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)

Von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene mapped to human chromosome 3p25. It is characterized clinically by vascular tumors, including retinal and central nervous system hemangioblastomas (cerebellar, spinal, and brain stem). Hemangioblastomas are benign and do not metastasize. Other features include cysts of the kidneys, liver, and pancreas. Clear cell renal cell carcinoma occurs in up to 70% of patients with VHL and is a frequent cause of death. Pheochromocytomas occur in association with specific alleles of the VHL gene; therefore, a family history of pheochromocytoma in association with VHL is an indication for thorough surveillance for pheochromocytoma in affected family members. Recently, it has been appreciated that patients with VHL may develop endolymphatic sac tumors, which can cause tinnitus or deafness. The diagnosis of VHL may be made in a patient with a family history of VHL based on a single retinal or cerebellar hemangioblastoma, renal cell carcinoma or pheochromocytoma, and, possibly, multiple pancreatic cysts. Renal and epididymal cysts are not sufficient to make the diagnosis of VHL. In the absence of a family history of VHL the presence of two or more retinal or cerebellar hemangioblastomas, or one hemangioblastoma with one visceral tumor, is required for diagnosis. Studies of the natural history of VHL showed a life expectancy less than 50 years before surveillance protocols were developed. Annual assessments (physical and ophthalmologic examinations) should begin in infancy. Imaging of abdominal organs and the brain and spine should be added in teenagers and adults. Renal cysts and tumors should be monitored by computed tomography every 6 months. Mutation analysis has allowed presymptomatic identification of affected family members; those found not to have inherited the gene do not need to be monitored. The VHL gene coding sequence contains three exons, and two isoforms of mRNA exist, reflecting the presence or absence of exon 2. Tumors arise after the loss or inactivation of the wild type allele in a cell. About 20% of patients have large germline mutations detectable by Southern blot analysis, 27% have missense mutations, and 27% have nonsense or frameshift mutations. In about 20% of VHL families no deletion or mutation can be detected. Families may be characterized by the presence (type 2; 7% to 20% of families) or absence (type 1) of pheochromocytomas. Most type 2 families have missense mutations, whereas most type 1 families are affected by deletions or premature termination mutations. Prognostic counseling regarding the lifetime risk of pheochromocytoma can be aided by determination of the underlying mutation in patients without family histories of VHL.
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PMID:Von Hippel-Lindau syndrome. A pleomorphic condition. 1063 Jan 73

Therapeutic options for the treatment of malignant brain tumors have been limited, in part, because of the presence of the blood-brain barrier. For this reason, the Sixth Annual Meeting of the Blood-Brain Barrier Disruption Consortium, the focus of which was the "Importance of Dose Intensity in Neuro-Oncology Clinical Trials," was convened in April 2000, at Government Camp, Mount Hood, Oregon. This meeting, which was supported by the National Cancer Institute, the National Institute of Neurological Disorders and Stroke, and the National Institute of Deafness and Other Communication Disorders, brought together clinicians and basic scientists from across the U.S. to discuss the role of dose intensity and enhanced chemotherapy delivery in the treatment of malignant brain tumors and to design multicenter clinical trials. Optimizing chemotherapy delivery to the CNS is crucial, particularly in view of recent progress identifying certain brain tumors as chemosensitive. The discovery that specific constellations of genetic alterations can predict which tumors are chemoresponsive, and can therefore more accurately predict prognosis, has important implications for delivery of intensive, effective chemotherapy regimens with acceptable toxicities. This report summarizes the discussions, future directions, and key questions regarding dose-intensive treatment of primary CNS lymphoma, CNS relapse of systemic non-Hodgkin's lymphoma, anaplastic oligodendroglioma, high-grade glioma, and metastatic cancer of the brain. The promising role of cytoenhancers and chemoprotectants as part of dose-intensive regimens for chemosensitive brain tumors and development of improved gene therapies for malignant gliomas are discussed.
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PMID:Importance of dose intensity in neuro-oncology clinical trials: summary report of the Sixth Annual Meeting of the Blood-Brain Barrier Disruption Consortium. 1130 17

