Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In three brothers of a family with a high incidence of cancer a bilateral renal-cell carcinoma was demonstrated. In the index case there was also a cerebellar haemangioblastoma. At necropsy primary bilateral renal-cell carcinoma was demonstrated while intrarenal metastases were excluded. The cases are considered to be predominantly renal manifestations of the von Hippel-Lindau syndrome with facultative oculocerebellar involvement. Urological and cytogenetic study of other family members provided no evidence of further manifestations of the syndrome. Clinical supervision of members of such families is indicated.
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PMID:[Familial bilateral renal-cell carcinoma and cerebellar haemangioma (author's transl)]. 72 79

Isolated capillary haemangiomata of the optic disc are uncommon; they may be associated with the von Hippel-Lindau syndrome. Renal carcinoma occurs in almost one-third of patients with this condition, and it may go unnoticed until metastases occur. Early nephrectomy offers a cure. It is important, therefore, that all patients with optic disc capillary haemangiomata as well as their relatives are referred for screening for the stigmata of this disease.
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PMID:Haemangioma of the optic disc. 240 17

The von Hippel-Lindau syndrome is the most well known cause of familial renal cancer. Because affected individuals with renal lesions can have complex, multisystem manifestations of von Hippel-Lindau disease, our renal management strategy has included parenchymal sparing surgery whenever possible. From May 1988 to January 1993, 20 patients with hereditary renal cell carcinoma (19 with von Hippel-Lindau disease and 1 with hereditary papillary renal cancer) underwent renal exploration with the intent of performing parenchymal sparing surgery. A total of 7 nephrectomies and 27 parenchymal sparing procedures was performed. Additional procedures performed included 2 bilateral adrenalectomies for pheochromocytomas, 1 resection of a renal vein thrombus and 1 resection of a pancreatic islet cell tumor. Renal atrophy occurred in 3 of 27 kidneys (11%) treated by parenchymal sparing surgery. In 8 kidneys of 7 patients new solid lesions developed and in 14 kidneys of 12 patients no new solid lesions developed during a mean followup of 26 months (range 6 to 60 months). The use of parenchymal sparing surgery in patients with familial forms of kidney cancer is based on a desire to maintain renal function as long as possible while reducing the risk of metastases. The potential advantages and disadvantages of more ablative surgical treatment requiring subsequent dialysis or transplantation in patients with existing or potential central nervous system, eye, pancreas and/or adrenal tumors must be weighed against the possibility of renal cancer metastases or recurrence when deciding on the use of parenchymal sparing surgery.
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PMID:Parenchymal sparing surgery in patients with hereditary renal cell carcinoma. 785 73

Contact Nd:YAG laser resection using the sapphire tip is nowadays a well-known method of partial nephrectomy. Our material consists of six patients (seven resections). The indication for the operation was a renal carcinoma in five patients (six resections) and renal changes of von Hippel-Lindau syndrome in one patient. Occlusion of the renal artery insured a good intraoperative haemostasis. This improved the cutting properties of the laser and made it more accurate. Low energy levels could be used. Thus the destruction of the renal parenchyma will be reduced. The mean follow-up time was 15.3 months. No local recurrences or distant metastases have been detected. In our hands the Nd:YAG contact laser combined with renal hypothermia is superior to traditional methods of partial nephrectomy.
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PMID:Contact Nd:YAG laser and regional renal hypothermia in partial nephrectomy. 829 72

Multiple cysts and benign cystadenomas of the pancreas have been documented occasionally in von Hippel-Lindau syndrome (HLS); however, the malignant involvement of the pancreas in HLS is very rare. We report a case of HLS in which metastatic tumors from renal cell carcinoma (RCC) coexisted with multiple cysts in the pancreas. A 22-year-old woman with a history of HLS had undergone a partial resection of the left kidney for RCC 3 years earlier, at which time a solid mass in the pancreatic tail and multiple pancreatic cysts were also incidentally detected by computed tomography. Over the following 3 years, the mass enlarged slightly, thus raising suspicions that it might be a primary neoplasm of the pancreas. She was referred to the Department of Surgery and Surgical Basic Science to undergo surgery. In addition to the tumor in the pancreatic tail, however, further tumors in the pancreatic head were also disclosed by preoperative celiac arteriography and intraoperative palpation and ultrasonography. A distal pancreatectomy was performed, because the enucleation of all the tumors in the pancreatic head was technically impossible and because the patient declined a total pancreatectomy. A histologic examination of the mass in the pancreatic tail revealed metastatic RCC. This case emphasizes that metastatic disease should be included in the differential diagnosis when evaluating the pancreas in a patient with HLS.
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PMID:Pancreatic lesions in von Hippel-Lindau syndrome: the coexistence of metastatic tumors from renal cell carcinoma and multiple cysts. 1079 74

A variety of pediatric renal masses may be differentiated from Wilms tumor on the basis of their clinical and imaging features. Wilms tumor is distinguished by vascular invasion and displacement of structures and is bilateral in approximately 10% of cases. Nephroblastomatosis occurs most often in neonates and is characterized by multiple bilateral subcapsular masses, often associated with Wilms tumors. Renal cell carcinoma is unusual in children except in association with von Hippel-Lindau syndrome and typically occurs in the 2nd decade. Mesoblastic nephroma is the primary consideration in a neonate with a solid renal mass. Multilocular cystic renal tumor is suggested by a large mass with multiple cysts and little solid tissue. Clear cell sarcoma is distinguished by frequent skeletal metastases, and rhabdoid tumor is distinguished by its association with brain neoplasms. Angiomyolipoma frequently contains fat and is associated with tuberous sclerosis. Renal medullary carcinoma occurs in patients with sickle cell trait or hemoglobin SC disease and manifests as an infiltrative mass with metastases. Ossifying renal tumor of infancy is differentiated from mesoblastic nephroma by the presence of ossified elements. Metanephric adenoma lacks specific features but is always well defined. Renal lymphoma is characterized by multiple homogeneous masses, often with associated adenopathy.
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PMID:Pediatric renal masses: Wilms tumor and beyond. 1111 13

