Abstract:
:In sporadic schwannomas, inactivation of both copies of the NF2 tumor suppressor gene on 22q is common. Constitutional mutations of SMARCB1 are responsible of schwannomatosis, an inherited tumor predisposition syndrome, characterized by the development of multiple schwannomas. We analysed the frequency of copy number changes on chromosome 22 and the mutation of NF2 and SMARCB1 in 26 sporadic schwannomas. We found two spinal schwannomas with an identical somatic missense mutation in SMARCB1 exon 9: p.(Arg377His). Both SMARCB1 mutated schwannomas had LOH of 22q and one of them harbored an inactivating mutation of NF2. The p.(Arg377His) change was not found in a series of 28 vestibular schwannomas. Our data indicate that mutations affecting SMARCB1 play a role in the development or progression of a small subset of spinal schwannomas and that biallelic inactivation of SMARCB1 may cooperate with deficiency of NF2 function in schwannoma tumorigenesis according to the "four-hit/three events" mechanism of tumorigenesis that we demonstrated in schwannomatosis-associated schwannomas.
journal_name
J Neurooncoljournal_title
Journal of neuro-oncologyauthors
Paganini I,Capone GL,Vitte J,Sestini R,Putignano AL,Giovannini M,Papi Ldoi
10.1007/s11060-017-2711-6subject
Has Abstractpub_date
2018-03-01 00:00:00pages
33-38issue
1eissn
0167-594Xissn
1573-7373pii
10.1007/s11060-017-2711-6journal_volume
137pub_type
杂志文章abstract::Patients with neglect fail to report, respond to, or orient to stimuli presented on the opposite side of the brain lesion. Spatial neglect is a multi-componential syndrome and many of its symptoms and signs need specific testing to detect their different clinical manifestations. Given that neglect has a dramatic effec...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-012-0820-9
更新日期:2012-06-01 00:00:00
abstract::Gliomatosis cerebri (GC) are extensively infiltrative glial tumors classified as astrocytic tumors in the current World Health Organization (WHO) classification scheme. In investigating the tumorigenesis of GC, we reviewed 28 cases of GC immunohistochemically and carried out array-based comparative genomic hybridizati...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-008-9665-7
更新日期:2008-12-01 00:00:00
abstract::Although 1p19q codeleted gliomas are the most favorable molecular subgroup of lower-grade gliomas, there are cases with early recurrence or short survival. The objective of this study was to elucidate molecular-genetic and clinicopathological prognostic factors in patients with gliomas showing total 1p19q loss. The st...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-016-2344-1
更新日期:2017-03-01 00:00:00
abstract::Hepatoma-derived growth factor (HDGF) is a neurotrophic factor found in mouse spinal cord and hippocampal neurons. In various malignant tumors, the role of HDGF in tumor progression and its use as a diagnostic biomarker or therapeutic target have been extensively explored. However, the prognostic function and mitogeni...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-011-0733-z
更新日期:2012-03-01 00:00:00
abstract:BACKGROUND:Malignant peripheral nerve sheath tumors (MPNSTs) are rare tumors, generally high-grade, and comprise ~ 5-10% of soft tissue sarcomas. Over two-thirds of MPNSTs metastasize, and upwards of 40% clinically recur. Etiologic risk factors for MPNSTs are historically understudied. There is evidence to suggest MPNS...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-018-2842-4
更新日期:2018-08-01 00:00:00
abstract::Craniopharyngiomas and pituitary adenomas are both tumors of the hypothalamic and pituitary region, respectively that are frequently associated with endocrine defects either because of direct involvement of hormone producing cells (most pituitary tumors) or because of secondary defects due to disturbance of hypothalam...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-004-5232-z
更新日期:2005-07-01 00:00:00
abstract::To determine the impact of delay between surgery and radiotherapy on overall survival (OS) in temozolomide treatmented patients with the incorporation of O6-methylguanine-DNA methyltransferase (MGMT). From 2000 to 2012, 345 consecutive glioblastoma patients were treated with surgery, radiotherapy, and temozolomide at ...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-013-1302-4
更新日期:2014-01-01 00:00:00
abstract::This paper describes the pathobiology of some of the more common skull base tumors. In addition to clinicopathologic features, emphasis is placed upon methods of diagnosis utilizing immunoperoxidase stains and molecular markers that may or may not impact upon prognosis. ...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章,评审
doi:10.1007/BF01053041
更新日期:1994-01-01 00:00:00
