A case of Dubin-Johnson syndrome with a pigmented neurofibroma / 대한내과학회지

Clinically, Dubin-Johnson syndrome is characterized by mild icterus without specific symptoms or signs. The icterus is so mild that it is usually noted only during another illness, pregnancy, or the use of oral contraceptives. There is no pruritus in ubin-Johnson syndrome. The physical examination is usually normal, except for the icterus, although hepatosplenomegaly is seen occasionally. Histologically, the liver is normal, except for the presence of dense pigment making it appear black grossly. Pigmentation of tissues other than the liver in patients with Dubin-Johnson syndrome has been reported only in a few cases. We experienced a case of Dubin-Johnson syndrome with extrahepatic pigmentation in the skin with a neurofibroma in a 66-year-old man.

Rectal Leiomyoma Diagnosed by Endoscopic Ultrasonography and Endoscopic Polypectomy / 대한소화기내시경학회지

Leiomyoma of the rectum is a rare tumor and it usually present in 40 to 60 year-old individuals, and it is more frequent in men. It originates from either the muscularis mucosa or muscularis externa and those arising from the muscularis mucosa are typically small and they are identified incidentally in patients who are undergoing sigmoidoscopy. In contrast, the larger leiomyomas arising from the muscularis externa generally present symptoms that are consistent with rectal stenosis or a rectal mass. Endoscopic ultrasonography can help to define the tumor location, extension and size. Surgical resection is the treatment for most leiomyomas of the rectum, but endoscopic electroexcision is a safe and appropriate treatment for small polypoid rectal leiomyoma. We report here on a case of a semipedunculated rectal leiomyoma in a 59 year-old female patient. It was found incidentally during a colonoscopic examination and it was diagnosed by endoscopic ultrasonography. We performed endoscopic mucosal resection with colonoscopic snare electrocoagulation.

A Case of Primary Melanoma of the Anus that Spread to the Submucosa of the Rectum / 대한소화기내시경학회지

Primary malignant melanoma of the anorectum is rare, representing about 1% of all colorectal carcinoma and less than 1% of all melanomas. The most common symptom of malignant melanoma of the anorectum is anal bleeding and this is often misdiagnosed as hemorrhoids. A 72-year-old female patient was admitted due to intermittent anal bleeding for 6 months. Colonoscopic examination showed a large exophytic mass with an irregularly ulcerated and greenish-brown pigmentation on the anus and the examination also simultaneously showed a submucosal tumor-like lesion in the rectum that was located 5 cm from the anal verge. Light microscopy of the tumor revealed malignant melanocytes and the tumor cells reacted positively for immunohistochemical staining with S-100 protein and HMB-45. Distant metastasis to the brain was detected on brain MRI.

Clinical Observation of Colorectal Polyps / 대한소화기내시경학회지

BACKGROUND/AIMS: The detection and removal of colorectal polyps are important for secondary prevention of colorectal cancer. We investigated the characteristics and histopathologic finding of polyps to better plan their management. METHODS: We analyzed 334 patients who underwent polypectomies for 770 colorectal polyps between October, 2005 and April, 2007 at Bong Seng Memorial Hospital. RESULTS: Colorectal polyps were frequent in the sixth decade in both sexes. The ratio of male to female patients was 1.72:1. Abdominal pain/discomfort was the most common symptom (34.4%), and the most common site of polyp localization was the rectosigmoid colon. Histopathologic examination showed tubular adenomas (54.6%), hyperplastic polyps (36.4%), and inflammatory polyps (5.6%). Adenomatous polyps were more common in patients with multiple polyps than in patients with a single polyp. Adenomatous polyps with villous histology were more common in patients with large polyps than in patients with small polyps. Non-neoplastic polyps were common before the fifth decade. Neoplastic polyps were common past the fifth decade. CONCLUSIONS: In this study, tubular adenomas were frequently found on histopathologic examination, sessile type were frequently found on gross examination, and colorectal polyps were found principally in the rectosigmoid colon. Neoplastic polyps were more frequent in patients beyond the fifth decade. There fore colonoscopy examination is recommended for secondary prevention of colon cancer.