To the best of our knowledge this is the first description of a choroidal melanoma with documented growth in neurofibromatosis type 2 (NF2). A 20-year-old patient with NF2 presenting deafness due to bilateral acoustic neurinomas and unilateral amaurosis due to a meningioma of the optic nerve developed a pigmented parapapillary choroidal tumor. Despite signs indicating the diagnosis of a melanoma, periodic observation was chosen in order to postpone functional amputation following optic nerve irradiation. The tumor growth was slow during the 5 years that followed, and once progression became rapid, the tumor was treated by accelerated proton beam radiotherapy. One year later, visual acuity diminished due to actinic optic neuropathy and was stabilized at 0.3 for the 2 following years. The tumor presented objective signs of regression, and no sign of metastatic disease was observed. The therapeutic approach in this case provided local control of the tumor while preserving useful visual function.
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PMID:[Choroidal melanoma in neurofibromatosis type 2: description of a case]. 1281 5

The entity which has come to be known as an endolymphatic sac tumor (ELST) has, in the past, been known as adenocarcinoma of endolymphatic sac origin, aggressive papillary tumor of the temporal bone and Heffner's tumor. ELSTs arise in the vicinity of the inner ear and may extend to involve both the posterior fossa as well as the middle ear and the external ear canal, which may complicate the differential diagnosis ELSTs are typically seen in adults, with only rare descriptions in pediatric patients. They may be sporadic tumors or they may arise as part of the symptom complex of von Hippel-Lindau disease. Clinical signs at presentation range from a mass in the external ear canal to sensorineural deafness to cranial nerve palsies. Imaging studies reveal a destructive lesion of the petrous bone which is heterogeneous on MR scanning. Light microscopy reveals two chief patterns: a follicular pattern, reminiscent of thyroid parenchyma; and a papillary/solid pattern. Both patterns are often admixed in the same tumor, and the individual tumor cells are cytologically bland. Immunohistochemically, ELSTs are typically keratin-, vimentin- and epithelial membrane antigen-positive; they are often S-100 protein-positive and neuron-specific enolase-positive as well. ELSTs are difficult to extirpate surgically (owing to their locally aggressive nature); nevertheless, surgical excision remains the mainstay of current therapy. These are slow-growing (albeit locally aggressive) tumors which have only rarely been reported to metastasize; as such, they remain principally a problem of local control.
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PMID:Endolymphatic sac tumor (low-grade papillary adenocarcinoma) of the temporal bone. 1471 Sep 2

We herein report the histopathological findings of the temporal bone taken from a patient with unilateral profound deafness since early childhood. The patient was a 72-year-old male who died of lung cancer and extensive metastases including the tongue. The patient had a history of profound hearing loss in his left ear since childhood. The histopathological finding of the left temporal bone revealed a severe atrophy of the organ of Corti, a detached and rolled-up tectorial membrane, a moderate loss of the stria vascularis, and a severe loss of spiral ganglion cells. In addition, the macula of the saccule was severely degenerated. The marked degeneration in the inner ear indicated a cochleosaccular disorder, which is a typical temporal bone finding in cases of viral labyrinthitis and hereditary hearing impairment. The present patient was suspected to have suffered cochleosaccular degeneration as a result of an inner ear viral infection during childhood because the number of spiral ganglion cells was significantly reduced because of secondary neural degeneration.
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PMID:[Temporal bone histopathology exhibiting cochleosaccular degeneration in a patient with profound deafness]. 1510 45

The first symptom of an acoustic neuroma in about 50% of the patients is hearing loss, which occurs suddenly in about 5-10% of cases. Acute progressive hearing loss is associated with a broad spectrum of differential diagnoses. Cerebellar and hepatic metastases from a bronchial carcinoma were previously diagnosed in the case presented here, and the most probable causes of the progressive hearing loss, e.g. idiopathic sudden deafness, infection and tumor-associated factors, were considered and diagnostically analyzed. The discussion ultimately focused on the clinical and radiological signs of bilateral acoustic neuroma. The patient's history and clinical findings yielded no indication of neurofibromatosis (type 1/2). Nevertheless, the constellation of findings suggests that the bilateral hearing loss was caused by a bilateral acoustic neuroma.
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PMID:[Differential diagnoses of acute bilateral hearing loss in a patient with metastatic bronchial carcinoma]. 1613 78

