Abstract：
:Meningiomas are among the most frequent intracranial tumors. The secretory variant of meningioma is characterized by glandular differentiation, formation of intracellular lumina and pseudopsammoma bodies, expression of a distinct pattern of cytokeratins and clinically by pronounced perifocal brain edema. Here we describe whole-exome sequencing analysis of DNA from 16 secretory meningiomas and corresponding constitutional tissues. All secretory meningiomas invariably harbored a mutation in both KLF4 and TRAF7. Validation in an independent cohort of 14 secretory meningiomas by Sanger sequencing or derived cleaved amplified polymorphic sequence (dCAPS) assay detected the same pattern, with KLF4 mutations observed in a total of 30/30 and TRAF7 mutations in 29/30 of these tumors. All KLF4 mutations were identical, affected codon 409 and resulted in a lysine to glutamine exchange (K409Q). KLF4 mutations were not found in 89 non-secretory meningiomas, 267 other intracranial tumors including gliomas, glioneuronal tumors, pituitary adenomas and metastases, 59 peripheral nerve sheath tumors and 52 pancreatic tumors. TRAF7 mutations were restricted to the WD40 domains. While KLF4 mutations were exclusively seen in secretory meningiomas, TRAF7 mutations were also observed in 7/89 (8 %) of non-secretory meningiomas. KLF4 and TRAF7 mutations were mutually exclusive with NF2 mutations. In conclusion, our findings suggest an essential contribution of combined KLF4 K409Q and TRAF7 mutations in the genesis of secretory meningioma and demonstrate a role for TRAF7 alterations in other non-NF2 meningiomas.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Reuss DE,Piro RM,Jones DT,Simon M,Ketter R,Kool M,Becker A,Sahm F,Pusch S,Meyer J,Hagenlocher C,Schweizer L,Capper D,Kickingereder P,Mucha J,Koelsche C,Jäger N,Santarius T,Tarpey PS,Stephens PJ,Andrew Futreal P,doi
10.1007/s00401-013-1093-xsubject
Has Abstractpub_date
2013-03-01 00:00:00pages
351-8issue
3eissn
0001-6322issn
1432-0533journal_volume
125pub_type
杂志文章abstract：:Neuropathological changes were studied in a consecutive autopsy series of 135 cases, comprising 73% of all patients who died of AIDS in Switzerland between April 1981 and December 1987. Central nervous system involvement was found in 119 patients (88%), 19 of which had multiple concomitant intracerebral lesions. Among...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00687372
更新日期：1989-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00690466
更新日期：1984-01-01 00:00:00
abstract：:Disturbance of intracellular trafficking plays a major role in several neurodegenerative disorders including Alzheimer or Parkinson's disease. The Chediak-Higashi syndrome (CHS), a life-threatening autosomal recessive disease with frequent mutations in the LYST gene, and its animal model, the beige mouse, are both cha...
journal_title：Acta neuropathologica
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doi：10.1007/s00401-006-0092-6
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010051022
更新日期：1999-05-01 00:00:00
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journal_title：Acta neuropathologica
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doi：10.1007/BF00687890
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journal_title：Acta neuropathologica
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doi：10.1007/s00401-007-0231-8
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00685251
更新日期：1984-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00684665
更新日期：1976-03-15 00:00:00
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journal_title：Acta neuropathologica
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doi：10.1007/s00401-008-0398-7
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00688050
更新日期：1986-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010050906
更新日期：1998-10-01 00:00:00
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journal_title：Acta neuropathologica
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doi：10.1007/s00401-013-1165-y
更新日期：2013-10-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010050950
更新日期：1999-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00294258
更新日期：1995-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-010-0642-9
更新日期：2010-05-01 00:00:00
abstract：:A desmoplastic primary cerebral neuroblastoma originating in the frontal lobe of a boy who died at the age of 6 years contained dense core vesicles within the cytoplasm of neoplastic cells as evidence of neuronal differentiation. Sarcomatous transformation had occurred at the time of recurrence. At autopsy, he also ha...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00688540
更新日期：1980-01-01 00:00:00
abstract：:This article highlights the features that connect prion diseases with other cerebral amyloidoses and how these relate to neurodegeneration, with focus on tau phosphorylation. It also discusses similarities between prion disease and Alzheimer's disease: mechanisms of amyloid formation, neurotoxicity, pathways involved ...
journal_title：Acta neuropathologica
pub_type： 杂志文章,评审
doi：10.1007/s00401-010-0691-0
更新日期：2011-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00688393
更新日期：1975-12-19 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章,评审
doi：10.1007/s004010050604
更新日期：1997-02-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010050445
更新日期：1996-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00687254
更新日期：1989-01-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00696567
更新日期：1975-08-27 00:00:00
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journal_title：Acta neuropathologica
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doi：10.1007/s00401-006-0047-y
更新日期：2006-06-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
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更新日期：2015-03-01 00:00:00
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journal_title：Acta neuropathologica
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更新日期：1999-10-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-006-0031-6
更新日期：2006-03-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-015-1406-3
更新日期：2015-05-01 00:00:00
abstract：:In comparison to the levels in age and gender-matched controls, reduced levels of pathological amyloid-β protein in cerebrospinal fluid routinely precede the onset of Alzheimer's disease-related symptoms by several years, whereas elevated soluble abnormal tau fractions (phosphorylated tau, total tau protein) in cerebr...
journal_title：Acta neuropathologica
pub_type： 杂志文章,评审
doi：10.1007/s00401-013-1139-0
更新日期：2013-11-01 00:00:00
abstract：:Pregnant rats were administered a liquid diet containing 5% (w/v) ethanol between gestational days 10 and 21, and the brains of nine offspring were examined at 8 weeks of age. Two ethanol-treated offspring showed obvious hydrocephalus characterized by markedly enlarged lateral ventricles. Most of the other ethanol-tre...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-004-0901-8
更新日期：2004-11-01 00:00:00
abstract：:Alpha-synuclein is known to play an important role in several neurodegenerative diseases. Moreover, it is expressed in central nervous system neuronal tumors, and another member of the synuclein family, gamma-synuclein, is overexpressed in breast and ovarian carcinomas. However, the expression of alpha-synuclein has n...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010100443
更新日期：2002-02-01 00:00:00
