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

Malignant peripheral nerve sheath tumor (MPNST) or neurofibrosarcoma, previously described as malignant Schwannoma or neurosarcoma, is an extremely rare cause of malignancy localized in the neck. Half of reported cases occurred in patients with neurofibromatosis in Von Recklinghausen disease type I. Typical features include high grade malignancy and a tendency to recurrence and distant metastases. We report the case of a 56-year-old woman with neurosarcoma of the neck, which was revealed by a cervicobrachial neuralgia. The physical examination found a mass on the left side of the neck. Plain radiographs showed osteoarthritis. MRI showed a well-defined paravertebral mass. Pathologic diagnosis was neurosarcoma. Radiotherapy was delivered.
 ...
PMID:[Cervicobrachial neuralgia revealing neurosarcoma]. 1834 62

Malignant peripheral nerve sheath tumors (MPNSTs) develop in patients with underlying NF1, and usually arise as a result of malignant transformation of a pre-existing plexiform neurofibroma. The clonal cytogenetic abnormalities reported in primary MPNST include complex karyotypes with chromosome numbers in the triploid or tetraploid range with recurrent abnormalities of several chromosomes including losses or imbalances. As a prelude to cell biological, pharmacological, and functional studies to investigate pathways and gene(s) associated with multistep tumorigenesis, which includes progression, metastasis and resistance to therapy in MPNST, detailed molecular cytogenetic and genetic analyses of cell lines from primary, metastatic and recurrent MPNST with underlying NF1 disorder have been performed. The clonal cytogenetic abnormalities detected in the primary tumor cell line were similar to those observed in primary cultures of this tumor. Due to the complexity of the rearrangements seen by G-banded karyotype analysis, further characterization of the clonal abnormalities in these three cell lines was performed by molecular cytogenetic techniques, including CGH and SKY. CGH analysis detected recurrent deletions of 9p, 12q21-q32, complete losses of the X-chromosome, and gains of the chromosomal segment 17q25 in all three cell lines. SKY analysis detected extensive clonal abnormalities in these cell lines. The nature and the alterations of the cell cycle regulators, particularly those associated with G1-S checkpoints and known to be deregulated in MPNST, were studied. These cell cycle regulators included those associated with Rb1-cyclin D1 and the p53 pathways. The findings are consistent with the argument that an imbalance between the cyclin activators of CDKs and inhibitory proteins such as p16 result in uncontrollable proliferation in the cell lines, associated with progression of the disease. LOH and expression of the p53 gene in metastatic and recurrent cell lines was observed, as reported by others. The role of biallelic inactivation of p53 gene in MPNST with underlying NF1 mutations, however, needs further study. Overexpression of Rb1-protein observed in metastatic and recurrent cell lines is indicative of its role in the progression of the disease. One of the most important observations of this study is that Nm23-H1 expression is closely associated with advanced or metastatic disease. In summary, MPNST cell lines derived from a patient with metastatic and recurrent disease with NF1 disorder were characterized and a gene associated with metastatic potential which is amenable to therapeutic and chemo-preventative approaches was identified. These cell lines with extensive characterization of genetic abnormalities are likely to provide important reagents for biochemical, molecular and pharmacological studies related to MPNST.
 ...
PMID:Molecular characterization of permanent cell lines from primary, metastatic and recurrent malignant peripheral nerve sheath tumors (MPNST) with underlying neurofibromatosis-1. 1941 72

Malignant peripheral nerve sheath tumors (MPNSTs) are sarcomas that derive from peripheral nerves or from cells associated with the nerve sheath. Magnetic resonance imaging is the main diagnostic imaging modality for evaluating MPNSTs. Computed tomography (CT) of the chest is the main imaging modality used to screen for distant disease, and bone scanning is considered useful for identifying selected metastases. Fluorodeoxyglucose positron emission tomography (FDG-PET) has been useful for differentiating malignant nerve sheath tumors from benign lesions and appears to be able to forecast prognosis. We report a case of a patient with neurofibromatosis 1 (NF1) with a histological diagnosis of MPNST, which was diagnosed by biopsy of a posterior right thigh mass examined by (18)F-FDG-PET/CT.
 ...
PMID:Plurifocal malignant peripheral nerve sheath tumor demonstrated by 18F-fluorodeoxyglucose positron emission tomography/computed tomography. 1985 28

