Epigastric pain in a patient with neurofibromatosis type 1.

Patients with neurofibromatosis type 1 are at increased risk of developing carcinoid tumours of the duodenum, particularly in the ampulla of Vater. Aggressive surgery with pancreatoduodenectomy is recommended for all ampullary carcinoid tumours because of their propensity to metastasise. We report a case of a 43-year-old woman with neurofibromatosis type 1, who presented with recurrent epigastric pain for 15 months. Evaluation using magnetic resonance cholangiopancreatography and side-viewing duodenoscopy revealed a submucosal tumour at the ampulla of Vater causing pancreatobiliary ductal obstruction and dilation. The ampullary tumour was overlooked initially by forward-viewing endoscopy. The patient subsequently underwent pancreatoduodenectomy. Histological examination of the surgically resected specimen confirmed the presence of a carcinoid tumour, with metastasis to peri-pancreatic lymph nodes. She remained asymptomatic 10 months after surgery.

Lymphoepithelioma-like carcinoma of oral cavity: report of three cases and literature review.

Lymphoepithelioma-like carcinoma is a rare tumour in the oral cavity and is characterized histologically by non-keratinizing, undifferentiated squamous cell carcinoma with lymphocytic infiltration. Three consecutive cases of intraoral lymphoepithelioma-like carcinoma are reported. A review of the literature reveals a similar biological behaviour to that of nasopharyngeal lymphoepithelioma: a high incidence of cervical nodal spread and remarkable radiosensitivity. Chemotherapy should be considered when nodal or distant metastases are present. The association of the Epstein-Barr virus with this tumour remains unclear but our experience suggests a positive correlation in Chinese individuals.

Inflammatory pseudotumor-like follicular dendritic cell tumor: a distinctive low-grade malignant intra-abdominal neoplasm with consistent Epstein-Barr virus association.

Follicular dendritic cell (FDC) tumors are uncommon neoplasms that can involve lymph nodes or extranodal sites. They can exhibit a broad spectrum of histologic appearances and behavior, but the intra-abdominal ones usually pursue an aggressive course. The purpose of this study was to characterize a distinctive variant of FDC tumor morphologically mimicking inflammatory pseudotumor through analysis of the clinicopathologic features of 11 cases. The patients included 10 women and one man (age range, 19-61 years; median age, 40 years) who presented with abdominal discomfort or pain. Six patients had systemic symptoms such as marked weight loss, fever, or malaise. All tumors occurred in intra-abdominal sites: liver (n = 7), spleen (n = 3), and peripancreatic region (n = 1). Of the nine patients with follow-up data, six were alive and well, one developed recurrence at 9 years, and two had repeated recurrences over many years. Grossly, the tumors were usually solitary and fleshy, punctuated by areas of hemorrhage and necrosis. Histologically, in a background of abundant lymphocytes and plasma cells were dispersed spindle or ovoid cells with vesicular nuclei and distinct nucleoli. The degree of nuclear atypia was variable, and some nuclei could be grotesque or resemble Reed-Sternberg cells. Focally, spindle cell fascicles could be formed. The atypical cells were immunoreactive for FDC markers such as CD21/CD35, CD23, and CNA.42. In situ hybridization for Epstein-Barr virus (EBV)-encoded RNA was positive in all cases, remarkably highlighting the spindle cells and their atypia. EBV-latent membrane protein-1 was expressed commonly, albeit often focally and weakly. Therefore, inflammatory pseudotumor-like FDC tumor represents a distinctive variant of FDC tumor that differs from conventional FDC tumor in the following aspects: marked female predominance; selective localization in intra-abdominal sites, especially the liver and spleen; frequent presence of systemic symptoms; indolent behavior despite an intra-abdominal location; dispersed distribution of tumor cells and prominent lymphoplasmacytic infiltration; and consistent association with EBV.

One-week ranitidine bismuth citrate versus colloidal bismuth subcitrate-based anti-Helicobacter triple therapy: a prospective randomized controlled trial.