We report the case of a 59-year-old man with meningeal carcinomatosis (MC) who presented with peripheral facial palsy and progressive sensorineural deafness. The patient had been operated on for gastric cancer 1 year previously, and no metastases had been detected in the retroperitoneum or thorax at follow-up examination 1 year later. However, he developed headache, deafness, and peripheral facial palsy and was referred to us for further evaluation, as magnetic resonance of the head had shown no abnormalities. Ramsay Hunt syndrome was suspected, but no increase in the cerebrospinal fluid cell count was detected. On the other hand, the balance test suggested a central disorder. In addition, the plasma level of carcinoembryonic antigen suddenly increased, suggesting MC. The cerebrospinal fluid was examined several times; in the end malignant cells and an increase in the cell count were detected, and the diagnosis of MC was established.
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PMID:A case of meningeal carcinomatosis presenting with the primary symptoms of facial palsy and sensorineural deafness. 1693 52

We report the case of a 63-year-old male who developed rapidly progressive bilateral deafness. Two months later he became stuporous, and was transferred to our hospital. The patient's MRI demonstrated bilateral hypertrophic VII-VIII cranial nerve roots that were well enhanced. Gradually, the patient's condition worsened, and he died on the 12th day after admission. Autopsy revealed meningeal carcinomatosis with poorly differentiated gastric adenocarcinoma. White firm masses of the bilateral seventh and eighth bilateral cranial nerve roots were found at autopsy, which were found to be metastases of the gastric cancer cells as well. Metastatic tumors can be take into consideration as a differential diagnosis for bilateral-enhanced eighth cranial nerve root masses.
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PMID:[A case of meningeal carcinomatosis presenting with bilateral hearing loss]. 1809 90

Ovarian carcinoma is a common gynecological malignancy. Distant metastases usually involve the liver and lung while neurological complications are rare. We describe the case of a 63-year-old woman diagnosed from an ovarian carcinoma with peritoneal seed, which was treated surgically and with chemotherapy. After 4 years she was admitted to our Department for the development of subacute right deafness, vertigo and imbalance. MRI revealed the presence of leptomeningeal carcinomatosis and an expansive formation in the right pontocerebellar angle, suggesting involvement of the right VIII cranial nerve. Examination of the cerebrospinal fluid disclosed the presence of neoplastic cells. Subsequently the patient rapidly deteriorated and eventually died. Involvement of VIII cranial nerve as the presentation of leptomeningeal carcinomatosis in ovarian carcinoma is rare. In the literature at least two other cases presented with deafness, suggesting that leptomeningeal carcinomatosis should be considered in the differential diagnosis when deafness appears in a cancer patient.
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PMID:Subacute onset of deafness and vertigo in a patient with leptomeningeal metastasis from ovarian cancer. 1914 72

We report a rare case of lung adenocarcinoma exhibiting Garcin syndrome due to skull base metastasis. A diagnosis of lung adenocarcinoma and intraperitoneal lymph node metastases was given to a 50-year-old man after pathological examination of a superclavicular lymph node biopsy. After systemic chemotherapy with cisplatin plus docetaxel, he had left hearing loss and vertigo. Since auditory nerve damage might occur due to cisplatin, the chemotherapy regimen was changed. However, facial paralysis occurred and his auditory nerve disorder progressed to deafness. He was diagnosed with Garcin syndrome due to the skull base and spinal cord metastases by brain and spine MRI, and cytological examination of the spinal fluid. After intrathecal administration of methotrexate and cranial irradiation, the progression of facial paralysis and auditory nerve disorder were halted. It is important to consider Garcin syndrome as a possible complication in lung cancer patients who have central nervous system symptoms.
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PMID:[A case of lung adenocarcinoma exhibiting Garcin syndrome]. 2016 25


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