinal tuberculosis: A systematic review and meta-analysis. Scandinavian Journal of Gastroenterology, 54(5), 567-577. doi:10.1080/00365521.2019.1598343
2. Kapoor, A., & Schewitz, I. (2020). Gastrointestinal tuberculosis: Understanding the molecular mechanisms for better diagnosis and treatment. Journal of Digestive Diseases, 21(4), 195-204. doi:10.1111/1751-2980.12866
3. Amarapurkar, D. N., Patel, N. D., & Amarapurkar, A. D. (2018). Gastrointestinal tuberculosis. Indian Journal of Medical Research, 147(5), 401-416. doi:10.4103/ijmr.IJMR_1004_17
4. Sharma, V., Mandavdhare, H. S., & Lamoria, S. (2020). Update on gastrointestinal tuberculosis: Newer techniques and treatment strategies. World Journal of Gastrointestinal Pharmacology and Therapeutics, 11(3), 10-26. doi:10.4292/wjgpt.v11.i3.10

Disclosure

None

Clinical Case Summary

Leiomyomas are benign soft tissue neoplasms that arise from smooth muscle. They are uncommon in the colon. We report two cases of colonic sessile polyps that underwent polypectomy and histology showed leiomyoma.

The first patient previously had a history of polyps with tubular adenoma with low grade dysplasia. A repeat colonoscopy for polyp surveillance was done which found polyps in the ascending colon, and sigmoid. The sigmoid colon polyp was 4mm in size and removed via cold snare polypectomy (Figure 1).
The second patient had underlying non-alcoholic fatty liver disease cirrhosis and iron deficiency anaemia. Colonoscopy showed colonic polyps which were biopsied (Figure 2).

The histology of the first patient’s sigmoid colon polyp showed nodular spindle cell lesion centered in the submucosa/muscularis mucosa. The lesion was composed of spindle cells in fascicles with bland spindled nuclei and eosinophilic cytoplasm. Desmin and SMA stains were done and they were diffusely positive. CD117 stains were negative. DOG1 showed focal nonspecific staining in lesional cells. The overlying lamina propria also showed aggregates of foamy histiocytes and lymphoid aggregates. These were consistent with a leiomyoma.
The second patient’s histology also showed fascicles of spindle cells and immunohistochemistry stain showed positivity for SMA and desmin but negative for CD117 and DOG-1, consistent with leiomyoma.

As the polyps showed smooth margins endoscopically and has similar appearance to hyperplastic polyps, it was likely thought to have a hyperplastic component on top of leiomyoma, hence the patients are to be monitored and followed up for routine surveillance.

References

Miettinen M, Sobin LH, Am J Surg Pathol. 2001;25(11):1433

Introduction

The asymptomatic nature of precancerous lesions, namely low- and high-grade dysplasia (LGD and HGD, respectively), constitutes a major clinical challenge that precludes a timely detection of gastric cancer (GC) in curable stages. The identification of novel and accurate biomarkers holds the promise of a better risk assessment and citizens stratification for an early diagnosis. In this exploratory study, we proposed to characterize the transcriptomic landscape of gastric lesions (GL) towards the definition of a molecular profile for early screening of GC in Western populations.

Aims & Methods

RNA-Sequencing analysis was conducted on RNA extracted from 39 formalin-fixed paraffin-embedded (FFPE) samples: 20 “normal-appearing” mucosa controls and 19 gastric lesions (GL), including LGD, HGD, and adenocarcinoma. Differential expression analysis, functional enrichment analysis, least absolute shrinkage and selection operator (Lasso) regression, and the machine-learning extreme gradient boosting (XGBoost) algorithm were employed to identify potential biomarkers and assess the predictive value of the molecular signature of the top dysregulated genes.