abstract::The actual role of 18F-FDG PET/CT in evaluating primary brain lymphoma is still an open issue. Brain lymphoma usually show elevated 18F-FDG uptake, often higher than other brain tumors or inflammatory processes, but the metabolic behavior of this lymphoma is not still understood. Our aim was to investigate the particu...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-017-2686-3
更新日期:2018-02-01 00:00:00
abstract::The use of radiation therapy in the management of intramedullary spinal cord tumors remains controversial. Several studies indicate that the use of postoperative radiation therapy modestly improves both local control and survival in spinal cord ependymomas and astrocytomas. Modern treatment planning and imaging allow ...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章,评审
doi:10.1023/a:1006470523052
更新日期:2000-05-01 00:00:00
abstract::Following surgical resection for brain metastases, fractionated stereotactic radiotherapy (FSRT) has been used as an alternative to single dose treatment for large cavities and to reduce risks of late toxicity. The purpose of this study was to evaluate the outcomes of patients treated with FSRT to the post-operative b...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-014-1417-2
更新日期:2014-05-01 00:00:00
abstract::Patients with metastatic disease are living longer and may be confronted with locally or regionally recurrent brain metastases (BM) after prior stereotactic radiosurgery (SRS) or fractionated stereotactic radiotherapy (FSRT). This study analyzes outcomes in patients without prior whole brain radiotherapy (WBRT) who we...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-013-1191-6
更新日期:2013-10-01 00:00:00
abstract::Degradation and remodelling of the extracellular matrix has been investigated, with the main focus on the balance between matrix metalloproteinases (MMP) and tissue inhibitor of metalloproteinases (TIMP). Recent reports disclose the presence of a novel MMP-inhibiting cell membrane-anchored glycoprotein designated 'rev...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-008-9606-5
更新日期:2008-09-01 00:00:00
abstract:PURPOSE:Elongation of telomeres is necessary for tumor cell immortalization and senescence escape; neoplastic cells use to alternative pathways to elongate telomeres: telomerase reactivation or a telomerase-independent mechanism termed alternative lengthening of telomeres (ALT). Telomerase and ALT pathway has been expl...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-019-03127-w
更新日期:2019-05-01 00:00:00
abstract::Reactivation of latent herpes simplex virus (HSV) type I or varicella-zoster virus (VZV) has been recognized as the most common pathomechanism underlying Bell's palsy. There is also increased reactivation of HSV or VZV in patients with immunosuppressed states and in cancer patients. The purpose of this study was to in...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-012-0954-9
更新日期:2012-11-01 00:00:00
abstract::Hypoxia-inducible factor (HIF)-1α and HIF-2α expression were investigated immunohistochemically as determinants of prognosis in 42 cases of astrocytic tumors associated with necrosis grade on magnetic resonance (MR) imaging. Expression of HIF-1α was determined immunohistologically. The degree of necrosis on MR images ...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-010-0292-8
更新日期:2011-03-01 00:00:00
abstract::Our previous investigations correlated the degree of cytogenetic and immunophenotypic heterogeneity of cultured normal glia, astrocytomas and malignant gliomas. The possible significance was suggested by the statistical correlation of individual antigens with diagnosis and patient survival. The present study has estab...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/BF02341157
更新日期:1990-12-01 00:00:00
abstract:INTRODUCTION:Malignant gliomas have a dismal prognosis and significant efforts are being made to develop more effective treatments. Sonodynamic therapy (SDT) is an emerging modality for cancer treatment which combines ultrasound with sonosensitizers to produce a localized cytotoxic effect. The aim of this study is to d...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-020-03536-2
更新日期:2020-07-01 00:00:00
abstract::Medulloblastomas (MB) are the most common central nervous system malignancies in children. Numerous publications describe certain efforts to identify predictive value of various patterns of MB pathology and immunohistochemistry but received data appear to be controversial. In the present study, the apoptotic index (AI...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1023/a:1016226319068
更新日期:2002-07-01 00:00:00
abstract::The labeling index (LI) of 216 cases of human brain tumors was determined by the immunohistochemical technique with monoclonal antibody to bromodeoxyuridine (BrdU). The proliferative potential of 110 cases was estimated using the intra-operative intravenous infusion of BrdU at a dose of 200 mg/sq m. In another 106 cas...