Phaeochromocytomas are rare neuroendocrine tumours with a highly variable clinical presentation but most commonly presenting with episodes of headaches, sweating, palpitations, and hypertension. The serious and potentially lethal cardiovascular complications of these tumours are due to the potent effects of secreted catecholamines. Biochemical testing for phaeochromocytoma is indicated not only in symptomatic patients, but also in patients with adrenal incidentalomas or identified genetic predispositions (eg, multiple endocrine neoplasia type 2, von Hippel-Lindau syndrome, neurofibromatosis type 1, and mutations of the succinate dehydrogenase genes). Imaging techniques such as CT or MRI and functional ligands such as (123)I-MIBG are used to localise biochemically proven tumours. After the use of appropriate preoperative treatment to block the effects of secreted catecholamines, laparoscopic tumour removal is the preferred procedure. If removal of phaeochromocytoma is timely, prognosis is excellent. However, prognosis is poor in patients with metastases, which especially occur in patients with large, extra-adrenal tumours.
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PMID:Phaeochromocytoma. 1611 4

A critical event in the pathogenesis of invasive and metastatic cancer is E-cadherin loss of function. Renal clear cell carcinoma (RCC) is characterized by loss of function of the von Hippel-Lindau tumor suppressor (VHL), which negatively regulates hypoxia-inducible factor-1 (HIF-1). Loss of E-cadherin expression and decreased cell-cell adhesion in VHL-null RCC4 cells were corrected by enforced expression of VHL, a dominant-negative HIF-1alpha mutant, or a short hairpin RNA directed against HIF-1alpha. In human RCC biopsies, expression of E-cadherin and HIF-1alpha was mutually exclusive. The expression of mRNAs encoding TCF3, ZFHX1A, and ZFHX1B, which repress E-cadherin gene transcription, was increased in VHL-null RCC4 cells in a HIF-1-dependent manner. Thus, HIF-1 contributes to the epithelial-mesenchymal transition in VHL-null RCC by indirect repression of E-cadherin.
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PMID:Hypoxia-inducible factor-1-dependent repression of E-cadherin in von Hippel-Lindau tumor suppressor-null renal cell carcinoma mediated by TCF3, ZFHX1A, and ZFHX1B. 1651 May 93

We report on a 19-year-old male diagnosed with multiple pheochromocytomas after an I-123 metaiodobenzylguanidine (MIBG) scan. Multiple imaging was obtained because of concern for von Hippel-Lindau disease (VHL) after bilateral retinal angiomas were discovered on ophthalmologic consultation as a follow-up from the Emergency Department. Computed tomography (CT) and magnetic resonance imaging (MRI) were able to localize the adrenal and extra-adrenal tumors; however, accurate differentiation between pheochromocytomas and other adrenal tumors was not possible. I-123 MIBG is the test of choice for evaluating functionality and location of pheochromocytomas because of its high sensitivity and specificity. I-123 MIBG was performed before surgery to confirm that the lesions were indeed pheochromocytomas and also to rule out metastatic disease. He was started on alpha- and beta-blocker medication for at least 3 weeks, followed by surgery. The postoperative period was uneventful. DNA testing was performed and revealed mutations in the VHL gene previously reported to be associated with von Hippel-Lindau syndrome type II and genetic counseling was recommended. He was presented in urology tumor board conference with recommendations for follow-up CT and laboratory tests after 3 months. Otherwise, the patient is doing well and asymptomatic at this time.
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PMID:Multiple pheochromocytomas in a patient with blurred vision. 1871 6

Metastatic renal cell carcinoma (RCC) is highly resistant to chemotherapy but responds modestly to cytokine therapy. The prognosis for long-term survival is poor. Approximately 10% of patients who present with metastatic disease or relapse after nephrectomy are alive at 5 years. Identification of prognostic or predictive factors for individual patient outcomes is necessary in order to develop tailored treatments that reduce the risk of relapse and enhance the chance of successful management. The relationship between pretreatment clinical features and survival has been evaluated in studies leading to the creation of a Memorial Sloan-Kettering Cancer Center (MSKCC) risk model. Additionally, the cloning of the von Hippel-Lindau tumor suppressor gene, and the elucidation of its role in upregulating growth factors associated with angiogenesis, has provided insight into RCC biology and defined a series of targets for novel therapeutic agents. These targeted agents, including sunitinib, sorafenib, temsirolimus, everolimus, and bevacizumab plus interferon-alpha, have shown benefit in phase III trials in first- and second-line therapy. Analysis of the data from these trials and use of prognostic models have resulted in a new paradigm for the treatment of metastatic RCC. Herein, we review these targeted agents, the MSKCC risk model, and the new paradigm for treatment of metastatic RCC.
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PMID:Current algorithms and prognostic factors in the treatment of metastatic renal cell carcinoma. 1989 Nov 24


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