Peutz-Jeghers syndrome (PJS) is a very rare genetic disorder. PJS carries a high risk of developing gastrointestinal (GI) cancer or non-GI cancer with advancing years. However, major symptoms of PJS in childhood are obstruction, intussusception, and bleeding from hamartomatous intestinal polyps which in majority of cases are not related to cancer. Generally, first GI symptom develops by 20 years in one half of children diagnosed with PJS. Children under two years of age who had PJS polyp-related intestinal symptoms are rare, and there have been no published report on intestinal carcinoma development, adenomatous change or dysplasia of polyps in Korean children with PJS. Recently, the authors have experienced a case PJS with adenomatous polyp change in a 15-month-old boy who had STK11 gene mutation. Therefore, early evaluation could be necessary and considered in children with PJS.
Adenoma/*diagnosis/pathology ; Base Sequence ; Colonoscopy ; Heterozygote ; Humans ; Infant ; Male ; Peutz-Jeghers Syndrome/*diagnosis/genetics/pathology ; Polymorphism, Single Nucleotide ; Polyps/pathology ; Protein-Serine-Threonine Kinases/chemistry/genetics

No abstract available.
Adenoma, Bile Duct/pathology/*radiography ; Adult ; Aged ; Angiomyolipoma/pathology/*radiography ; Bile Duct Neoplasms/pathology/*radiography ; Bile Ducts, Intrahepatic ; Carcinoma, Hepatocellular/radiography ; Diagnosis, Differential ; Female ; Gadolinium DTPA/*chemistry ; Humans ; Liver Diseases/pathology/*radiography ; Liver Neoplasms/pathology/*radiography ; *Magnetic Resonance Imaging ; Male ; Middle Aged ; Pseudolymphoma/pathology/*radiography ; Tomography, X-Ray Computed

Pancreatic endocrine tumours (PETs) are uncommon tumours with typical morphology characterised by relatively uniform cuboidal cells arranged in nests and festoons, with distinctive nuclear salt-and-pepper chromatin. A lipid-rich variant poses diagnostic difficulties in the midst of other pancreatic tumours and metastatic goblet cell carcinoid. A 22-year-old man presented with symptoms of abdominal pain and jaundice. His liver function test and blood glucose level were normal, but computed tomography of the abdomen suggested the presence of a tumour in the head of the pancreas. Specimen obtained by pancreaticoduodenectomy revealed an infiltrating yellow-tan tumour composed of nests and a cribriform arrangement of polygonal vacuolated cells with pyknotic nuclei, along with focal classical areas of PET. Two foci of early serous microcystic adenoma were seen. Immunohistochemistry contributed to the arrival of a conclusive diagnosis. Von Hippel-Lindau disease was excluded in our patient, as other supportive classical features of the syndrome were absent.
Adenoma ; Blood Glucose ; metabolism ; Carcinoid Tumor ; diagnosis ; pathology ; Humans ; Immunohistochemistry ; Lipids ; chemistry ; Male ; Neoplasm Metastasis ; Neuroendocrine Tumors ; diagnosis ; pathology ; Pancreatic Neoplasms ; diagnosis ; pathology ; Pancreaticoduodenectomy ; Young Adult

BACKGROUND/AIMS: This study was performed to determine the association between RUNX3 expression and Helicobacter pylori infection in premalignant gastric lesions. METHODS: We examined 107 patients with gastric epithelial dysplasia who had undergone endoscopic mucosal resection or submucosal dissection. All tissue samples were evaluated by RUNX3 staining and subclassified by immunophenotype. H. pylori infection in dysplastic lesions and the normal surrounding tissue was examined by silver staining, and cagA status was assessed by polymerase chain reaction. RESULTS: The loss of RUNX3 expression was observed in 62 cases (57.9%), and an association with H. pylori infection was found in 54 cases (50.5%). The infection rate with the cagA-positive H. pylori strain was 63.0%. In RUNX3-negative lesions, the rate of H. pylori infection (p=0.03) and the frequency of category 4 lesions (according to the revised Vienna classification) were high (p=0.02). In addition, the gastric mucin phenotype was predominant. In RUNX3-negative category 4 lesions, the rate of cagA-positive H. pylori infection rate was high but not significantly increased (p=0.08). CONCLUSIONS: Infection with H. pylori is associated with inactivation of RUNX3 in early gastric carcinogenesis. This mechanism was prominent in gastric cancer with a gastric mucin phenotype.
Adenoma/*chemistry ; Aged ; Antigens, Bacterial/genetics ; Bacterial Proteins/genetics ; Carcinoma/*chemistry ; Cell Transformation, Neoplastic ; Core Binding Factor Alpha 3 Subunit/*analysis ; Female ; Gastric Mucosa/*chemistry/pathology ; Helicobacter Infections/*metabolism ; Helicobacter pylori/*genetics ; Humans ; Male ; Middle Aged ; Mucin 5AC/analysis ; Mucin-2/analysis ; Mucin-6/analysis ; Neprilysin/analysis ; Phenotype ; Precancerous Conditions/*chemistry/pathology ; Stomach Neoplasms/*chemistry

