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)

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

In this study we analyzed the clinicopathologic features of duodenal smooth muscle or stromal tumors, including 156 GISTs, 6 leiomyomas (LMs), and 5 leiomyosarcomas (LMSs) from the files of the Armed Forces Institute of Pathology and the Haartman Institute of the University of Helsinki. GISTs were documented as KIT positive (n = 109); 47 tumors were also included because of their histologic identity to KIT-positive cases. GIST-specific c-kit gene mutations were documented in exon 11 in 9 of 30 cases (30%) and exon 9 in 4 of 30 cases (13%). The GISTs occurred in patients with an age range of 10-88 years (median 56 years); 54% were male. Ten patients had neurofibromatosis type I; six of them had multiple GISTs. The GISTs ranged from small asymptomatic intramural or external nodules to large masses that extended into the retroperitoneum (median size 4.5 cm). They were mostly spindle cell tumors; three malignant GISTs had an epithelioid morphology, and 81 cases had skeinoid fibers. The tumors often coexpressed CD34 and KIT (54%) and were variably positive for smooth muscle actin (39%) and S-100 protein (20%) but never for desmin. A total of 86% of patients with tumors >5 cm with >5 mitoses/50 high power fields (HPF) (n = 21) died of disease, whereas no tumor <2 cm with <5 mitoses/50 HPF (n = 12) recurred or caused death. Long latency was common between primary operation and recurrences or metastases; either one occurred in 49 of 140 patients with follow-up (35%). No formula could accurately predict metastases, which occasionally developed even if mitotic activity was <5/50 HPF and size <5 cm. Metastases were in the abdominal cavity, liver, and rarely in bones and lungs but never in lymph nodes. Four actin- and desmin-positive and KIT-negative benign intramural LMs were similar to those more often seen in the esophagus. There were five LMSs, one of which formed a polypoid intraluminal mass; all were actin positive and KIT negative. The great majority of duodenal mesenchymal tumors are GISTs, which have a spectrum from small indolent tumors to overt sarcomas. LMs and LMSs are rare.
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PMID:Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the duodenum: a clinicopathologic, immunohistochemical, and molecular genetic study of 167 cases. 1271 47

The authors describe a 9-year-old boy with a large spinal cord ependymoma whose apparent drop metastases on imaging studies were later demonstrated to be schwannomas. This finding led to the discovery of small bilateral acoustic neuromas and an intracranial meningioma, establishing the diagnosis of neurofibromatosis 2. The presence of additional radiographic abnormalities in a patient with a spinal cord tumor should prompt careful consideration of the diagnosis of neurofibromatosis 2, as early identification of this disorder may significantly affect patient management.
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PMID:Spinal cord schwannomas mimicking drop metastases in a patient with intramedullary ependymoma and neurofibromatosis 2. 1470 16

Malignant peripheral nerve sheath tumours (MPNSTs) are rare soft tissue neoplasms arising from elements of the nerve sheath that often occur in the context of neurofibromatosis (NF) type 1. Their poor prognosis results from high local recurrence rate and distant dissemination. Nevertheless, the brain metastases are exceptional. We are presenting an unusual case of intrathoracic MPNST in a 33-year-old man with a five-year clinical course characterised by multiple times local recurrences of primary tumour and multiple remote metastases into the brain structures, thyroid and suprarenal gland. Moreover, the cerebellar metastasis regrew in spite of its total excision. Histologically, brain metastatic tumours were composed of spindle cells closely arranged in interlacing and woven fascicles. This highly cellular nerve tissue exhibited an advanced nuclear hyperchromasia and a high mitotic activity. The tumour exhibited rich delicate reticulin network. The schwannian nature of brain metastases has been confirmed by immunohistochemical findings showing S-100 protein and GFAP expression and ultrastructural evidences of the pericellular basal lamina.
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PMID:Multiple brain metastases from malignant peripheral nerve sheath tumour (MPNST). 1511 45

Malignant schwannomas are uncommon sarcomas that arise from the sheath of Schwann surrounding peripheral nerve fibers. These tumors may arise spontaneously in adult patients or may occur with reportedly increased frequency in patients with neurofibromatosis Type I. The tumors have had a reputation for malignancy with rapid metastasis, especially when they arise in relation to neurofibromatosis. We have reviewed the experience of the connective tissue oncology unit with patients with these tumors during the past 25 years. There were 80 malignant schwannomas identified in 41 females and 39 males with a mean age of 36 +/- 17 years. The largest numbers of tumors were seen in the thigh, shoulder, and pelvis but they also occurred in more central (abdomen and thorax) and distal (forearm, hand and foot) locations. The Musculoskeletal Tumor Society stages showed that the majority of the patients had Stage II (high grade but not metastasized) tumors; however, additionally, 10 of the patients had metastases at outset (Stage III). Patient gender was not a factor but stage was a notable determinant of survival. Anatomic location also had a significant effect. Overall, the entire series of patients had a survival of 85% at 11 +/- 5 years and even more remarkable was the fact that there was no difference between the numbers and outcome statistics for tumors arising spontaneously and those occurring in patients with neurofibromatosis.
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PMID:Survival data for patients with malignant schwannoma. 1534 54