A Case of a Primary Esophageal Bezoar after a Total Gastrectomy / 대한소화기내시경학회지

An esophageal bezoar, although uncommon, is now recognized as a distinct clinical entity. An esophageal bezoar is rare but can form due to regurgitation of a gastric bezoar, motor disorder or anatomical abnormality, or following a gastrectomy. In general, bezoars are most often found in the stomach, and are formed by the accumulation of foreign ingested materials, including vegetable material and hair. In Korea, no case of a primary esophageal bezoar has been reported after a total gastrectomy. We report a case of an endoscopically treated primary esophageal bezoar that occurred after a total gastrectomy, without complications.

A Case of a Gastric Metastasis of a Renal Cell Carcinoma / 대한소화기내시경학회지

A gastric metastasis is an extremely rare event accounting for 0.2 to 0.7% of gastric neoplasms seen at necropsy. Primary origins of a gastric metastasis are pancreatic cancers, colon cancers, lung cancers and malignant melanomas. A renal cell carcinoma is renowned for its metastatic potential to spread to almost any organ of the body. However, a gastric metastasis of a renal cell carcinoma is very rare. It is believed that a renal cell carcinoma metastasizes hematogenously and it spreads through a renal vein to the stomach via the inferior vena cava and hemiazygos vein. A metastasis to the stomach is frequently located in the greater curvature of body. Endoscopic findings of a gastric metastasis often resemble a submucosal tumor with or without ulcer. Presenting symptoms are bleeding, anemia, or pyloric obstruction, but often the patient is asymptomatic. We report a case and review of the literature of a metastatic renal cell carcinoma to the stomach in a 71-year-old man who complained of a palpable abdominal mass.

A Case of a Colonic Giant Lipoma Removed by Endoscopic Resection / 대한소화기내시경학회지

A gastrointestinal lipoma, though rare, is a mesencymal tumor of the large bowel, and the second most common benign colonic tumor detected after an adenomatous polyp. The lesion may be asymoptomatic when small and may be detected incidentally, usually during a colonoscopic examination for another purpose. Lipomas of the large bowel that are not causing symptoms probably need no treatment, as malignant transformation has not been documented. If the mass is large, it can cause pain, anal bleeding due to intussusception, bowel obstruction and diarrhea, and thus resection should be considered. Due to the risk of perforation, endoscopic resection of large colonic lipomas has been discouraged. However, large colonic lipomas can be removed safely by endoscopic resection with the use of an endoscopic ultrasonogram and submucosal injection to elevate the lesion.

A Case of Early Gastric Adenocarcinoma and Intraabdominal Schwannoma in a Patient with Neurofibromatosis Type I / 대한소화기내시경학회지

Neurofibromatosis is an autosomal dominant hereditary disorder with an overall incidence of one in 3,000~4,000, and type 1 (Von Recklinghausen's neurofibromatosis) characterized by the presence of multiple cutaneous neurofibromas, axillary and groin freckling, and cafe- au-lait spot. The neurofibromatosis type 1 gene is a tumor suppressor gene. Patients with the neurofibromatosis type 1 are at increased risk of developing nervous system neoplasm, including plexiform neurofibromas, optic gliomas, ependymomas, meningiomas, astrocytomas, and pheochromocytomas. Neurofibromas may undergo secondary malignant degeneration and sarcomatous changes. Patients with neurofibromatosis type 1 show a high incidence of Wilm's tumor, rhabdomyosarcoma, nonlymphocytic leukemia, and pheochromocytoma but the gastrointestinal involvement appears to be relatively rare and usually consists of neurofibroma, ganglioneuroma, and leiomyoma. We have identified a case of early gastric adenocarcinoma and intraabdominal schwannoma in a 65-year-old man afflicted with neurofibromatosis type 1.

A Case of Anal Gland Cyst Treated by Endoscopic Resection / 대한소화기내시경학회지

The anal canal is the most distal part of the gastrointestinal tract, and it is developed and formed during the embryonic period. Infection is the most common disease process that occurs around the anorectum, yet tumors or cysts are occasionally encountered. The abnormal development of these parts of the gastrointestinal track during the embryonic period can result in congenital lesions that are discovered in young children or adults. A 72-year-old woman presented to us with postprandial lower abdominal discomfort and fecal incontinence. An anorectal mass was felt on the rectal examination. The colonoscopy demonstrated a submucosal tumor that was closely located to the anorectal junction. The tumor was excised with a snare and it was diagnosed as an analgland cyst due to the histologic features. It is necessary to differentiate anal gland cyst from the other diseases that have submucosal characters, such as carcinoid tumor.

