Abstract:
:Hot spot mutations in the promoter region of telomerase reverse transcriptase (TERT promoter mutations) occur frequently in tumors of neuroectodermal origin such as melanoma and glioma. Many of these tumors are of neuroectodermal or ectomesenchymal origin which is suggestive of TERT promoter mutations playing a role in the development of malignant peripheral nerve sheath tumors (MPNSTs). In melanoma a correlation has been suggested between the occurrence of TERT promoter mutations and v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) mutations. We investigated TERT promoter and BRAF mutation frequency in respectively 94 and 86 consecutive MPNST cases from our institute. TERT promoter mutation analysis on DNA from formalin-fixed, paraffin-embedded specimens was performed by SNaPshot analysis. Sequence analysis of BRAF was performed by bidirectional DNA sequencing. We identified TERT C228T or C250T promoter mutations in 10 % (9/94) and BRAF V600E mutations in 3 % (3/86) of MPNSTs. All TERT promoter- and BRAF mutations occurred in NF1 unrelated tumors. One co-occurrence of a TERT promoter- and a BRAF mutation was observed. In comparison with other neuroectodermal derived malignant neoplasms, TERT promoter mutations occur at relatively low frequency in MPNSTs. The observation of TERT promotor and BRAF mutations in sporadic MPNSTs and the absence of TERT promotor and rarity of BRAF mutations in NF1 related tumors may imply an alternative genetic route of tumor progression in both patient groups.
journal_name
J Neurooncoljournal_title
Journal of neuro-oncologyauthors
Dubbink HJ,Bakels H,Post E,Zwarthoff EC,Verdijk RMdoi
10.1007/s11060-014-1553-8subject
Has Abstractpub_date
2014-11-01 00:00:00pages
267-72issue
2eissn
0167-594Xissn
1573-7373journal_volume
120pub_type
杂志文章abstract::Aneurysmal bone cysts (ABCs) are benign bone lesions with annual incidences ranging from 1.4 to 3.2 cases per million people. Approximately, 10-30% of ABCs are found in the spine. Such lesions are traditionally treated with curettage or other intralesional techniques. Because ABCs can be locally aggressive, intralesio...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章,多中心研究
doi:10.1007/s11060-014-1540-0
更新日期:2014-10-01 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
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journal_title:Journal of neuro-oncology
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更新日期:2016-08-01 00:00:00
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journal_title:Journal of neuro-oncology
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更新日期:2020-09-01 00:00:00
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journal_title:Journal of neuro-oncology
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journal_title:Journal of neuro-oncology
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章,评审
doi:10.1007/BF01053420
更新日期:1995-01-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-015-1986-8
更新日期:2016-02-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章
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更新日期:2017-12-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-013-1116-4
更新日期:2013-06-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-014-1421-6
更新日期:2014-05-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s11060-015-1845-7
更新日期:2015-09-01 00:00:00
abstract::The antiproliferative effect of IFNalpha was tested on the human glioblastoma cell lines, U-373MG and T98G. IFNalpha significantly inhibited the growth of both cell lines, but was more effective in retarding the growth of U-373MG cells. Flow cytometry analysis indicated that synchronized IFNalpha-treated U-373MG cells...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1023/a:1006476408190
更新日期:2000-07-01 00:00:00
abstract:PURPOSE:To compare chemotherapy treatment monitoring in astrocytoma by 201thallium single photon emission computed tomography (SPECT) and photon magnetic resonance spectroscopy (1H-MRS) with magnetic resonance imaging (MRI), and to evaluate the influence of morphological tumor changes on cerebral 201thallium uptake and...
journal_title:Journal of neuro-oncology
pub_type: 临床试验,杂志文章
doi:10.1023/a:1006429329677
更新日期:2000-01-01 00:00:00
abstract::Death ligand-mediated apoptosis is a promising strategy of gene therapy for human malignant glioma. We here report that the infection of human malignant glioma cell lines with an adenoviral vector encoding full length human Apo2 ligand/tumor necrosis factor-related apoptosis-inducing ligand (Ad-Apo2L/TRAIL) results in...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1023/a:1021248329980
更新日期:2003-01-01 00:00:00
abstract::p53 mutations are the most frequently detected genetic alterations of gliomas, appearing in a similar proportion of low and high grade astrocytomas, while the amplification of epidermal growth factor receptor (EGFR) gene appears mainly in glioblastomas. Thus, these changes seem to delineate two subgroups of high grade...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/BF01054764
更新日期:1995-10-01 00:00:00
abstract::Ionizing radiation plays a major role in the treatment of brain tumors, but side-effects may restrict the efficacy of therapy. In the present study, our goals were to establish whether the administration of L-alpha-glycerylphosphorylcholine (GPC) can moderate or prevent any of the irradiation-induced functional and mo...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-014-1489-z
更新日期:2014-09-01 00:00:00
abstract::In earlier studies, we demonstrated that intratumoral infusions of alloreactive cytotoxic T lymphocytes (aCTL), sensitized to the major histocompatibility complex (MHC) antigens of the host, effectively retarded the intracranial growth of Fischer 9L gliosarcoma. We further demonstrated that continuous in vitro exposur...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/BF02700024
更新日期:2003-08-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1023/a:1023760824739
更新日期:2003-05-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-005-9035-7
更新日期:2006-09-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 信件
doi:10.1007/s11060-005-1480-9
更新日期:2005-09-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1023/a:1005969429013
更新日期:1998-04-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章,评审
doi:10.1007/s11060-020-03535-3
更新日期:2020-10-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-019-03235-7
更新日期:2019-09-01 00:00:00
abstract::We proposed to identify the efficacy of an epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI) using whole brain radiotherapy (WBRT)/stereotactic radiosurgery (SRS)/surgery in brain metastases from patients with non-small cell lung cancer (NSCLC) and clarify the association between treatment outcom...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-014-1570-7
更新日期:2014-11-01 00:00:00
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journal_title:Journal of neuro-oncology
pub_type: 杂志文章
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更新日期:2004-12-01 00:00:00
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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::We report a case of a 2 year-old boy who initially presented with macrocephaly and severe global developmental delay. Imaging revealed a large left temporo-parietal mass that was lobulated, calcified, focally enhancing and partially cystic. A second surgery was required for tumor recurrence approximately one year late...
journal_title:Journal of neuro-oncology
pub_type: 杂志文章
doi:10.1007/s11060-007-9346-y
更新日期:2007-08-01 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
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更新日期:2008-12-01 00:00:00