Leiomyosarcoma of the gallbladder-A case report and a review of literature.

Introduction: Primary sarcomas of the gallbladder (GB) are a rare disease that were first described by Griffon and Segall in 1897. Leiomyosarcomas (LMS), as described in the case report at hand, are considered a major subgroup.

Presentation Of Case: A 62-year-old female was referred to our hospital with intermittent right upper quadrant pain.

Endoscopic resection of a periampullary gangliocytic paraganglioma of the duodenum: A case report.

Introduction: The gangliocytic paraganglioma (GP) is an extremely rare neuroendocrine tumour originating from the second part of the duodenum. Generally GP shows benign clinical behaviour. The GP is typically characterized by consisting of three tumour components: the epithelioid, the spindle-shaped and the ganglion-like cells.

Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors (GIST).

Pathogenetic pathways of gastrointestinal stromal tumors (GIST) lacking mutations in KIT and PDGFRA (∼15%) are still poorly studied. Nearly nothing is known about PI3K alterations in GISTs and only a few GISTs with BRAF mutations have been reported. BRAF mutations (V600E) were found in 3/87 tumors (3.

ApoE-deficient mice on cholate-containing high-fat diet reveal a pathology similar to lung sarcoidosis.

Sarcoidosis is a chronic disease of unknown etiology characterized by the formation of non-necrotizing epithelioid granulomas in various organs, especially in the lungs. The lack of an adequate animal model reflecting the pathogenesis of the human disease is one of the major impediments in studying sarcoidosis. In this report, we describe ApoE-/- mice on a cholate-containing high-fat diet that exhibit granulomatous lung inflammation similar to human sarcoidosis.

Acute appendicitis is characterised by local invasion with Fusobacterium nucleatum/necrophorum.

Background: Acute appendicitis is a local intestinal inflammation with unclear origin. The aim was to test whether bacteria in appendicitis differ in composition to bacteria found in caecal biopsies from healthy and disease controls.

Methods And Patients: We investigated sections of 70 appendices using rRNA-based fluorescence in situ hybridisation.

[Campylobacter-jejuni-associated hepatitis and myocardial injury].

Background: Campylobacter-jejuni infection can lead to different extraintestinal manifestations. Myo-/pericarditis and toxic hepatitis have been reported. A combined appearance has not been described yet.

Chemotherapy with gemcitabine, paclitaxel, and cisplatin in the treatment of patients with advanced transitional cell carcinoma of the urothelium.

Chemotherapeutic agents are active in advanced bladder cancer, and various combinations have shown promising results. The objective of this study was to evaluate the efficacy of combination chemotherapy with gemcitabine, paclitaxel, and cisplatin in patients with advanced urothelial carcinoma. Fifty-nine patients with metastatic or locally advanced transitional cell carcinoma of the urothelium were treated between 2000 and 2005.

Comparative study of the intestinal mucus barrier in normal and inflamed colon.

Aim: To study the role of mucus in the spatial separation of intestinal bacteria from mucosa.

Patients And Methods: Mucus barrier characteristics were evaluated using histological material obtained by biopsy from purged colon, colon prepared with enema and material from untreated appendices fixed with non-aqueous Carnoy solution. Bacteria were evaluated using fluorescence in situ hybridization, with bacterial 16S RNA probes and related to the periodic acid Schiff alcian blue stain.

Malignant fibrous histiocytoma masquerading as germ cell tumor by producing beta-human chorionic gonadotropin and neuron-specific enolase.

Neuron-specific enolase and beta-human chorionic gonadotropin are serum markers frequently found associated with germ cell tumors. To our knowledge, we report the first case of a malignant fibrous histiocytoma producing both markers and discuss the significance of this unusual condition in the differential diagnosis of retroperitoneal tumors.

Identification of six novel MSH2 and MLH1 germline mutations in HNPCC.

Germline mutations in mismatch repair genes are responsible for hereditary nonpolyposis colorectal cancer (HNPCC), the most common hereditary cancer-susceptibility syndrome. We report six novel germline mutations, three in MSH2 and three in MLH1. All but one mutation have been found in families fulfilling the criteria of the Bethesda guidelines; two of them additionally fulfilled the Amsterdam criteria.

Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

Germline mutations in human mismatch repair (MMR) genes yield a predisposition for the hereditary nonpolyposis colon cancer (HNPCC) syndrome. In contrast to hMLH1 and hMSH2, little is known about the overall involvement of hMSH6 in colorectal cancer. We investigated 82 tumors from patients who fulfilled the Bethesda guidelines for HNPCC as well as 146 sporadic tumors, analyzing microsatellite instability and expression of the 4 MMR proteins hMSH6, hMSH2, hMLH1 and hPMS2.

Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer.

Hereditary nonpolyposis colorectal cancer (HNPCC) is the most frequent hereditary form of colorectal cancer and is caused by germline mutations in mismatch repair (MMR) genes. The majority of mutations occur in MLH1 and MSH2. We report hereby seven novel germline mutations in these two genes (five in MLH1 and two in MSH2).