A Case of Primary Esophageal Small Cell Carcinoma with Gastric Metastasis / 대한소화기내시경학회지

Gastric metastasis of malignant tumors is relatively rare but has been reported in cases of malignant melanoma, lung cancer, breast cancer and squamous cell carcinoma of the esophagus. Primary small cell carcinoma of the esophagus is very rare and is an extremely aggressive tumor. Regional lymph node involvement, and distant metastasis to other organs including liver, bone, skin, lung, bone marrow, and brain are common at the time of initial diagnosis. To date, there has been no case reported of gastric metastasis from primary esophageal small cell carcinoma. A 72-year-old man presented with dysphagia for 2 months. An esophagogastroduodenoscopy revealed esophageal carcinoma with a submucosal tumor in the upper body of the stomach. Pathologic examination revealed an esophageal small cell carcinoma, and gastric submucosal infiltration of the small cell carcinoma was noted. We report a case of primary esophageal small cell carcinoma with submucosal tumor like gastric metastasis.

Relationships Between the Expressions of CDX1 and CDX2 mRNA and Clinicopathologic Features in Colorectal Cancers

BACKGROUND: CDX1 and CDX2 are members of the caudal-type homeobox gene family and control the proliferation and differentiation of intestinal mucosal cells. Their expressions are commonly reduced in colorectal cancer, but reports about the relationships between their expressions and clinicopathologic features are rare. The aim of this study was to examine the expressions of CDX1 and CDX2 mRNAs in colorectal cancers and to assess the relationships between their expressions and clinicopathologic features. METHODS: CDX1 and CDX2 mRNA expressions were analyzed by real-time polymerase chain reaction in 48 colorectal cancers and in adjacent non-tumorous normal mucosal tissue. RESULTS: CDX1 and CDX2 mRNA expressions were significantly reduced in colorectal cancer tissues versus normal mucosal tissues (p=0.001, p=0.042, respectively). As compared with paired normal mucosal tissues, colorectal tissues showed reduced CDX1 mRNA expression in 64.6% (31/48) and reduced CDX2 mRNA expression in 66.7% (32/48) of cases. A statistically significant positive correlation was found between the expressions of CDX1 mRNA and CDX2 mRNA in colorectal cancer (r=0.543, p< 0.001). However, the expressions of CDX1 and CDX2 mRNAs were not related to age, sex, cancer location, differentiation, lymphatic or vascular invasion, lymph node metastasis, stage or serum carcinoembryonic antigen level. CONCLUSIONS: CDX1 and CDX2 mRNA expressions were found to be significantly reduced in colorectal cancers, but these expressional changes were not found to be related to clinicopathologic features.

Detection of YMDD Motif Mutants by Oligonucleotide Chips in Lamivudine-Untreated Patients with Chronic Hepatitis B Virus Infection

Lamivudine, a nucleoside analogue, has been used widely as an effective antiviral agent for the treatment of patients with chronic hepatitis B virus (HBV) infection. However, the YMDD motif mutation of HBV polymerase resistant to lamivudine occurs very frequently after long term therapy. We developed an oligonucleotide chip for the detection of YMDD motif mutants resistant to lamivudine and investigated the prevalence of the mutants in patients with chronic HBV infection who had not been treated by lamivudine before. Forty patients who had not been treated with lamivudine were included in this study. Serum samples were tested by the oligonucleotide chips designed for detection of wild-type YMDD motif, M552V and M552I. Samples were confirmed by restriction fragment length polymorphism (RFLP) and direct sequencing. M552I mutants were detected by the oligonucleotide chips in 7.5% (3/40) of chronic HBV infected patients (2 chronic hepatitis and 1 cirrhosis). The results were in accordance with those of RFLP. YMDD motif mutants occur as natural genome variabilities in patients with chronic HBV infection who had not been treated with lamivudine before. Oligonucleotide chip technology is a reliable and useful diagnostic tool for the detection of mutants resistant to antiviral therapy in chronic HBV infection.

