1/435. A case report including EM and dna repair investigations in a dermatosis associated with multiple skin cancers: epidermodysplasia verruciformis.This report describes the clinical, histological and electron microscopic observations in a 51-year-old male with epidermodysplasia veruciformis (EV). cells with early signs of malignant transformation were found closely connected with virus infected epidermal regions. skin cancers appeared initially on sun-exposed areas, such as the face and ear lobes. The UV-induced dna repair synthesis was therefore studied, utilizing peripheral leukocytes. The patient had 40% lower UV-induced dna repair synthesis than the mean of nine healthy subjects of the same age. These results suggest that a decrease in UV-induced dna repair synthesis in combination with a possibly oncogenic viral infection may enhance the disposition for somatic mutations and malignant transformation in patients with EV.- - - - - - - - - - ranking = 1keywords = peripheral (Clic here for more details about this article) |
2/435. Multiple basal cell carcinomas associated with hairy cell leukaemia.We report the case of a caucasian woman who, between the ages of 49 and 51 years, developed multiple (> 20) basal cell carcinomas (BCC). There was no family history of BCC. No abnormalities in the human homologue of the drosophila segment polarity gene patched (PTCH), glutathione S-transferases T1 and M1, or cytochrome P450 1A1 were detected by polymerase chain reaction (PCR)-based molecular analysis. There was, however, actinic damage of the skin in sun-exposed areas. The patient was diagnosed as having hairy cell leukaemia (HCL) at the age of 51 years, based upon leucocyte morphology as assessed by light and electron microscopy, tartrate-resistant acid leucocyte phosphatase (TRAP) staining, fluorescence activated cell scanning of peripheral blood leucocytes and bone marrow histology. As the leukaemia slowly progressed over a 3-month period, the patient developed four further BCCs. Given that HCL is characterized by a profound defect in T-cell function, it is conceivable that T-cell immune dysregulation can contribute to the pathogenesis of BCC, possibly enhancing the aetiological effect of ultraviolet irradiation.- - - - - - - - - - ranking = 1keywords = peripheral (Clic here for more details about this article) |
3/435. Malignant melanoma of the choroid in neurofibromatosis.A 60-year-old white woman with generalized neurofibromatosis and multiple melanocytic hamartomas of the iris developed an unusual choroidal mass, with secondary sensory retinal separation in the left eye. Ophthalmoscopically the tumor had a peculiar donut configuration that was caused by a large focus of central necrosis within a spindle B melanoma.- - - - - - - - - - ranking = 3087.2179225035keywords = neurofibromatosis (Clic here for more details about this article) |
4/435. Neurofibromatosis type 2 with multiple primary brain tumors in monozygotic twins.BACKGROUND: Although monozygotic twins with neurofibromatosis complicated by brain tumors rarely have been reported, none of them fulfilled the diagnostic criteria for neurofibromatosis type 2 (NF2). METHOD: We describe here the first pair of monozygotic twins with NF2, and the result of the molecular analysis of their NF2 gene. RESULTS: One of the brothers (Case 1) developed tetraparesis and cerebellar truncal ataxia at age 12. He had no skin lesions. Radiological examinations revealed, at one time or another, bilateral vestibular schwannomas, a foramen magnum meningioma, five supratentorial meningiomas, and multiple spinal cord tumors. He underwent three operations over a 10-year period to remove tumors. The patient is now 23 years old and is in college. Although asymptomatic when examined at age 12, CT scan revealed that his brother (Case 2) also had multiple brain tumors, including meningiomas, schwannomas, and multiple spinal tumors. Tumors were removed in eight operations over a 10-year period. The patient is now deaf and confined to a wheelchair. An identical nonsense mutation caused by a C to T transition (C169) in a CpG dinucleotide of the NF2 gene was identified in both patients. CONCLUSION: These results led us to speculate that dissimilarities with respect to time of appearance, distribution, and extent of symptoms and tumors between the twins were dependent on the influence of other genetic factors.- - - - - - - - - - ranking = 1234.8871690014keywords = neurofibromatosis (Clic here for more details about this article) |
5/435. Heterotopic pancreas, periampullary somatostatinoma and type I neurofibromatosis: a pathogenetic proposal.This case documents the association of ectopic pancreatic tissue with a duodenal somatostatinoma in a patient with type I neurofibromatosis. pancreatic ducts have been noted within the centres of somatostatinomas, but little significance has been attached to this finding. Here we describe a patient in whom a separate proliferation of somatostatin cells occurred in association with the ectopic pancreatic ductular epithelium. This lesion bore a striking resemblance to the ductulo-insular or ductulo-endocrine complexes that are seen in nesidioblastosis in the pancreas. We therefore postulate that the ducts, which are sequestered within somatostatinomas, are of pathogenetic significance. The somatostatin-producing cells arise from these ducts, very much in the fashion of ductulo-endocrine complexes in nesidioblastosis.- - - - - - - - - - ranking = 3087.2179225035keywords = neurofibromatosis (Clic here for more details about this article) |