Malignant melanoma can metastasize widely and vary significantly in its histological appearance; it rarely presents as a deep-seated mass without an obvious primary site elsewhere. Malignant peripheral nerve sheath tumor (MPNST) is a high-grade sarcoma characterized by conventional and epithelioid subtypes. MPNST can demonstrate heterologous differentiation, usually in the form of osteosarcomatous, chondrosarcomatous, or rhabdomyosarcomatous differentiation. MPNST does not harbor true melanocytic differentiation, although epithelioid MPNST typically is diffusely S-100 protein positive and superficially can resemble malignant melanoma. An unusual intra-abdominal mass was recently encountered with features of both melanoma and conventional or epithelioid MPNST containing a fascicular spindle cell component, an epithelioid component with melanocytic differentiation, as well as a rhabdomyosarcomatous component. The terminology "malignant neuroectodermal tumor with melanocytic and rhabdomyoblastic differentiation" is proposed to describe this neoplasm, reflecting the unusual concomittant lines of differentiation as well as offering a possible rationale for nosologically challenging aspects of this neoplasm.
 ...
PMID:Malignant neuroectodermal tumor with melanocytic and rhabdomyoblastic differentiation. 2113 5

Malignant peripheral nerve sheath tumor (MPNST) is a rare malignant counterpart to benign neurogenes tumors such as schwannomas and neurofibromas and account for approximately 5-10 % of all soft tissue sarcomas. This neoplasm is also referred to older designations as a malignant schwannoma, malignant neurilemmoma or neurogenic sarcoma. A patient was a woman of 59 years old with a diagnosed malignant neurilemmoma, treated since 1993. Operated several times and subjected to radiotherapy due to the local recurrence of the tumors located in the soft tissues of the back until 2002; Treated with chemotherapy (doxorubicin) and operated due to a lung metastases. The therapy resulted in a total remission that lasted 12 months. In 2004 a new small tumor was diagnosed in the right lung, which had been followed up until 2006. The patient did not give permission to a second surgery, treated with ifosfamide. In 2006 she was operated for renal cell carcinoma of the left kidney. In 2009, due to a following progression of neurilemmoma and a worsening overall condition, she was subsequently treated with a combination of gemcitabine and docetaxel. The treatment resulted in a slight improvement, but was stopped due to complications (pancytopenia). In 2010 another progression of the disease occurred, which resulted in pleural metastases and osteolytic lesions in the vertebrae (Th6 and L2).
 ...
PMID:[Malignant peripheral nerve sheath tumor associated with clear cell renal cell carcinoma - case report]. 2256 77

Malignant peripheral nerve sheath tumor (MPNST) is a rare high-grade soft tissue sarcoma. The epithelioid variant accounts for 5% or less of MPNSTs; the clinical behavior of this variant is unclear. Reports of approximately 40 cases are available in the English literature; however, most reports addressed clinicopathological features rather than therapeutic procedures or clinical courses. We describe a case of a 62-year-old male with an epithelioid MPNST of the left foot. Multiple lung metastases developed after radical surgery on the primary lesion. The response to adjuvant chemotherapy including doxorubicin and ifosfamide was favorable, and thoracoscopic resection was subsequently performed on the remaining three metastases. No evidence of recurrence or metastasis was observed at the 12-month followup after the first operation. Further followup and chemotherapy may be required.
 ...
PMID:Advanced epithelioid malignant peripheral nerve sheath tumor showing complete response to combined surgery and chemotherapy: a case report. 2260 46

Malignant peripheral nerve sheath tumors (MPNSTs) are highly aggressive soft tissue sarcomas accounting for 3%-10% of all soft tissue sarcomas. Neurofibromatosis type 1 (NF1) is the most important known risk factor. MPNSTs are often diagnosed at an advanced stage when distant metastases have developed. Although surgical resection remains the main treatment for MPNSTs, complete surgical resection is rarely possible. The prognosis for patients with MPNSTs is poor. There is an urgent need for improved therapies. To this end, we investigated whether microRNA (miR), specifically miR-204, might be implicated in MPNSTs because it is located at a cancer-associated genomic region exhibiting high frequency of loss of heterozygosity in tumors. We show that miR-204 expression is downregulated in NF1 and non-NF1 MPNST tumor tissues and in tumor cell lines. Restoring miR-204 expression in MPNST cell lines STS26T (non-NF1), ST88-14 (NF1), and T265p21 (NF1) significantly reduces cellular proliferation, migration, and invasion in vitro. Restoring miR-204 expression in STS26T decreases tumor growth and malignant progression in vivo. We also report that miR-204 inhibits Ras signaling and expression of high mobility group gene A2. These findings support the hypothesis that miR-204 plays critical roles in MPNST development and tumor progression. miR-204 may represent a novel biomarker for diagnosis and a candidate target with which to develop effective therapies for MPNSTs.
 ...
PMID:MicroRNA-204 critically regulates carcinogenesis in malignant peripheral nerve sheath tumors. 2271 95

