Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P56851 (epididymal)
 11,273 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Papillary cystadenoma of the epididymis is an uncommon benign tumor associated with von Hippel-Lindau disease. Since metastatic renal cell carcinoma may be histologically similar to papillary cystadenoma, and both are associated with von Hippel-Lindau disease, differentiation between these two entities may be difficult. We performed lectin histochemistry studies on three papillary cystadenomas and compared the results with the staining observed in epididymal ducts, epididymal efferent ductules, and three renal cell carcinomas. Common positive staining was observed following incubation with soybean agglutinin in epididymal ducts and two of the three papillary cystadenomas, while the three renal cell carcinomas did not stain. When epididymal tumors histologically consistent with papillary cystadenoma fail to react with soybean agglutinin, thorough clinical evaluation for an occult renal cell carcinoma should be performed.
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PMID:Papillary cystadenoma of the epididymis. A report of three cases with lectin histochemistry. 169 53

Von Hippel Lindau disease (VHL) is a hereditary syndrome, associated with tumors and cysts in multiple organ systems, whose expression and age of onset are highly variable. The availability of a genetic test for the early and reliable detection of individuals carrying the defective gene would be beneficial for VHL patients and their relatives, since many of the manifestations of VHL can be successfully treated if detected in their early stages, while the complications of undetected disease can be devastating. We have previously shown that the VHL gene maps to chromosome 3p. To provide genetic markers for the development of a reliable diagnostic test, and to further narrow and eventually clone the VHL defect, we have generated DNA markers for chromosome 3p. With these markers, we have performed a multipoint genetic linkage analysis in 28 VHL pedigrees, comprising 470 individuals, 164 of whom were affected with VHL. Here we report the identification of tightly linked markers, including flanking markers that bracket the VHL gene to a small region on chromosome 3p25-p26. This finding has several major implications. While visceral cysts of the kidney, pancreas, and epididymis are commonly found in VHL and are considered diagnostic criteria for this disorder, they also occur in the general population. The presence of cysts, unaccompanied by other more typical lesions such as retinal and cerebellar hemangioblastoma, may therefore represent a major diagnostic problem, leading to errors in the assessment of disease status. The application of flanking markers for the VHL gene for presymptomatic diagnostic testing confirms that epididymal cysts are indeed not suitable as a diagnostic criterion in this disorder. Pheochromocytomas occur nonuniformly in VHL families and may also be associated with other hereditary tumor syndromes; our genetic studies imply that the phenotype in VHL families with and without pheochromocytomas is caused by defects within the same gene. The absence or presence of this tumor type is therefore due to the pleiotropic expression of a single gene rather than to the existence of several different genes for VHL. The region on chromosome 3p13-p14 known to contain several chromosomal translocation breakpoints in families with "pure familial renal cell carcinoma" is quite proximal to the VHL locus in 3p25-p26 we have identified. Chromosome 3p may therefore contain two loci for renal cell carcinoma: one gene (or genes) in 3p13-p14 and the VHL gene in 3p25-p26, whose aberration is also associated with other typical manifestations of VHL. Since renal cell carcinoma, pheochromocytoma, and visceral cysts can occur sporadically even in young people and may also be associated with other tumor syndromes, the availability of flanking markers for the VHL gene will be useful in identifying VHL gene carriers, particularly among those individuals at risk in whom these are the only manifestations of disease. The isolation and characterization of the VHL gene, based on the identification of flanking markers, will have important implications for diagnosis and treatment of patients with VHL, as well as for a much larger number of individuals having the sporadic counterparts of VHL-associated tumor types.
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PMID:Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease. 201 96

Six monoclonal antibodies directed against ovarian adenocarcinoma were generated by use of 100,000 x g supernatants of Triton-X-100 solubilized extracts of ovarian serous adenocarcinoma as the antigen source. Immunoperoxidase preparation of frozen-sections and routinely processed paraffin section specimens revealed a highly restricted reactivity of these antibodies when tested with adult (n = 2) and fetal (n = 3) tissue types. Coreactivities were occasionally observed with epithelia of the kidney, mammary gland, and pancreas. One monoclonal antibody, Ki-OC I-6-2, cross-reacted only with epididymal epithelia. No coreaction occurred with normal tissue of the ovary, Fallopian tube, or uterus. All antibodies were additionally tested on 74 cases of nonovarian malignancies, 15 cases of ovarian metastases of nonovarian carcinomas, and 114 specimens of ovarian neoplasms other than carcinomas. Ki-OC I-6-2 had no cross-reactivity with these tumors except for one case of renal cell carcinoma. This monoclonal antibody recognized serous, mucinous, and poorly differentiated adenocarcinoma cell types. None of the six antibodies reacted with clear cell or endometrioid carcinoma. All were found to be of the IgG-1 subclass. The tumor antigen to which Ki-OC I-6-2 immunoreacted was estimated to have a molecular weight of 80 kilodaltons (KD).
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PMID:Six new monoclonal antibodies to serous, mucinous, and poorly differentiated ovarian adenocarcinomas. 217 66