A Case of Ileocecal Burkitt`s Lymphoma with Intussusception in an Adult / 대한소화기내시경학회지

Burkitt`s lymphoma is a distinct pathologic entity characterized by a diffuse proliferation of small, noncleaved cells of B-lymphocytes origin. It was first reported as "jaw sarcoma" in East African children and described as endemic in tropical Africa. Burkitt`s lymphoma usually occurs in youth and children, but it is very rare in an adult gastrointestinal tract of an adult. We recently experienced an unusual case of Burkitt`s lymphoma in a 69-year-old male with lower abdominal pain and a mass. A colonoscopy and abdominal CT scan detected an ileocecal fungating mass with intussusception, and the histologic examination of the resected and biopsy specimens showed infiltration of medium-sized lymphoblasts with characteristic "starry sky" machrophages. So we report it with a brief review of literatures.

A Case of Gastric Wall Abscess Associated with Gastritis Cystica Profunda / 대한소화기내시경학회지

Gastric wall abscess is a form of phlegmonous gastritis and has been very rarely reported. The pathogenesis of gastric wall abscess is thought to involve a focal injury to the gastric mucosa such as a penetrating trauma from an ingested foreign body or an endoscopic biopsy, where by bacterial infection occurs. Gastritis cystica profunda is a rare disease in which hyperplasia of mature glandular epithelium extends into the tissues beneath the submucosa. It shows multiple small cysts in the mucosa and submucosa of the stomach. To our knowledge, the association of gastric wall abscess with gastritis cystica profunda has never been reported yet. We, recently, experienced a case of gastric wall abcess associated with gastritis cystica profunda. Herein, we report it with a brief review with literatures.

A Case of Gastric Lymphoepithelioma-like Carcinoma Presenting as a Submucosal Tumor / 대한소화기내시경학회지

Lymphoepithelioma-like carcinoma (LELC) occurs in esophagus, stomach, bile duct, salivary gland, lung, uterus, skin, and so on. The incidence of gastric LELC is 1~4 percents of all stomach cancers. Gastric LELC has a lymphoid stroma and shows a good prognosis and high association with Epstein-Barr virus. We experienced a case of patient with gastric LELC. The patient was 49-year-old woman. and the endoscopic finding showed a submucosal tumor with central erosion. The histologic findings of endoscopic biopsies were suggestive of low grade MALT lymphoma. but the histologic findings of the surgical specimen were consistent with gastric LELC. We report a case of gastric LELC presenting as a submucosal tumor, with a brief review of the literature.

Emphysematous Gastritis Developed in a Patient with Klatskin's Tumor / 대한소화기내시경학회지

Emphysematous gastritis is a rare disease characterized by air in the wall of the stomach due to gas-forming microorganisms. This lethal entity was first described by Fraenkel in 1889. Forty-six cases have been reported so far in the literature. The predisposing factors include corrosive ingestion, immunocompromized state, alcohol abuse, cancer, diabetes and so on. Computed tomography is the procedure of choice for early diagnosis. Only prompt diagnosis and treatment can avoid mortality. Initial antibiotic therapy should cover gram-negative organisms and anaerobes. We report a case of emphysematous gastritis in a 41-year-old man with Klatskin's tumor.

Relationship of CDX1 mRNA and CDX2 mRNA expression and clinicopathologic features in colorectal cancers / 대한내과학회지

BACKGROUND: CDX1 and CDX2, members of the caudal-type homeobox gene family, control proliferation and differentiation of intestinal mucosal cells. Their expression is reduced commonly in colorectal cancers, but reports about the relationship between their expression and the clinicopathologic features are rare. The aim of this study was to examine CDX1 mRNA and CDX2 mRNA expression in colorectal cancers and to assess the relationship between their expression and the clinicopathologic features. METHODS: CDX1 mRNA and CDX2 mRNA expression were analyzed by real-time polymerase chain reaction in 48 colorectal cancers and their adjacent non-tumorous normal mucosas. RESULTS: CDX1 mRNA and CDX2 mRNA expression were decreased significantly in colorectal cancers than in normal mucosas (p=0.001, p=0.042, respectively). In comparison with paired normal mucosas, colorectal cancers showed decreased CDX1 mRNA expression in 64.6% (31/48) and decreased CDX2 mRNA expression in 66.7% (32/48). There was a statistically significant correlation between CDX1 mRNA and CDX2 mRNA expression in colorectal cancers (r=0.543, p<0.001). CDX1 mRNA and CDX2 mRNA expression were not related to age, sex, location of cancer, differentiation, lymphatic or vascular invasion, lymph node metastasis, stage and serum carcinoembryonic antigen level in colorectal cancers. CONCLUSION: CDX1 mRNA and CDX2 mRNA expression were decreased significantly in colorectal cancers, but were not related to the clininopathologic features.