Results

A total of 1171 differentially expressed genes (DEGs) were identified in GL. Remarkably, 867 of these genes (74%) showed exclusive dysregulation in lesions compared to stage I GC samples from The Cancer Genome Atlas (TCGA) stomach adenocarcinoma (STAD) cohort. These unique biomarkers predominantly participate in translation, as well as metabolic and biosynthetic processes. In contrast, DEGs from TCGA-STAD cohort were primarily enriched in immunity-related processes. Notably, the eight best genes model, comprising ADAMTSL1, CLDN2, ENC1, GSR, IQNC, PER1, PRR33, and a novel transcript corresponding to a long non-coding RNA (lncRNA, ENSG00000227218), achieved an area under the curve (AUC) of 0.938 (95% CI: 0.815-1.000), with a sensitivity of 87.5% and specificity of 100% to classify GL samples.

Conclusion

This preliminary study identified over 800 DEGs exclusively in GL compared to stage I GC. Moreover, it unveiled a molecular-based signature that effectively discriminates patients with GL in an intermediate-risk population. This discovery paves the way for enhancing early GC screening strategies, particularly for those who can be treated through minimally invasive, nonsurgical procedures.

Introduction

Colonoscopic surveillance reduces colorectal cancer (CRC) incidence and mortality in Lynch syndrome (LS) carriers. Still, its invasiveness and high costs highlight the need for a non-invasive approach to predict the presence of neoplastic lesions.

Aims & Methods

This study aimed to identify faecal bacterial biomarkers to discern between carriers with colorectal lesions and those with normal colon.
Two independent Spanish cohorts (a training and a validation cohort) were recruited through two multicenter studies (Table 1). Participants provided a faecal sample before surveillance colonoscopy to quantify the abundance of F. prausnitzii (FPRA) and its phylogroups I and II (PHGI and PHGII), P. stomatis (PTST), B. fragilis (BCTF), B. thetaiotaomicron (BCTT), B46 (best BLAST match S. variabile), G. morbillorum (GMLL), B48 (best BLAST match R. faecis), and E. coli (ECO) through qPCR. Eubacteria (EUB) was quantified as the total bacterial load. Participants were classified based on colonoscopy findings as normal colonoscopy (NC), non-advanced adenoma (NAA), and advanced neoplasia (AN, including advanced adenoma and CRC). A bacterial signature for neoplasia prediction was defined and validated in the training and validation cohorts, respectively.

Table 1. Main characteristics of the study participants. NC, normal colonoscopy; NAA, non-advanced adenoma; AA, advanced adenoma; CRC, colorectal cancer.

Results

The bacterial abundances were analysed in the training cohort according to age, sex, body mass index (BMI), germline mutation, and colonoscopy findings. Significant moderate positive correlations were identified between the abundances of BCTF and age (r=0.325, p=0.040), and PHGII and BMI (r=0.399, p=0.010). A significant negative correlation was identified between GMLL abundance and BMI (r=-0.331, p=0.036). Patients harbouring MLH1 mutations exhibited a significantly higher abundance of FPRA compared to PMS2 carriers (p=0.048). Patients with neoplasia (NAA+AN) presented significantly lower abundances of BCTF (p=0.027) and B48 (p=0.038) than patients with NC. Patients with AN presented a significantly lower abundance of PTST compared to patients with NC or NAA (p=0.032).
Although all the bacterial markers achieved a sensitivity of 100% to predict the presence of neoplasia, none of them presented a specificity higher than 25% by itself. To maintain sensitivity and increase specificity a bacterial signature was defined including ECO, BCTF, GMLL, FPRA, PHGI, PHGII, and B46 combined with the inherited mutation. The signature showed 100% sensitivity (SS), 52.50% specificity (SP), 34.48% positive predictive value (PPV), and 100% negative predictive value (NPV). This signature was subsequently validated demonstrating 100% SS, 56.45% SP, 53.44% PPV, and 100% NPV.

Conclusion

A new faecal bacterial signature to predict the presence of colorectal neoplasia in LS carriers has been identified, showcasing its potential usefulness to improve and personalise LS surveillance, optimising endoscopic resources, and providing a less invasive and cost-effective approach.

Disclosure

S. Taboada-López, M. Malagón, S. Ramió-Pujol and M. Serra-Pagès are employees of GoodGut.