We report a case of carcinoma ex pleomorphic adenoma of a sublingual gland in a 70-year-old man. Under a clinical diagnosis of benign salivary gland tumor, excision of the mass with the sublingual salivary gland in an en bloc fashion via an intraoral approach was performed. Histopathologically, there was a rupture of the fibrous capsule and diffuse cell-rich sheets composed of myoepithelial cells with round nuclei were also seen. Immunohistochemically, the cells that composed of cell rich sheets were positive to smooth muscle actin. Final diagnosis of myoepithelial carcinoma ex pleomorphic adenoma was made.
Adenoma, Pleomorphic ; pathology ; Aged ; Carcinoma ; chemistry ; pathology ; Diagnosis, Differential ; Glial Fibrillary Acidic Protein ; analysis ; Humans ; Keratins ; analysis ; Male ; Myoepithelioma ; chemistry ; pathology ; Neoplasm Invasiveness ; S100 Proteins ; analysis ; Sublingual Gland Neoplasms ; chemistry ; pathology

Although germline mutations of met proto-oncogene on human chromosome 7q31-34 have been known as useful molecular markers of hereditary papillary renal cell carcinoma (RCC), the expression of MET, a product of met proto-oncogene, has not been fully studied in sporadic RCC, along with its clinical significance. We investigated the expression of MET by immunohistochemistry in 182 cases of renal neoplasm encompassing 145 RCC, 25 urothelial carcinomas of renal pelvis, and 12 oncocytomas. MET was diffusely and strongly expressed in 90% of papillary RCC, all collecting duct carcinomas, and 92% of urothelial carcinomas of renal pelvis. On the contrary, clear cell RCC, chromophobe RCC, and oncocytomas were negative or focally positive for MET expression. In clear cell RCC, MET expression was positively correlated with high nuclear grade, presence of infiltrative growth, tumoral necrosis, papillary architecture, sarcomatoid component, tumoral involvement of the renal pelvis or ureter, involvement of the calyx, and lymphatic invasion. In conclusion, diffuse and strong expression of MET in papillary RCC and collecting duct carcinoma might be helpful in discriminating from the other subtypes of RCC with tubular or papillary growth. In case of MET expression observed in clear cell RCC, it might correlate with those clinicopathological parameters implying aggressive behavior.
Urothelium/chemistry/pathology ; Receptors, Growth Factor/*biosynthesis ; Proto-Oncogene Proteins/*biosynthesis ; Neoplasm Staging ; Kidney Pelvis/chemistry/pathology ; Kidney Neoplasms/metabolism/*pathology ; Immunohistochemistry ; Humans ; Carcinoma, Renal Cell/metabolism/*pathology ; Adenoma, Oxyphilic/metabolism/pathology

BACKGROUND/AIMS: De novo colorectal carcinoma shows more aggressive behavior including submucosal invasiveness. Both p53 and cyclo-oxygenase-2 (COX-2) have been shown to be involved in colon carcinogenesis, progression from adenoma to carcinoma, and submucosal invasion by tumor. We performed this study to evaluate the expression of p53 and COX-2 protein in de novo carcinoma, compared with ex-adenoma carcinoma. METHODS: Twenty three flat adenomas, 19 ex-adenoma carcinomas, 6 de novo carcinomas were included in this study. The expression of p53, COX-2 and Ki-67 were examined immunohistochemically. RESULTS: Both ex- adenoma carcinomas and de novo carcinomas showed similar size and shape. Positive staining for p53 was detected in 3 of 23 (13%) flat adenomas, in 11 of 19 (57.8%) ex-adenoma carcinomas (p<0.05), and in 1 of 6 (16.6%) de novo carcinomas. Increased numbers of COX-2 positive tumor cells were observed in 1 of 23 (4.3%) flat adenomas, in 2 of 19 (10.5%) ex-adenoma carcinomas, and in 3 of 6 (50%) de novo carcinomas. COX-2 positive expression showed increased tendency in de novo carcinoma (p=0.073). There was no correlation between COX-2, p53, and Ki-67 expression. CONCLUSION: De novo carcinoma shows increased tendency of COX-2 expression, but decreased p53 expression when compared to ex-adenoma carcinoma. These immunohistochemical findings are in accordance with the fact that de novo carcinoma has no preceding adenoma, with more frequent submucosal invasion despite the small lesion size.
Adenoma/chemistry/pathology ; Carcinoma/chemistry/pathology ; Colorectal Neoplasms/chemistry/*pathology ; Cyclooxygenase 2/*analysis ; Female ; Humans ; Immunohistochemistry ; Ki-67 Antigen/analysis ; Male ; Middle Aged ; Tumor Markers, Biological/analysis ; Tumor Suppressor Protein p53/*analysis