The malignant tumor deriving from the peripheral nerve sheet, previously described as malignant Schwannoma or neurosarcoma is extremely rare as malignancy localized in the larynx. The half of cases has been developing on the basis of neurofibromatosis in von Recklinghausen disease type I or seldom, type II. The high grade of malignancy end tendency to reccurences and distant metastases is typical for this tumors. The case of 64 year old man with larynx neurosarcoma was presented. The diagnostic difficulties were caused by clinical presentation of the smooth tumor covered by unchanged mucosa and typical histological features of the tumor. The final histological assessment was complemented by positive immunohistochemical reaction (antigens against protein S-100, NSE and PG 9.5).
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PMID:[Diagnostic difficulties in the laryngeal malignant peripheral nerve sheath tumor (MPNST)]. 1573 35

Adrenal cortical carcinoma (ACC) is a rare childhood neoplasm that seldom manifests brain metastases; hence few papers in the literature focus on neurological manifestations associated with ACC. Although ACC is known to be a signature tumor type in several inherited cancer predisposition syndromes, particularly Li Fraumeni, ACC has not been previously associated with neurofibromatosis, type 1 (NF-1), an inherited disorder with frequent CNS lesions that might prompt concern for metastatic disease by neuroimaging studies. We present two pediatric patients with ACC and unusual CNS findings. The first child developed metastasis to the brain 4 years after resection of his adrenal primary and 2 and 1 years, respectively, after metastases to the liver and lungs. Soon after our experience with this patient, a girl with known NF-1 presented with virilization; adrenalectomy disclosed an ACC and systemic metastases were found within months. Disseminated disease prompted concern that her complex intracranial lesions identified by neuroimaging studies might represent brain metastases, but this proved to be NF1-related hamartomatous lesions. We review the literature on ACCs in pediatric patients regarding brain metastases and previous associations with NF-1.
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PMID:Pediatric adrenal cortical carcinoma: brain metastases and relationship to NF-1, case reports and review of the literature. 1613 17

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

Malignant peripheral nerve sheath tumors are rare spindle-cell sarcomas derived from Schwann cells or pluripotent cells of the neural crest. They arise from the spinal roots, peripheral nerves, brachial and lumbosacral plexi, cranial nerves and terminal nerve fibers within soft tissue, intestine, lung and bone. These tumors recur either locally, or metastasize distally. Most of these tumors occur in association with neurofibromatosis type 1. Spinal cord metastasis from malignant nerve sheath tumors associated with neurofibromatosis type 1 is very rare. We describe a rare case of near-total spinal cord metastasis in a patient with malignant nerve sheath tumor in the absence of neurofibromatosis, and highlight the microscopic findings and natural history of this disease process.
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PMID:Spinal cord metastasis of a non-neurofibromatosis type-1 malignant peripheral nerve sheath tumor: an unusual manifestation of a rare tumor. 1619 90

Duodenal gastrointestinal stromal tumors (GIST) have been described primarily in isolated case reports. In order to learn more about duodenal GIST, a retrospective review of patients with GIST managed at a single institution between 2000 and 2005 was conducted. Thirty-eight GIST of the stomach and small bowel were analyzed. Eight (21%) were duodenal GIST. The median size of duodenal GIST (6.0 cm) and small bowel GIST (6.3 cm) was larger than the median size of gastric GIST (3.0 cm). The most common presentation of duodenal GIST was bleeding (50%) which was similar to other small bowel GIST (49%) but different from gastric GIST which were most commonly an incidental finding (62%). Two patients (25%) with duodenal GIST had a history of neurofibromatosis. The duodenal GIST were located in the 2nd (n = 5, 63%) and 3rd portion of duodenum (n = 3, 37%). Seven of 8 patients underwent complete resection of duodenal GIST. Pancreaticoduodenectomy was the most common operation performed (n = 5); 2 patients were treated with partial duodenal resection. No patients undergoing pancreaticoduodenectomy (n = 5) were found to have lymph node metastases. No patients received neo-adjuvant or adjuvant therapy with Imatinib. Following resection, 2 patients have recurred (12 and 48 mo.), 4 patients are without disease (1, 6, 6, and 24 mo.), 1 patient died postoperatively. Duodenal GIST are relatively rare tumors that present most commonly with gastrointestinal bleeding. Duodenal GIST are associated with neurofibromatosis. Many duodenal GIST require pancreaticoduodenectomy for complete removal.
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PMID:Presentation and management of gastrointestinal stromal tumors of the duodenum. 1691 16


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