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)

To date, magnetic resonance angiography (MRA) has been used in neuroradiology mainly to study vascular malformations and atherosclerotic changes of the carotid bifurcation. Our study was aimed at investigating the role of MRA with the time-of-flight technique in the study of intracranial neoplasms; a superconductive 1.5 T magnet was used, and FLASH and FISP 2D and 3D pulse sequences were acquired before and after Gd-DTPA administration. Fifty-five MRA examinations were performed. Our series consists in 32 meningiomas, 14 glial tumors, 3 hypophysis adenomas, 2 metastases, 1 NF2, 2 craniopharyngiomas, 1 lymphoma and 1 rhinopharyngeal carcinoma with intracranial involvement. In 27 patients MRA results were compared with DSA findings. The results showed high agreement relative to indirect angiographic patterns (dislocations, encasement, dural sinuses involvement) and poor accuracy in the demonstration of tumor vascularization (inflow and outflow, vascular neoformation).
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PMID:[Magnetic resonance angiography in the study of neoplastic cerebral pathology]. 848 47

A 56-year-old male with a history of lung cancer presented with isolated metastases of adenocarcinoma in the bilateral internal auditory meatuses (IAMs), mimicking the bilateral acoustic schwannomas of neurofibromatosis type 2, and manifesting as rapidly worsening tinnitus and bilateral hearing loss. Magnetic resonance imaging showed small tumors in both IAMs with no sign of leptomeningeal metastasis. The preoperative diagnosis was neurofibromatosis type 2. Both tumors were removed and the histological diagnoses were adenocarcinoma. Neuroimaging differentiation of a solitary metastatic IAM tumor from a benign tumor is difficult, although rapidly progressive eighth cranial nerve dysfunction suggests a malignant process. Metastases should be considered as a rare diagnostic possibility in a patient with small tumors in both IAMs.
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PMID:Isolated metastases of adenocarcinoma in the bilateral internal auditory meatuses mimicking neurofibromatosis type 2--case report. 1059 43

The NF2 tumor suppressor gene, located in chromosome 22q12, is involved in the development of multiple tumors of the nervous system, either associated with neurofibromatosis 2 or sporadic ones, mainly schwannomas and meningiomas. In order to evaluate the role of the NF2 gene in sporadic central nervous system (CNS) tumors, we analyzed NF2 mutations in 26 specimens: 14 meningiomas, 4 schwannomas, 4 metastases, and 4 other histopathological types of neoplasms. Denaturing high performance liquid chromatography (denaturing HPLC) and comparative genomic hybridization on a DNA microarray (microarray- CGH) were used as scanning methods for small mutations and gross rearrangements respectively. Small mutations were identified in six out of seventeen meningiomas and schwannomas, one mutation was novel. Large deletions were detected in six meningiomas. All mutations were predicted to result in truncated protein or in the absence of a large protein domain. No NF2 mutations were found in other histopathological types of CNS tumors. These results provide additional evidence that mutations in the NF2 gene play an important role in the development of sporadic meningiomas and schwannomas. Denaturing HPLC analysis of small mutations and microarray-CGH of large deletions are complementary, fast, and efficient methods for the detection of mutations in tumor tissues.
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PMID:NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH. 1266 75

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

Medullary thyroid carcinoma can have an aggressive behavior, and little is known about the molecular basis for clinical outcome. Defining risk of recurrent or metastatic disease is difficult, and it has been limited to clinical and pathologic features, such as advanced age, cervical lymph node metastases, and stage at presentation. Using microdissection and genotyping, we studied 11 cases of medullary carcinoma for allelic losses in a panel of known tumor suppressor genes. The tumor suppressor genes with the most frequent allelic losses were NF2, l-myc, and p53 (75%, 44%, and 44%, respectively). The average frequency of allelic loss across all tumors was 44% and was higher in tumors that recurred. A combination of previously described high-risk variables (increased patient age and cervical lymph node metastases) with the frequency of allelic loss yielded a high-risk group, in which 6 of 6 patients recurred, and a low-risk group, in which 0 of 5 patients recurred (P = 0.004). Frequency of allelic loss in tumor suppressor genes may provide a useful adjunctive prognostic test in medullary thyroid carcinoma.
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PMID:Molecular genotyping of medullary thyroid carcinoma can predict tumor recurrence. 1470 71

This report deals with 3 cases of internal auditory canal metastasis, an extremely rare lesion, few cases having been reported in the international literature. Since pre-operative diagnosis is fundamental in the planning of a correct therapeutic strategy, it is important that the neurotologist be aware of the possibility of their occurrence in this particular area. Metastasis can occur unilaterally as well as bilaterally; the latter being the case in 1 of the patients described herein. Correct pre-operative diagnosis is particularly difficult in patients in whom the primary tumour has not been detected at the time of identification of the lesion in the internal auditory canal. The only characteristic, specific of metastasis, is the presence of multifocal cerebral lesions. However, these were detected in only 1 of the present cases. On the contrary, in cases of a single metastasis, both magnetic resonance imaging and computed tomography usually fail to show any distinctive feature when compared to the most common tumours of the internal auditory canal (vestibular schwannomas and meningiomas). Bilateral metastases can also be misdiagnosed as neurofibromatosis type 2. Clinical data that should alert the clinician are: rapidly progressive sensorineural hearing loss, followed by onset of progressive facial nerve weakness. Radiotherapy and/or chemotherapy are the two main treatment modalities, while surgical removal is reserved for selected cases of a single metastasis. Albeit, due to the paucity of specific radiological and clinical characteristics, surgical removal is often necessary to reach the correct diagnosis, as occurred in 2 of the present patients.
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PMID:Internal auditory canal metastasis. 1546 96

