Clinical Journal of Gastroenterology最新文献

Pancreatic neuroendocrine tumors (PNETs) are considered rare pancreatic neoplasms, and it is a challenging disease entity due to its indolent behavior and is difficult to manage. Diagnostic challenge is usually found in the imaging-based approach, such as transabdominal ultrasound, abdominal CT scan, and abdominal MRI. Surgery is still the main key player in controlling the disease. The main problems in clinical practice are the early detection of small PNETs lesion and non-functional PNET (NF-PNET) cases. Most cases usually come with large tumor size or metastatic disease. Endoscopic ultrasound (EUS) has been well-known as the most sensitive tool for early detection of pancreatic malignancy. It has now also been developed for managing pancreatic cancer, such as tumor ablation therapy. We presented four variety of PNETs cases (one patient with non-functioning PNETs and three patients with functioning PNETs) who have been successfully treated with EUS-guided radiofrequency ablation (RFA) with good control of tumor growth during follow-up. One patient with a large-size insulinoma could have the tumor controlled gradually after several EUS-RFA sessions. No adverse events or major complications were observed during and after the EUS-RFA procedure. EUS has been shown as a promising tool not only for more accurate diagnosis but also for tumor growth control. However, it would need further comparison studies between EUS and surgical approaches to make a better treatment strategy.

Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B. The patient complained of constipation since he was 2 years old and slowly progressive abdominal distension at school age. At 14 years of age, he presented with remarkable megacolon mimicking Hirschsprung's disease and complicated with small intestinal volvulus. The volvulus was successfully repaired, and the particularly dilated transverse colon was resected following a rectal biopsy. Histopathological evaluation of the resected transverse colon revealed to be compatible with ganglioneuromatosis. After emergency surgery, the patient was diagnosed with multiple endocrine neoplasia type 2B with medullary thyroid carcinoma, and a de novo variant of RET was confirmed. Gastroenterologists should consider it when treating patients with constipation, especially those with megacolon. Therefore, timely diagnosis may lead to appropriate treatment of medullary thyroid carcinoma and improve mortality.

A 66-year-old man was initially suspected of having a microcystic serous cystic neoplasm based on magnetic resonance imaging findings of a multifocal mass measuring 46 mm in the pancreatic head, with a cystic component showing a high signal on T2-weighted images. The tumor marker levels were within normal limits. However, contrast-enhanced computed tomography revealed thick cyst walls with delayed staining, which was atypical for serous cystic neoplasms; therefore, the patient was followed up closely. Twenty-two months later, the delayed contrast area was enlarged, carbohydrate antigen 19-9 levels were elevated, and 18 F-fluorodeoxyglucose-positron emission tomography revealed increased accumulation, indicating a potentially malignant lesion. Pancreatoduodenectomy was performed and histopathological examination confirmed the diagnosis of normal-type pancreatic carcinoma with predominantly poorly differentiated cells. Based on the pathological findings and a literature review, it is highly likely that this case represents pancreatic ductal adenocarcinoma with a cystic structure from the beginning. While distinguishing pancreatic ductal adenocarcinoma from other pancreatic cystic tumors, such as serous cystic neoplasms, is critical owing to differing treatments and prognoses, caution is warranted as they may exhibit similar imaging features, as observed in our patient.

Gastric duplication cyst (GDC) is a rare gastrointestinal malformation that frequently occurs in the greater curvature of the gastric antrum or corpus. Herein, we reported a case of intrapancreatic GDC found as a result of recurring pancreatitis. A 15-year-old man experienced repeated episodes of acute pancreatitis and was found to have a cystic lesion in the pancreatic tail. Contrast-enhanced computed tomography revealed a 20-mm cystic lesion with an enhanced thick wall. Endoscopic ultrasonography revealed an anechoic cyst with a three-layered wall. Magnetic resonance cholangiopancreatography and endoscopic retrograde pancreatography (ERP) revealed a connection between the cyst and the main pancreatic duct (MPD), and the duplication of the MPD. ERP showed the pancreatic duct stenosis downstream of the cyst. Although preoperative diagnosis was difficult, distal pancreatectomy was performed to prevent recurrence of pancreatitis. Pathological examination revealed that the cystic lesion was circumferentially surrounded by the pancreatic parenchyma. The epithelial lining of the cyst was crypt epithelium containing the fundic or pyloric glands and surrounded by a smooth muscle layer. The final diagnosis was intrapancreatic GDC.

Janus kinase (JAK) inhibitors have been developed and are clinically available for management of active UC patients although most studies have been conducted for the outpatients and few studies have demonstrated its efficacy in endoscopic and histological remission of hospitalized patients with UC. The aim of the present study was to investigate the efficacy of upadacitinib, which is a novel selective JAK1 inhibitor, in the treatment of ulcerative colitis. We present the cases of three hospitalized patients with ulcerative colitis who achieved clinical remission after significant and rapid improvement with upadacitinib. While upadacitinib was used as the second-line treatment for patients with insufficient treatment effects for corticosteroids or ustekinumab, a patient received it just after admission because they were steroid dependent and previously used advanced therapy before hospitalization. All patients demonstrated rapid clinical responses within 7 days and the partial Mayo scores were 0 at week 8. All patients achieved confirmed endoscopic and histological remissions. We conclude that upadacitinib is a potential treatment option for hospitalized patients with an inadequate response to other biologics and JAK inhibitors.