We report a rare case of giant vascular eccrine spiradenoma (GVES) which developed in 56-yr-old Korean woman. It is a rare variant of eccrine spiradenoma (ES), which might be mistaken for angiomatous lesions in view of its florid vascularity and hemorrhagic features. Histogenesis of GVES is not clearly elucidated although it is known that ES presumably originates in the eccrine glands. To clarify the histogenesis of GVES, immunohistochemical stainings using various monoclonal antibodies were also performed. The tumor was composed of three types of cells, namely pale epithelial cells, small basal cells, and myoepithelial cells. Therefore, we conclude that GVES originated from eccrine gland and mainly differentiates toward secretory portion of secretory coil.
Actins/analysis ; Adenoma, Sweat Gland/blood supply/metabolism/*pathology ; Biological Markers/analysis ; CA-15-3 Antigen/analysis ; Eccrine Glands/blood supply/chemistry/*pathology ; Female ; Humans ; Immunohistochemistry ; Keratin/analysis ; Korea ; Membrane Proteins/analysis ; Middle Aged ; Muscle, Smooth/chemistry ; Sweat Gland Neoplasms/blood supply/metabolism/*pathology

Adenoma, Liver Cell ; metabolism ; pathology ; Adolescent ; Adult ; Child ; Diagnosis, Differential ; Female ; Focal Nodular Hyperplasia ; metabolism ; pathology ; Humans ; Immunohistochemistry ; Liver ; chemistry ; pathology ; Liver Neoplasms ; metabolism ; pathology ; Male ; Middle Aged ; Peptidyl-Dipeptidase A ; biosynthesis ; Young Adult

OBJECTIVETo investigate the expression of beta-catenin and its significance in colorectal neoplasms.

METHODSTissue specimens of normal colorectal mucosa, mucosa adjacent to carcinoma, colorectal adenoma and adenocarcinoma were examined for beta-catenin with immunohistochemistry.

RESULTSBeta-catenin was mainly expressed in the cytomembrane of normal mucosa and mucosa adjacent to cancer (the positive rates were 94.6% and 86.5%, respectively) and also in the cytoplasm (the positive rates were 38.7% and 55.0%, respectively), while its expression was negative in the cell nucleus. In adenoma and adenocarcinoma, beta-catenin was mainly expressed in the cytoplasm (the positive rates were 85.1%,and 93.7%, respectively) and partially in the cell nucleus (the positive rates were 12.8% and 23.4%, respectively). Compared with normal mucosa and mucosa adjacent to cancer, the expression of beta- catenin in the cytomembrane of adenoma and adenocarcinoma was significantly lower (P<0.05), while its expression in the cytoplasm and cell nucleus of adenoma and adenocarcinoma was significantly higher (P<0.05). The positive rates of cytoplasm in highly-and moderately differentiated adenocarcinoma were significantly higher than that in poorly-differentiated adenocarcinoma (the positive rates were 100%, 95.5% and 68.8%, respectively). Beta-catenin expression rate in cytoplasm was correlated with Dukes'stages of adenocarcinoma, which was significantly lower in stage A than in stage B/C.

CONCLUSIONThe expression of beta-catenin is significantly correlated with differentiation and Dukes'stages of colorectal carcinoma and it can be used as an indicator for the prognosis of colorectal carcinoma.

Adenocarcinoma ; chemistry ; pathology ; Adenoma ; chemistry ; pathology ; Colorectal Neoplasms ; chemistry ; pathology ; Cytoplasm ; chemistry ; Cytoskeletal Proteins ; analysis ; Humans ; Immunohistochemistry ; Prognosis ; Trans-Activators ; analysis ; beta Catenin