We report a case of a 51-year-old man presenting with rapidly progressive unilateral tinnitus, hearing loss and imbalance. Neuroimaging revealed bilateral VIIIth cranial nerve masses and multiple cerebral and spinal cord lesions that were interpreted as being acoustic schwannomas and multiple meningeomas. An initial tentative diagnosis of neurofibromatosis type 2 (NF2) was made. Both clinical and radiological evolution were atypical for NF2 and the initial diagnosis of NF2 was questioned. Additional technical investigations demonstrated a pulmonary adenocarcinoma. Postmortem examination confirmed that this patient had multiple central nervous system metastases of a primary pulmonary adenocarcinoma, presenting clinically and neuroradiologically as a probable neurofibromatosis type 2. Clinicians should be aware of the rare possibility of central nervous system metastases mimicking NF2.
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PMID:Central nervous system metastases of pulmonary adenocarcinoma mimicking neurofibromatosis type 2. 1689 59

Metastases to the cerebellopontine angles (CPAs) are rare. Typically, the clinical course is one of rapid onset and progression of crarial nerve deficits. The clinical presentation and course of carcinoma metastatic to the CPAs are reviewed. We report a case of bilateral CPA metastases with a radiographic appearance similar to neurofibromatosis type 2 presenting with rapidly progressive bilateral hearing loss followed by unilateral facial nerve palsy.
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PMID:Carcinoma metastatic to both cerebellopontine angles masquerading as acoustic neuromas. 1717 Nov 54

This article constitutes a mini-review of the pathology and genetics of meningiomas. Meningiomas are the most common primary intracranial tumors. They are usually durally based and are often found adjacent to venous sinuses and dural infoldings. The majority of these tumors are WHO grade I, although a minority is WHO grade II, atypical, or WHO grade III, anaplastic. Grade II and III meningiomas show a greater tendency than Grade I tumors to recur and metastasize. The current WHO scheme recognizes 15 histologic subtypes of meningiomas. Nine of these are WHO grade I, three are grade II, and three are grade III. In addition to these histologic subtypes, meningiomas can also be graded on the basis of mitotic activity, evidence of brain invasion, growth pattern cellular density, nuclear atypia, and necrosis. Loss of the long arm of chromosome 22, which is usually associated with inactivation of the NF2 gene, is the most common genetic abnormality found in meningiomas. Other chromosomal abnormalities associated with tumorogenesis and increased gradeof meningiomas include loss of heterozygosity for chromosome 1p, loss of 14q, deletion of 9p21, abnormalities of chromosome 10 and 17q. Telomerase activity increases with meningiomas grade as well. The only proven environmental risk factor for meningiomas is ionizing radiation. Radiation-induced meningiomas are more often multiple and have higher recurrence rates than standard meningiomas.
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PMID:Pathology and genetics of meningiomas. 2219 9

Meningiomas are among the most frequent intracranial tumors. The secretory variant of meningioma is characterized by glandular differentiation, formation of intracellular lumina and pseudopsammoma bodies, expression of a distinct pattern of cytokeratins and clinically by pronounced perifocal brain edema. Here we describe whole-exome sequencing analysis of DNA from 16 secretory meningiomas and corresponding constitutional tissues. All secretory meningiomas invariably harbored a mutation in both KLF4 and TRAF7. Validation in an independent cohort of 14 secretory meningiomas by Sanger sequencing or derived cleaved amplified polymorphic sequence (dCAPS) assay detected the same pattern, with KLF4 mutations observed in a total of 30/30 and TRAF7 mutations in 29/30 of these tumors. All KLF4 mutations were identical, affected codon 409 and resulted in a lysine to glutamine exchange (K409Q). KLF4 mutations were not found in 89 non-secretory meningiomas, 267 other intracranial tumors including gliomas, glioneuronal tumors, pituitary adenomas and metastases, 59 peripheral nerve sheath tumors and 52 pancreatic tumors. TRAF7 mutations were restricted to the WD40 domains. While KLF4 mutations were exclusively seen in secretory meningiomas, TRAF7 mutations were also observed in 7/89 (8 %) of non-secretory meningiomas. KLF4 and TRAF7 mutations were mutually exclusive with NF2 mutations. In conclusion, our findings suggest an essential contribution of combined KLF4 K409Q and TRAF7 mutations in the genesis of secretory meningioma and demonstrate a role for TRAF7 alterations in other non-NF2 meningiomas.
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PMID:Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations. 2340 70


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