Pancreatic acinar cell carcinoma (PACC) is a rare cancer with no specific treatment. The treatment and chemotherapy for PACC are selected according to pancreatic ductal adenocarcinoma (PDAC). Herein, we describe a recurrent PACC case of an older adult patient. The patient was treated with systemic chemotherapy, chemoradiotherapy, and maintenance therapy based on the pathologic germline BRCA2 variant, resulting in long-term survival. The pathogenic BRCA variant is detected more frequently in patients with PACC than in those with PDAC. The BRCA variant significantly impacts treatment selection and prognosis; therefore, early genomic analysis is recommended when treating PACC.

A 52-year-old woman presented to our hospital with chief complaints of upper abdominal bloating and lower leg edema. Computed tomography (CT) revealed liver metastasis from a gallbladder tumor. This tumor was diagnosed as neuroendocrine carcinoma (NEC) on performing a biopsy. Physical examination revealed a moon face. Blood tests revealed hypokalemia and high levels of adrenocorticotropic hormone (ACTH) and cortisol. Dexamethasone suppression test revealed that cortisol secretion was not suppressed, and the patient was diagnosed with gallbladder NEC and ectopic ACTH syndrome (EAS). Metyrapone was administered to suppress cortisol production; however, she developed septic shock due to cellulitis in the lower leg and died on the 16th day of admission. A pathological autopsy was performed, which revealed disseminated intravascular coagulation and acute respiratory distress syndrome as the cause of death. Only a few cases of EAS due to NEC originating from the gallbladder have been reported. The patient reported here succumbed shortly after diagnosis, thereby highlighting the challenges in treating gallbladder NEC complicated by EAS.

A 74-year-old man with obstructive jaundice presented with a thickened distal bile duct wall. A transpapillary forceps biopsy revealed an adenocarcinoma; however, because the tumor image was different from that of a typical cholangiocarcinoma, endoscopic ultrasound-guided fine-needle aspiration was performed on the tumor and enlarged lymph nodes. The tumor cells were positive for synaptophysin and CD56 with a Ki67 labeling index of 95%, and he was diagnosed with small cell neuroendocrine carcinoma. We diagnosed a bile duct tumor with neuroendocrine carcinoma component with lymph node metastasis. Preoperative chemotherapy for neuroendocrine carcinoma was administered because R0 resection was difficult and the risk of postoperative recurrence was high. Three courses of chemotherapy with carboplatin and etoposide resulted in marked tumor shrinkage, and radical resection was performed 3 months after diagnosis. Postoperative pathology revealed adenocarcinoma in the mucosal epithelium and small cell neuroendocrine carcinoma in the submucosa, most of which resolved with chemotherapy. Carboplatin and etoposide were resumed as adjuvant chemotherapy, and 67 months of recurrence-free survival were achieved after surgery.

Von Hippel-Lindau (VHL) disease, an autosomal dominant genetic disorder caused by a germline mutation, is associated with non-functional and slow-growing pancreatic neuroendocrine tumor (PNET) and kidney cancer. We describe the case of a 46 year-old man with a 35 mm mass in the pancreatic head causing stricture of the bile duct and main pancreatic duct, a 55 mm mass in the pancreatic tail causing obstruction of the splenic vein (SV), and multiple masses of > 36 mm on both kidneys. We performed a two-stage resection. First, a total pancreatectomy with superior mesenteric vein (SMV) resection and reconstruction and retroperitoneoscopic right partial nephrectomy (NP) for five lesions was performed, followed by retroperitoneoscopic left partial NP of the five lesions 6 months later. Postoperative histopathological examination revealed NET G2 in the pancreatic head with SMV invasion and somatostatin receptor type 2A (SSTR2A) positivity, NET G2 in the pancreatic tail showed SV invasion and negative SSTR2A, and multiple clear cell renal cell carcinomas (RCC) were also noted. Multiple liver recurrences occurred 22 months after primary surgery. The patient remains alive 41 months after primary surgery. Kidney cancer generally determines VHL prognosis; however, we experienced dual-advanced PNETs with a more defined prognosis than multiple RCC associated with VHL.

A 53-year-old woman with a history of recurrent right lower quadrant pain presented with slightly bloody stools in April 2023. She was initially diagnosed with acute diverticulitis using an abdominal computed tomography (CT) scan and was treated conservatively. On the second day, however, she reported significant hematochezia. A subsequent contrast-enhanced CT scan revealed an extravasation in the ascending colon, which was promptly managed with colonoscopy. Despite initial hemostasis, she experienced recurrent bleeding. Another contrast-enhanced CT scan revealed a pseudoaneurysm with ongoing extravasation in the same area. Angiography confirmed a pseudoaneurysm in a branch of the ileocolic artery, which was successfully treated by embolization. She was discharged after an 18 day hospital stay. This case highlights a pseudoaneurysm caused by diverticulitis.