Detection of Aberrant p16INK4A Methylation in Sera of Patients with Liver Cirrhosis and Hepatocellular Carcinoma

Hepatocellular carcinomas (HCCs) show genomic alterations, including DNA rearrangements associated with HBV DNA integration, loss of heterozygosity, and chromosomal amplification. The genes most frequently involved are those encoding tumor suppressors. The p16INK4A tumor suppressor gene frequently displays genetic alteration in HCC tissues. The present study was performed to examine the incidence of methylated p16INK4A in the sera of liver cirrhosis (LC) and HCC patients, and to evaluate its role as a tumor marker of HCC. The sera of 23 LC patients and 46 HCC patients were examined in this study. The methylation status of p16INK4A was evaluated by methylation-specific PCR of serum samples. Methylated p16INK4A was detected in 17.4% (4/23) of LC patients and in 47.8% (22/46) of HCC patients. No association was demonstrated between p16INK4A methylation and serum AFP level. As the status of p16INK4A methylation was not associated with serum AFP level, it may have a role as a tumor marker of HCC.

A Pancreaticobiliary Maljunction (New Komi Classification, Type IIIc3) with a Choledochal Cyst, Common Bile Duct Stones and Pancreatic Duct Stones / 대한소화기내시경학회지

A pancreaticobiliary maljunction (PBM) is synonymous with abnormal union of the pancreaticobiliary ducts (AUPBD), anomalous arrangement of the pancreaticobiliary ductal system, etc. PBM is a congenital anomaly defined as a union of the pancreatic and biliary ducts located outside the duodenal wall. Free reflux of pancreatic juice up to the biliary tree and/or bile up to the pancreatic duct occurs. Accordingly, various pathologic conditions occur in the biliary tract and pancreas. Although the common channel is long in most cases, some patients have more complicated junctions of the pancreatic and bile ducts. We report a case of PBM with choledochal cyst and stones of the pancreaticobiliary duct in a 39 year-old woman.

Endoscopic Biliary Drainage Using Soehendra Stent Retriever in Difficult Malignant Biliary Stricture / 대한소화기내시경학회지

BACKGROUND/AIMS: Endoscopic biliary drainage (EBD) has been used effectively as the palliative treatment for malignant biliary obstruction. In high grade strictures, endoscopic stenting can be achieved by dilating devices such as dilating or balloon catheters. Subgroup of malignant biliary obstructions are too stenotic to allow passage of plastic or metal stents. In cases of failure of conventional stenting, we evaluated the efficacy and safety of the 7-Fr Soehendra stent retriever (SSR) used as a dilator. METHODS: From January 1999 to September 2001, 14 patients with malignant pancreaticobiliary stirictures (2 pancreatic, 12 biliary) that could not be traversed with plastic or metal stents, underwent stricture dilation with SSR. An endoscopic sphincterotomy was performed and a guide wire was inserted beyond the stricture. Then the SSR was introduced over the guide wire via duodenoscope. Then the stricture was traversed by torquing the SSR clockwise while pushing it. The SSR was removed and then the plastic or metal stents were inserted above the stricture. RESULTS: Of the 14 patients, 13 patients (93%) underwent successful stenting using SSR. Symptom relief was observed in all patients after endoscopic biliary stenting. One patient (7%) went on to percutaneous biliary drainage because we failed to insert the metal stent into the stenotic left hepatic duct after traversing the stricture with SSR. There were no significant complications such as bile duct or duodenal perforation and bleeding. CONCLUSIONS: The Soehendra stent retriever is useful and safe for dilation with subsequent stent placement of malignant pancreaticobiliary stirictures resistant to conventional stenting. However, this device may be difficult to pass a tortuous or small-diameter hilar stricture.