journal_title:Journal of neuro-oncology
pub_type: 临床试验,杂志文章
doi:10.1007/BF01059949
更新日期:1995-01-01 00:00:00
abstract:PURPOSE:The highly vascular malignant brain tumor glioblastoma (GBM) appears to be an ideal target for anti-angiogenic therapy; however, clinical trials to date suggest the VEGF antibody bevacizumab affects only progression-free survival. Here we analyze a group of patients with GBM who received bevacizumab treatment a...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-019-03102-5
更新日期:2019-04-01 00:00:00
abstract::Two patients with metastasis from lung carcinoma of the midbrain are presented. The computerized tomographic (CT) findings mimicked a primary pineal tumor, but autopsy confirmed a metastatic nodule in the midbrain in both cases. The rational approach to posterior third ventricular tumors seen on CT in adulthood is dis...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/BF00165161
更新日期:1984-01-01 00:00:00
abstract::Global and gene-specific changes to the epigenome are hallmarks of most tumours including those of pituitary origin, and this fact might offer important clues about diagnostic and therapeutic applications. We performed global DNA methylation screening with 6 invasive and 6 noninvasive nonfunctioning pituitary adenomas...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-016-2139-4
更新日期:2016-08-01 00:00:00
abstract::Radiation therapy (RT) for brain tumors is associated with neurocognitive toxicity which may be a result of damage to neural progenitor cells (NPCs). We present a novel technique to limit the radiation dose to NPC without compromising tumor coverage. A study was performed in mice to examine the rationale and another w...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-011-0530-8
更新日期:2011-09-01 00:00:00
abstract:PURPOSE:The uptake of the boron compound Na2B12H10-SH (BSH) in tumor and normal tissues was investigated in the frame of the EORTC phase I trial 'Postoperative treatment of glioblastoma with BNCT at the Petten Irradiation Facility' (protocol 11961). METHODS AND MATERIALS:The boron concentration in blood, tumor, normal...
journal_title:Journal of neuro-oncology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/BF02699941
更新日期:2003-03-01 00:00:00
abstract:PURPOSE:Glioblastoma multiforme (GBM) is a common and aggressive malignancy associated with poor prognosis. Characteristics and treatment of long-term survivors are of particular interest in efforts to improve outcomes. Therefore, the objective of this study was to examine trends and prognostic factors for 3-year survi...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-020-03469-w
更新日期:2020-05-01 00:00:00
abstract::Central neurocytoma was originally described as a rare benign neuronal tumor. However, progression and local recurrences after surgery are well recognized. Stereotactic radiosurgery is another option for treatment of CN. In order to evaluate the efficacy of SRS, we performed a quantitative systematic review of the ava...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章,评审
doi:10.1007/s11060-012-0803-x
更新日期:2012-05-01 00:00:00
abstract::The diagnosis of a high-grade glioma usual is followed by functional impairment(s), cognitive decline and an impaired psycho-social well-being. This might well have a significant and negative impact on the health related quality of life. The purpose of this study was to explore physical activity levels, prevalence and...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-015-1821-2
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVES:To study the inhibitory effects of plasmid-based siRNA targeting human epidermal growth factor receptor (EGFR) on tumor proliferation and invasion of TJ905 glioblastoma cells. METHODS:Two siRNA expression constructs targeting human EGFR extracellular domain (516-536) and catalytic domain (2400-2420) were tr...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-004-8322-z
更新日期:2005-09-01 00:00:00
abstract::Successful management of a heavily pretreated 58-year-old woman with metastatic esthesioneuoblastoma using temozolomide is reported. There is no standard treatment of this tumors with extra- and intracranial manifestations. The response, long term stability and high quality of life using temozolomide for this tumor en...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1023/b:neon.0000040826.30636.4a
更新日期:2004-10-01 00:00:00