OBJECTIVE: The efficacy of 1 wk bismuth triple therapy is adversely influenced by the presence of metronidazole resistance. In vitro studies suggest that ranitidine bismuth citrate (RBC) plus metronidazole exhibit synergistic activity against metronidazole resistant strains of Helicobacter pylori (H. pylori). Whether this confers a superior clinical efficacy remains unproven. This study compared the efficacy of RBC-based triple therapy with bismuth triple therapy in eradication of H. pylori. METHODS: Patients with H. pylori-related ulcer disease or gastritis were randomized to receive either 400/mg of RBC twice daily plus 400/mg of metronidazole and 500/mg of tetracycline four times daily for 1 wk (RMT) or 120/mg of colloidal bismuth subcitrate, 400/mg of metronidazole, and 500/mg of tetracycline, all given four times daily for 1 wk (BMT). Metronidazole susceptibility was determined by the E-test and pretreatment resistance was defined as minimum inhibitory concentration > or = 32/mg/L. RESULTS: Of 100 consecutive patients randomized, two patients were lost to follow-up in each group. Forty-three of 85 (51%) H. pylori isolates were metronidazole resistant. Per-protocol cure rate for RMT and BMT was 40 of 41 (98%) and 37 of 44 (84%), respectively (p = 0.058). Intent-to-treat cure rate for RMT and BMT was 46 of 50 and 41 of 50, respectively (92% vs 82%, p = 0.23). A significantly higher eradication of metronidazole resistant H. pylori was observed in the RMT group (25 of 25, 100%) than in the BMT group (12 of 16, 75%), (p = 0.018). Side effects observed in the two treatment groups were comparable. CONCLUSIONS: One week of RBC triple therapy with metronidazole and tetracycline is an effective anti-Helicobacter therapy. This regimen is more appropriate in areas of high prevalence of metronidazole resistance.

A frequent activated smoothened mutation in sporadic basal cell carcinomas.

Basal-cell carcinomas (BCCs) are the most common cancer in Caucasians. It has been reported that the patched gene is inactivated in 30-40% sporadic BCCs and 20% sporadic medulloblastomas via loss of heterozygosity and nonsense mutations. Recently, two activating smoothened mutations have been found in the sporadic basal cell carcinomas. One, at base pair 1604 (G-to-T transversion) of exon 9, changes codon 535 from tryptophan to leucine, and the other, at base pair 1685 (G-to-A transition) of exon 10, changes codon 562 from arginine to glutamine (Xie et al., 1998). In our study, 1604G-->T was found in 20 out of 97 (20.6%) sporadic BCCs. The high prevalence indicates that 1604G is the mutation hot spot in our tumor samples. This mutation was detected in all three histological subtypes of BCCs, suggesting that smoothened mutation is an early event during the development of the tumor. Our finding of a high smoothened mutation rate, together with high frequent patched gene mutations reported recently, indicates that activation of the hedgehog signal transduction pathway is the most common and early event in the development of sporadic BCCs. Additionally, to determine whether smoothened, like patched, is also involved in the carcinogenesis of medulloblastomas, we screened medulloblastoma samples for these two mutations by restriction analysis. We have found the 1604G-->T mutation in 1 out of 21 medulloblastomas. This result confirmed smoothened gene involvement in the carcinogenesis of medulloblastoma.

Retroperitoneal ancient schwannoma: review of clinico-radiological features.

A case is reported here of an ancient schwannoma in the retroperitoneum. The findings of abdominal ultrasound and CT in a patient with a retroperitoneal ancient schwannoma are presented, and the clinical and radiological features of this unusual tumour are reviewed. The presence of a large, well-delineated complex cystic mass in the deep soft tissues should raise the possibility of an ancient schwannoma. It is important to recognize these tumours as benign with excellent prognosis so as to avoid unnecessary radical surgery.

Spinal cord compression caused by thoracic vertebral hemangioma involving only the posterior elements of two contiguous vertebrae.

An unusual case of symptomatic thoracic vertebral hemangioma involving two contiguous vertebrae but confined to the posterior elements is presented. The lesion displaced and compressed the cord. The diagnosis was not considered prior to biopsy. There was uncontrolled bleeding at biopsy. Only partial surgical resection was performed, with incomplete relief of motor weakness after initial surgery. The patient refused further surgical resection. Motor power was gradually recovered after a course of postoperative radiotherapy.

Anti-Helicobacter pylori treatment in bleeding ulcers: randomized controlled trial comparing 2-day versus 7-day bismuth quadruple therapy.