Primary chest wall tumors are uncommon and constitute 0.2-2% of all tumors. Metastatic tumors and tumors of local extension are more common. Malignant peripheral nerve sheath tumor (MPNST) of the chest wall is even rarer and its incidence on the chest wall not stated in the literature. The incidence in the general population is 0.0001% while the risk is approximately 4600 times higher in patients with type I neurofibromatosis and 3-13% of them will finally develop into MPNST, usually after latent periods of 10-20 years. Clinically, these tumors are aggressive, locally invasive, and highly metastatic. Excision of giant chest wall tumor leaves a defect that is reconstructed using musculocutaneous flaps with or without a mesh. We report the case of a 24-year-old man who presented at the surgical outpatient clinic with 7 months history of persistent left sided chest pain minimally relieved by analgesics, 5 months of cough and worsening dyspnoea, and 3 months history of anterior chest swelling on the left side of the manubrium. Following evaluation and investigations, the tumor was excised and the residual defect closed with methylmetacrylate sandwiched between two prolene meshes and overlaid with both pectoralis major muscles. The histology of the excised mass revealed MPNST He made an uneventful postoperative recovery, but died barely 3 months later from widespread pulmonary metastases. A review of the literature revealed that such tumors hardly ever reach such large-size as in our case.
 ...
PMID:Reconstruction of the chest wall after excision of a giant malignant peripheral nerve sheath tumor. 2323 3

Malignant peripheral nerve sheath tumors (MPNSTs) are malignant tumors with a high rate of local recurrence and a significant tendency to metastasize. Its dismal outcome points to the urgent need to establish better therapeutic strategies for patients harboring MPNSTs. The investigations of genomic and molecular aberrations in MPNSTs which detect many chromosomal aberrations, pathway abnormalities, and specific molecular aberrant events would supply multiple potential therapy targets and contribute to achievement of personalized medicine. The involved genes in the significant gains aberrations include BIRC5, CCNE2, DAB2, DDX15, EGFR, DAB2, MSH2, CDK6, HGF, ITGB4, KCNK12, LAMA3, LOXL2, MET, and PDGFRA. The involved genes in the significant deletion aberrations include CDH1, GLTSCR2, EGR1, CTSB, GATA3, SULT2A1, GLTSCR2, HMMR/RHAMM, LICAM2, MMP13, p16/INK4a, RASSF2, NM-23H1, and TP53. These genetic aberrations involve in several important signaling pathways such as TFF, EGFR, ARF, IGF1R signaling pathways. The genomic and molecular aberrations of EGFR, IGF1R, SOX9, EYA4, TOP2A, ETV4, and BIRC5 exhibit great promise as personalized therapeutic targets for MPNST patients.
...
PMID:Genomic and molecular aberrations in malignant peripheral nerve sheath tumor and their roles in personalized target therapy. 2383 Mar 51

Malignant peripheral nerve sheath tumors are soft tissue neoplasms that show differentiation toward cells of the nerve sheath. They often arise from peripheral nerves or preexisting benign nerve sheath tumors and are generally high-grade neoplasms, which behave aggressively with high incidence of distant metastases. Malignant peripheral nerve sheath tumor can be histologically diverse and is difficult to diagnose because of its morphological overlap with a variety of other sarcomas and its lack of specific immunohistochemical markers or genetic profile. We review the pathology of malignant peripheral nerve sheath tumor, with reference to etiology, molecular genetics, and clinical factors.
...
PMID:Malignant peripheral nerve sheath tumor: pathology and genetics. 2441 43


<< Previous 1 2 3 4 5 Next >>