6/435. Hybrid carcinomas of salivary glands. Report of 4 cases and review of the literature.OBJECTIVE: To report 4 cases of hybrid carcinoma and to review the literature on these rare neoplasms of the salivary gland. methods: hematoxylin-eosin-stained, formalin-fixed, paraffin-embedded tissue sections from 3 parotid tumors and 1 palate tumor were examined. RESULTS: The cases were classified as adenoid cystic and mucoepidermoid carcinoma, adenoid cystic and epithelial-myoepithelial carcinoma, epithelial-myoepithelial and salivary duct carcinoma, and adenoid cystic and salivary duct carcinoma. All patients were men, 28 to 71 years old; 3 patients presented with parotid mass, and 1 patient presented with palatal mass. One patient presented with facial nerve paralysis and pain. The soft palatal tumor was a slowly growing mass with maxillary sinus involvement at the time of the diagnosis. All patients were treated with surgery and radiotherapy. CONCLUSIONS: Correct identification of 2 or more neoplastic entities will help assess the aggressiveness and metastatic potential of the tumor and influence the clinical course and treatment.- - - - - - - - - - ranking = 0.37689987023514keywords = nerve (Clic here for more details about this article) |
7/435. Combined radical retropubic prostatectomy and rectal resection.OBJECTIVES: To present our experience with a small series of men who underwent simultaneous radical retropubic prostatectomy and rectal resection. methods: Three men with newly diagnosed prostate cancer were found to have concurrent rectal tumors requiring resection. All three men underwent non-nerve-sparing radical retropubic prostatectomy and abdominoperineal resection (APR) or low anterior resection (LAR) of the rectum at the same operation. In the 2 patients undergoing APR, the levators were approximated posterior to the urethra, and the bladder was secured to the pubis. The patient undergoing LAR had urinary diversion stents placed and a diverting transverse loop colostomy. RESULTS: All 3 patients had excellent return of urinary continence. One patient required reoperation in the early postoperative period for small bowel adhesiolysis and stoma revision. Another patient had a mild rectal anastomotic stricture and a bladder neck stricture; both were successfully treated with a single dilation. No other significant complications occurred in these patients. CONCLUSIONS: Radical retropubic prostatectomy can safely be performed with partial or complete rectal resection in a single operation. A few minor modifications of the standard radical retropubic prostatectomy in this setting are suggested.- - - - - - - - - - ranking = 0.37689987023514keywords = nerve (Clic here for more details about this article) |
8/435. Radiologic features of intrahepatic bile duct adenoma: a look at the surface of the liver.We report the radiological features of intrahepatic bile duct adenoma (BDA) in three patients. BDA was shown as a small mass located in the peripheral region of the liver with each imaging modality: a hypervascular mass on angiography and a mass appearing as early nodular enhancement found disproportionately evident compared with their small size and distinct delayed or prolonged enhancement on CT. BDA should be included in the diseases to be differentiated from hypervascular hepatic tumors.- - - - - - - - - - ranking = 1keywords = peripheral (Clic here for more details about this article) |
9/435. A case with intrahepatic double cancer: hepatocellular carcinoma and cholangiocarcinoma associated with multiple von Meyenburg complexes.Combined hepatocellular carcinoma (HCC) and cholangiocarcinoma (CC) is sometimes found in resected livers, however, cases with double cancer of HCC and CC are very rare. As well, the rarity of CC arising in von Meyenburg complexes (VMCs) is appreciated. We report the case of a 74-year-old man found to have intrahepatic double cancer composed of well-differentiated HCC and CC which exhibited a histologic progression from VMCs to adenomatous lesions and CC. To our knowledge, this is the first case report published in the literature of a double HCC and CC associated with multiple VMCs. The pathogenesis and previous associated reports of these lesions are discussed.- - - - - - - - - - ranking = 16.692910551154keywords = von (Clic here for more details about this article) |
10/435. Somatic mosaicism in von hippel-lindau disease.von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von hippel-lindau disease. mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.- - - - - - - - - - ranking = 23.370074771616keywords = von (Clic here for more details about this article) |
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