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 tumors (MPNSTs) are uncommon soft tissue tumors. In children with neurofibromatosis 1 (NF1), a MPNST often arises in a pre-existing neurofibroma, or may represent an initial manifestation without other obvious stigmata of the disease. The development of MPNSTs may be associated with instability of the p53 tumor suppressor gene since it is the most frequent genetic abnormality in soft tissue sarcomas. To assess the presence of p53 accumulation in MPNSTs and its correlation with clinical and pathologic features, we studied 12 neurofibromas (NFs), including 4 tumors with cellular features (one congenital) and 10 MPNSTs. Six MPNSTs were associated with NF1, all of which developed within a plexiform neurofibroma. Cell proliferation evaluated with an antibody to Ki-67 and nuclear p53 staining were both detected by immunohistochemistry. We found p53 positivity in 60% of MPNSTs. All NFs except the congenital tumor were p53 immunonegative (P < 0.01). Rare p53-positive nuclei were detected in the transitional zone in two of six MPNSTs arising in plexiform NFs. Ki-67 distinguished the NFs from MPNSTs (P < 0.005). Half of the NF1 patients with p53-positive MPNSTs developed recurrence or metastases or developed a second malignancy within 2 years of diagnosis, whereas patients with p53-positive sporadic MPNSTs were free of disease 1 to 7 years later. We found p53 accumulation more frequently in NF1-associated MPNSTs. p53 mutations may be an additional biologic factor to account for the poor prognosis in these tumors.
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PMID:p53 and Ki-67 proliferating cell nuclear antigen in benign and malignant peripheral nerve sheath tumors in children. 1034 83

Malignant peripheral nerve sheath tumor is a very rare soft tissue tumor in the general population but there is an increased incidence in patients with neurofibromatosis type 1. Two cases of malignant peripheral nerve sheath tumor associated with neurofibromatosis type 1 whom we were able to follow-up long term are presented. Although wide excision was performed successfully in these patients, they suffered from local recurrence of the tumors shortly after surgery and died with distant metastases. The literature concerning the natural history and the management of this specific condition was reviewed.
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PMID:Malignant peripheral nerve sheath tumor with neurofibromatosis type 1: a 2-case report and review of the literature. 1133 91

Extraosseous uptake of Tc-99m MDP has been reported in various pathologic conditions. Because of the opportunity of make an additional diagnosis, extraskeletal distribution of tracer should be inspected in every case. Malignant peripheral nerve sheath tumor (MPNST) is a rare type of neurogenic tumor. Its main clinical manifestation is a mass with or without pain. MPNST can be seen in all 4 extremities, the trunk, head and neck regions, but most commonly occur in the thigh, buttocks, and supraclavicular regions. Presented here is a rare case of MPNST in which Tc-99m MDP uptake by the primary lesion and metastases were clearly demonstrated on bone scintigraphy.
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PMID:Tc-99m MDP uptake in retroperitoneal malignant peripheral nerve sheath tumor and its metastases. 1637 27

Malignant peripheral nerve sheath tumor (MPNST) is rare, but is one of the most frequent non-rhabdomyosarcoma soft-tissue sarcomas in the pediatric population. These tumors occur most frequently at axial sites and are characterized by local aggressiveness and a propensity to metastasize. They are often associated with neurofibromatosis type 1 (NF-1): the lifetime risk of patients with NF-1 developing MPNST has been estimated at 8-13%, compared with 0.001% in the general population. Because of the rarity of this tumor, little information is available on its clinical management, particularly in the pediatric age group. In a recent report on the clinical findings and treatment outcomes from a large number of children and adolescents with MPNST in an Italian and German series, less satisfactory overall outcomes than those for other pediatric sarcomas were described. Therefore, the approach to the treatment of patients with MPNST should be aggressive and risk adapted, and is necessarily complex. Patients should be referred to selected institutions with adequate experience in treating soft-tissue sarcomas, and with the multidisciplinary skills for enrolling patients in clinical trials. Surgical resection represents the mainstay of treatment, while the role of adjuvant treatment is not yet clear. Post-operative radiotherapy seems to have a role in improving local control, although the potential morbidity of irradiation should be taken into account, particularly when treating children. Although lack of local control is the major cause of treatment failure, MPNST may give rise to distant metastases. These tumors are usually considered as having uncertain chemosensitivity, but recent evidence suggests that there may be a role for chemotherapy in patients with a high-grade histology. For the near future, our hopes lie in the development of novel tailored therapies directed specifically against the molecular targets of the neoplastic cells: soft-tissue sarcomas seem particularly promising candidates for targeted therapy.
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PMID:Management of childhood malignant peripheral nerve sheath tumor. 1770 63

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.
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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.
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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.
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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.
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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).
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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.
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PMID:Advanced epithelioid malignant peripheral nerve sheath tumor showing complete response to combined surgery and chemotherapy: a case report. 2260 46


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