The clinical features, age at onset and survival of 152 patients with von Hippel-Lindau disease were studied. Mean age at onset was 26.3 years and 97 per cent of patients had presented by aged 60 years. Retinal angioma was the first manifestation in 65 patients (43 per cent), followed by cerebellar haemangioblastoma (n = 60, 39 per cent) and renal cell carcinoma (n = 15, 10 per cent). Overall, 89 patients (59 per cent) developed a cerebellar haemangioblastoma, 89 (59 per cent) a retinal angioma, 43 (28 per cent) renal cell carcinoma, 20 (13 per cent) spinal haemangioblastoma and 11 (7 per cent) a phaeochromocytoma. Renal, pancreatic and epididymal cysts were frequent findings but their exact incidence was not accurately assessed. Mean age at diagnosis of renal cell carcinoma (44.0 +/- 10.9 years) was significantly older than that for cerebellar haemangioblastoma (29.0 +/- 10.0 years) and retinal angioma (25.4 +/- 12.7 years). The probability of a patient with von Hippel-Lindan disease developing a cerebellar haemangioblastoma, retinal angioma or renal cell carcinoma by age 60 years was 0.84, 0.7 and 0.69, respectively. A comprehensive screening protocol for affected patients and at-risk relatives is presented, based on detailed analysis of age at onset data for each of the major complications. Median actuarial survival was 49 years, with renal cell carcinoma the leading cause of death.
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PMID:Clinical features and natural history of von Hippel-Lindau disease. 227 55

This is an up-to-date report about two patients suffering respectively from testicular and epididymal metastases of a renal adenocarcinoma in the condition following tumour nephrectomy in anamnesis. It is a survey on literature including the number of cases published.
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PMID:Intrascrotal metastases from renal cell carcinoma. 381 22

We report a case of bilateral papillary cystadenoma of the epididymis thought to be a component of the von Hippel-Lindau syndrome. The patient was hospitalized initially because of infertility. He had undergone a craniotomy 2 years previously for the diagnosis of a cerebellar hemangioblastoma. Funduscopy had revealed angiomatous lesions of the left eye. The von Hippel-Lindau syndrome is discussed briefly and the importance of long-term urological followup for possible presentation of silent renal carcinoma is emphasized. Patients with bilateral epididymal papillary cystadenoma are prone to have other components of the von Hippel-Lindau syndrome, and clinical studies are indicated in all such patients.
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PMID:Bilateral papillary cystadenoma of the epididymis as a component of von Hippel-Lindau's syndrome: report of a case presenting as infertility. 396 52

In a series of 24 patients with cerebellar haemangioblastoma two subsequently developed renal carcinoma and one was found to have an epididymal tumour. The association between renal carcinoma and cerebellar haemangioblastoma is discussed. Repeated investigation of the genitourinary tract is advised in all cases of cerebellar haemangioblastoma to detect renal carcinoma before metastases have developed.
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PMID:Cerebellar haemangioblastoma and genitourinary tumours. 485 86

A case of bilateral epididymal metastases appearing sixteen years after nephrectomy for renal cell carcinoma is reported. A literature review of intrascrotal metastases from renal cancer reveals that they are uncommon. The possible mechanisms of spread are discussed.
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PMID:Late intrascrotal metastases from renal cell carcinoma. 675 56

A case of epididymal cystadenoma, thought to be a component of the von Hippel-Lindau syndrome, is presented. The syndrome is reviewed, and the importance of long-term urologic follow-up for possible presentation of renal cell carcinoma is discussed.
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PMID:Papillary cystadenoma of epididymis: component of von Hippel-Lindau syndrome. 742 16

In this report a case of bilateral papillary cystadenoma of the epididymis is described, a tumor associated with the Von Hippel-Lindau's disease (cerebelloretinal hemangioblastomatosis). Reports about the Von Hippel-Lindau's disease do only infrequently mention epididymal adenomas because the latter is mostly not associated with any symptoms. Retinal angiomatosis, cerebellar hemagioblastoma, pheochromocytoma and renal cell carcinoma are the lesions in the Von Hippel-Lindau's disease which cause symptoms and as a consequence disease. Because of some histological similarities between papillary cystadenoma and the clear cell type of renal adenocarcinoma a metastasis of a renal cell carcinoma has to be added to the list of differential diagnosis in case of an epididymal benign tumor apart from adenomatoid tumor, fibroma, lipoma,... The epididymal papillary cystadenoma, which is the only known benign epididymal tumor of epithelial origin, is considered a hereditary hamartoma. The precise histogenetic origin is still controversial.
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PMID:Papillary cystadenoma of the epididymis: a case report. 772 85


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