Clinical Journal of Gastroenterology最新文献

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterised by epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations (AVMs) in various organs. When linked to mutations in the SMAD4 gene, it also involves multiple hamartomatous polyps; this condition is known as juvenile polyposis syndrome-HHT (JP-HHT) overlap syndrome. Typically considered a bleeding disorder, HHT is associated with an increased risk of vascular thrombosis. Early diagnosis and genotyping can significantly reduce morbidity and mortality in patients with JP-HHT overlap by allowing appropriate screening for complications. Treatment mainly aims to manage symptoms and complications. We present the case of a 32-year-old man exhibiting features of extrahepatic portal venous obstruction with portal hypertension and JP-HHT overlap, along with a review of the literature.

Eosinophilic infiltration of the esophageal muscular layer, known as eosinophilic esophageal myositis (EoEM), is an exceptionally rare condition that can mimic primary motility disorders such as achalasia. We present the case of a 72-year-old male with progressive dysphagia and significant weight loss, whose high-resolution manometry revealed findings consistent with achalasia, but with unusually elevated lower esophageal sphincter pressures. Surgical myotomy was performed and histopathological analysis unexpectedly revealed intense eosinophilic infiltration of the muscularis propria. The patient was treated with systemic corticosteroids, followed by topical budesonide, leading to partial and temporary clinical improvement. This case highlights eosinophilic esophageal myositis as a potential, but underrecognized differential diagnosis in patients with atypical achalasia features and treatment-refractory dysphagia.

This report describes a rare case of anorectal malignant melanoma with metastasis to the pancreas, liver, and small bowel. The patient presented with lower gastrointestinal bleeding and an anal mass. Computed tomography (CT) showed a 4.7 × 6.2 cm mass in the lower rectum. The patient underwent surgery and radiotherapy, achieving a two-year recurrence-free period. However, subsequent CT surveillance revealed a 1.6 cm hypo-dense mass at the head of the pancreas and small liver lesions. An endoscopic ultrasound (EUS)-guided fine-needle biopsy of the pancreatic mass was performed, showing a 2.7 × 1.4 cm hypoechoic lesion and pancreatic duct dilation at the pancreatic head region. The pathological diagnosis confirmed metastatic malignant melanoma. She underwent pancreaticoduodenectomy with liver wedge resection. Following surgery, she remained in remission for another two years before developing liver and jejunal metastases, ultimately succumbing to peritoneal carcinomatosis. This case highlights the diagnostic value of EUS in detecting pancreatic metastasis from anorectal melanoma and illustrates the complexities of managing this aggressive disease. The management of pancreatic metastasis from anorectal melanoma requires careful consideration of surgical resection and systemic therapy.

Esophageal squamous cell carcinoma confined to the depth of the T1a-epithelium and lamina propria mucosa rarely exhibits lymph node and distant organ metastases; therefore, the recommended therapy for such cases is endoscopic resection. Furthermore, once esophageal squamous cell carcinoma recurs after curative treatment, including endoscopic mucosal dissection, a unified treatment method cannot be established, because recurrence patterns vary from case to case. Herein, we present an unusual case of metachronous locoregional and subclavian lymph-node recurrence following repeated radical endoscopic submucosal dissection of the superficial esophageal squamous cell carcinoma judged as T1a-LPM with deep subepithelial stromal invasion. The patient was treated using a multidisciplinary approach, leading to a cancer-free status. Although recurrent lymph-node metastasis after curative endoscopic submucosal dissection for pT1a-LPM esophageal squamous cell carcinoma is rare, it is possible. A comprehensive and detailed analysis of the risk factors of recurrence after endoscopic resection for pT1a-LPM cases is required, and appropriate follow-up strategies and stratified adjuvant therapies should be selected for high-risk patients.

Crohn's-disease-associated colorectal cancer, where chronic inflammation increases the risk of cancer development, is less common than other types of colorectal cancer. Pathological analyses of Crohn's-disease-associated colorectal cancer are limited. Herein, we present a case of Crohn's disease-associated colorectal cancer, suggesting stepwise carcinogenesis from the chronic inflammatory mucosa. A man in his 40s had a 28-year history of Crohn's disease with perianal involvement for over 20 years. He visited our hospital due to worsening anal pain and fecal incontinence. Following clinical evaluation, he was diagnosed with anal canal cancer and subsequently underwent surgery. Histopathological examination revealed cancer originating from the chronically inflamed mucosa, suggesting p53-positive dysplasia, well-differentiated adenocarcinoma, and subsequently, mucinous adenocarcinoma. The final diagnosis was Crohn's-disease-associated anal canal cancer. Despite postoperative adjuvant chemotherapy, he exhibited pelvic recurrence and distant metastasis 20 months postoperatively. A comprehensive multidisciplinary treatment intervention was implemented; however, he eventually succumbed to cancer progression 3 years after surgery. This case suggests inflammation-associated stepwise carcinogenesis, demonstrating tumor heterogeneity and providing insights into dysplasia. Despite improved understanding from recent registry studies, the diagnosis and treatment of CD-CRC remain challenging in clinical practice, as seen in this case.