BACKGROUND: One-week bismuth triple therapy has been established to be highly effective in curing H. pylori infection, but patient compliance has been the major factor of success in therapy. For patients hospitalized for ulcer bleeding, an effective regimen that can completed before discharge will ensure full compliance. AIM: To compare 2-day versus 1-wk bismuth triple therapy plus omeprazole in curing H. pylori infection and bleeding peptic ulcers. METHODS: 100 patients with non-actively bleeding duodenal (DU) or gastric ulcers (GU) and confirmed H. pylori infection were randomized to receive either bismuth subcitrate 120 mg, tetracycline 500 mg, and metronidazole 400 mg four times daily for 1 wk (OBTM-7) or bismuth subcitrate 240 mg, tetracycline 500 mg, and metronidazole 400 mg four times daily for 2 days (OBTM-2). Both groups of patients also received omeprazole 20 mg twice daily for the first week. In the OBTM-2 group, the anti-Helicobacter therapy was finished during hospitalization. Endoscopy was repeated 5 wk after randomization to monitor ulcer healing and determine H. pylori status. Side effects related to the anti-Helicobacter therapy was graded as follows: A, mild discomfort, which did not affect daily activity; B, moderate discomfort affecting daily activity; and C, severe discomfort and patients discontinued therapy. RESULTS: Forty-six patients in the OBTM-2 group and 50 in the OBTM-7 group returned for follow-up endoscopy. With an intention-to-treat analysis, ulcer healing was achieved in 44 of 46 patients (95.7%) in the OBTM-2 group versus 49 of 50 (98%) in the OBTM-7 group, p = 0.61. H. pylori eradication was successful in 35 of 46 patients (76.1%) in the OBTM-2 and in all 50 patients (100%) in the OBTM-7 group, p = 0.00024. There was no difference in the severity of side effects experienced by the patients in the OBTM-2 group than in the OBTM-7 group (19 vs 32%, p = 0.16). None of the patients had rebled during the period of follow-up. CONCLUSION: Despite similar efficacy in ulcer healing, the 2-day quadruple therapy is less effective than the 1-wk regimen in curing H. pylori infection.

A characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygote.

We report a 15-year-old Fabry heterozygote presenting to us with asymptomatic proteinuria. During the dissection-microscopic examination, the glomeruli exhibited a characteristic swollen, glistening and white appearance. They were swollen and bulged out from the surface of the renal core. The glomerular tufts appeared to be filled with opaque and whitish material giving them a pale white discoloration. This appearance is due to the accumulation of glycosphingolipids in visceral epithelial cells of the kidney. This feature is important for the investigation of female patients with asymptomatic proteinuria, as in two thirds of Fabry heterozygotes the characteristic skin lesions are absent, and thus heterozygous Fabry disease may not be considered. We suggest that this easily demonstrable appearance can be the first evidence for the disease and pathologists should be aware of it in future.

Epithelioid haemangioma (angiolymphoid hyperplasia with eosinophilia) and Kimura's disease in Chinese.

Although Kimura's disease has often been considered to be identical to angiolymphoid hyperplasia with eosinophilia (epithelioid haemangioma), recent studies suggest that they are different clinicopathological entities. In this study, we have made a detailed morphological comparison of 10 cases of epithelioid haemangioma and 40 cases of Kimura's disease occurring in the Chinese population. The epithelioid haemangiomas occurred in the subcutaneous tissue, skin and maxillary antrum, whereas Kimura's disease affected the subcutaneous tissue, major salivary glands and lymph nodes. Distinctive features of epithelioid haemangiomas were exuberant proliferation of vessels lined by cuboidal to hobnail endothelial cells with irregular nuclei and cytoplasmic vacuoles, fibromyxoid matrix, involvement of muscular coat of blood vessels and zonation of inflammatory infiltrate towards the peripheral portion of the lesion. Distinctive features of Kimura's disease were florid lymphoid infiltrate with prominent lymphoid follicles, vascularization of germinal centres, germinal centre necrosis, marked eosinophilia with or without eosinophil abscess formation, proliferation of high endothelial venules, and sclerosis. The histological features suggest that epithelioid haemangioma is a proliferation of atypical endothelial cells, possibly neoplastic, that is associated with a variable inflammatory infiltrate, whereas Kimura's disease is primarily an inflammatory condition in which high endothelial venules are usually found.