Aim: Predictive biomarkers for the efficacy of tremelimumab, a cytotoxic T lymphocyte antigen 4 (CTLA-4) inhibitor, in hepatocellular carcinoma (HCC) have not yet been identified.

Methods: We report a case of HCC in which switching from bevacizumab plus atezolizumab to tremelimumab plus durvalumab after disease progression resulted in marked tumor regression, accompanied by the development of immune-related adverse event hepatitis. To explore the underlying mechanism, we performed immunohistochemical analysis of CD80, CD86, CD31, and CD3 expression in HCC tissue samples from 15 patients, including the present case.

Results: Immunohistochemistry for PD-L1 showed no detectable expression in the tumor tissue. CD80 (a co-stimulatory molecule that binds to CD28 and CTLA-4) was strongly expressed in hepatoma cells, with higher levels compared to the other cases. In contrast, CD86 (another co-stimulatory molecule) was observed in non-parenchymal cells, with relatively low expressions in this case. Similarly, the expression levels of CD31 (microvessel density marker) and CD3 (T lymphocyte marker) were also low.

Conclusion: Strong expressions of CD80 may have contributed to the therapeutic response by shifting its binding from CTLA-4 to CD28 following CTLA-4 blockade, thereby promoting T cell activation. CD80 expression may serve as a predictive biomarker for the efficacy of CTLA-4 blockade therapy.

A 74-year-old male patient with a resectable pancreatic cancer underwent radical surgery after receiving neoadjuvant chemotherapy. The patient went into shock after surgery owing to sepsis caused by fecal impaction. The sepsis healed rapidly after the patient was encouraged to defecate through stool evacuation. He subsequently presented with gastrointestinal bleeding from an aneurysm, requiring interventional radiology hemostasis and blood transfusion. Bleeding continued after arterial embolization. On the 35th day after surgery, cytomegalovirus enteritis was detected during a lower gastrointestinal endoscopy, for which the patient was treated with ganciclovir. Pancytopenia and constipation resulting from preoperative treatment likely contributed to the intraoperative progression of colitis obliterans. Colonic damage and gastrointestinal hemorrhage may have led to cytomegalovirus enteritis due to immunocompromised status. The combination of preoperative chemotherapy, massive bleeding, and colitis obliterans is important in an immunocompromised state and can occur in the perioperative period of pancreatic cancer. This case demonstrates the importance of perioperative bowel control during highly invasive surgery with preoperative treatment and colonoscopy at the time of hemorrhage.

The patient, a woman in her 40 s, was diagnosed with Crohn's disease (CD) of the small and large intestine, for which she had been treated for 30 years. The disease activity was difficult to control with infliximab. She underwent multiple surgical procedures, including partial resection of the small intestine and colostomy. She was subsequently introduced to several biologic agents, including adalimumab, ustekinumab, and vedolizumab: All failed to maintain long-term endoscopic and clinical remission. She was introduced to upadacitinib (UPA), but her disease worsened because of the so-called ghost pill phenomenon, by which pills are ejected directly into a pouch through the colostomy because of her short bowel after surgery, which prevented therapeutic efficacy. When using an extended-release agent such as UPA in patients with CD, the patient's gastrointestinal condition must be considered. Moreover, appropriate information must be shared with other health care professionals.

Intracholecystic papillary neoplasms (ICPN) are a rare type of gallbladder papillary neoplasms. They demonstrate more complex morphological and immunohistochemical features than intraductal papillary mucinous neoplasms or intraductal papillary neoplasms of the bile duct. Moreover, gallbladder tumors sometimes show an irregular appearance owing to Rokitansky-Aschoff sinus (RAS) involvement. Herein, we report a case of ICPN that mimicked a submucosal tumor. An 81-year-old man presented to the emergency department of our hospital with right hypochondralgia. Abdominal ultrasonography revealed a 15 mm × 11 mm × 9 mm-sized intramural mass at the gallbladder fundus, which was similarly detected on T2-weighted magnetic resonance imaging as a multinodular lesion within the thickened wall. The patient underwent laparoscopic cholecystectomy two months after the first symptom onset. Macroscopically, the cholecystectomy specimen showed a thickened wall at the fundus with smooth mucosa. The cut surface revealed multilobulated cysts containing a whitish friable lesion measuring 11 mm × 9 mm accompanied by mucus and hemorrhage. Microscopically, papillary configurations composed of proliferative glandular epithelia with high-grade dysplasia without invasion presented within a dilated RAS. Immunohistochemistry revealed strong positive staining for MUC5AC and Hep Par-1 and focal positive staining for MUC2, CK7, and CD117. The lesion was diagnosed as an ICPN with high-grade intraepithelial neoplasia and an oncocytic phenotype.

We present the case of a 42-year-old woman with a history of renal transplantation who developed severe enteritis while taking enteric-coated low-dose aspirin. Despite signs of localized peritonitis, conservative management-including aspirin discontinuation, fasting, and antibiotics-was effective, and surgical intervention was avoided. Endoscopic and histologic findings were consistent with drug-induced enteritis, and no infectious etiology was identified. This case highlights the potential for serious gastrointestinal injury from low-dose aspirin in immunocompromised patients and underscores the importance of early recognition and intervention.