Abstract:
:Separation of pilocytic astrocytoma from diffuse astrocytomas frequently poses problems mostly related to small sample size. Precise classification and grading are essential due to different therapeutic strategies prompted by diagnoses of pilocytic astrocytoma WHO grade I, diffuse astrocytomas WHO grade II or anaplastic astrocytoma WHO grade III. Recently, genomic aberrations with a high specificity for distinct glioma entities have been described. Pilocytic astrocytomas carry a duplication at chromosome band 7q34 containing a BRAF-KIAA1549 gene fusion in the majority of cases. IDH1 mutations are observed very frequently in adult astrocytomas and IDH2 mutations have been reported in some astrocytomas. We examined a series of 120 astrocytomas including 70 pilocytic astrocytomas WHO grade I and 50 diffuse astrocytomas WHO grade II for both, BRAF-KIAA1549 fusion with a newly developed FISH assay and mutations in IDH1 and IDH2 by direct sequencing. Pilocytic astrocytomas contained the BRAF fusion in 49 cases (70%) but neither IDH1 nor IDH2 mutations. Astrocytomas WHO grade II exhibited IDH1 mutations in 38 cases (76%) but neither IDH2 mutations nor BRAF fusions. Thus, combined molecular analysis of BRAF and IDH1 is a sensitive and highly specific approach to separate pilocytic astrocytoma from diffuse astrocytoma.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Korshunov A,Meyer J,Capper D,Christians A,Remke M,Witt H,Pfister S,von Deimling A,Hartmann Cdoi
10.1007/s00401-009-0550-zsubject
Has Abstractpub_date
2009-09-01 00:00:00pages
401-5issue
3eissn
0001-6322issn
1432-0533journal_volume
118pub_type
杂志文章abstract::The neuropathologic findings in the brain of a National Aeronautics and Space Administration (NASA) engineer, who died subsequent to nitrogen inhalation, are reported. Findings which are unusual in other forms of anoxia included relative preservation of neurons in the Sommer sector of the hippocampus and a pattern of ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688632
更新日期:1985-01-01 00:00:00
abstract::The nuclei for the nerves of a dorsal (m. splenius) and a ventral (m. longus capitis) neck muscle of the rat were retrogradely labeled by applying horseradish peroxidase (HRP) to the respective cut muscle nerves. Motoneurons of both muscles were analyzed for their localization, diameter of perikarya, and area of dendr...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690368
更新日期:1981-01-01 00:00:00
abstract::A woman of 36 was admitted to hospital because of griping abdominal pain which occurred especially during the night when turning in bed. She had a history of constipation and bloating since birth. Irrigoscopy revealed megacolon extending from the middle of the transverse colon to the rectum. A rectal biopsy excluded H...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688193
更新日期:1987-01-01 00:00:00
abstract::Three cases of spontaneous olfactory neuroblastoma (ONB) in domestic cats were morphologically and immunocytochemically characterized. Diagnostic light microscopic features included Flexner and Homer-Wright rosettes, while ultrastructurally the cells had neuritic processes, intracellular intermediate filaments, and in...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00294617
更新日期:1990-01-01 00:00:00
abstract::The hemizygote of the macular mutant mice, which is clinically and neuropathologically considered to be a model of Menkes kinky hair disease (MKHD), were injected intraperitoneally four times with 10, 20, 20 and 30 micrograms of cupric chloride on days 4, 6, 8 and 10 after birth, respectively. Their cerebral and cereb...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00689595
更新日期:1988-01-01 00:00:00
abstract::Transient forebrain ischemia produces a spatially and temporally selective pattern of neuronal degeneration in the hippocampal formation of the Mongolian gerbil. Ischemic neuronal death has been suggested to depend on the activation of excitatory hippocampal pathways that project to the vulnerable neurons. This idea w...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687758
更新日期:1989-01-01 00:00:00
abstract::Accumulation of mitochondrial DNA (mtDNA) deletions has been proposed to be responsible for the presence of respiratory-deficient neurons in several CNS diseases. Deletions are thought to originate from double-strand breaks due to attack of reactive oxygen species (ROS) of putative inflammatory origin. In epileptogene...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-016-1561-1
更新日期:2016-08-01 00:00:00
abstract::We have obtained a cDNA fragment to human glial fibrillary acidic protein (GFAP) by immunoscreening a lambda gt11 human brain cDNA library with antibody to bovine GFAP. The highly homologous nucleotide sequence of this clone with that of the mouse GFAP enabled the identification of this cDNA as one encoding GFAP. As t...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687396
更新日期:1989-01-01 00:00:00
abstract::Neurofibromas represent one of the hallmarks of neurofibromatosis 1 (NF1) patients. Tumor progression of neurofibromas to malignant peripheral nerve sheath tumors (MPNST) is a frequent and life threatening complication. To learn more about processes involved in malignant transformation, we evaluated differential gene ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-003-0797-8
更新日期:2004-02-01 00:00:00
abstract::A simple and reproducible method for cryopreservation of brain tissue from patients with Alzheimer's disease is described. Fresh brain slices (1 cm thick) obtained less than 6 h postmortem are placed in sealed plastic bags, sandwiched between 0.3-cm-thick aluminium sheets, and frozen by placing the entire "sandwich" b...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00294305
更新日期:1993-01-01 00:00:00
abstract::Axons of the peripheral nervous system (PNS) are reduced in caliber in response to the experimental diabetic state. The cause of this reduced axonal size is disputed. Various theories include (a) axonal dwindling, (b) inhibition of growth, and (c) shrinkage due to serum hyperosmolarity. This study was designed to dire...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688637
更新日期:1985-01-01 00:00:00
abstract::A patient with mixed gonadal dysgenesis showed glove and stocking-type sensory impairment and slowing of motor and sensory nerve conduction. Sural nerve biopsy revealed minifascicular formation with decreased density of myelinated fibers. As far as we are aware, this is the first report of polyneuropathy with minifasc...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010051085
更新日期:1999-09-01 00:00:00
abstract::Charcot-Marie-Tooth disease type 1 B (CMT1B) is a demyelinating neuropathy caused by mutations in the myelin protein zero (P0) gene (MPZ). A few cases of CMT1B were recently found to be characterized by focally folded myelin sheaths in nerve biopsy specimens; the significance of this association is unknown. Here, we d...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004019900175
更新日期:2000-09-01 00:00:00
abstract::X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic disease characterized by the accumulation of very long chain fatty acids (VLCFAs) due to a loss of function of the peroxisomal transporter ABCD1. Here, using in vivo and in vitro models, we demonstrate that autophagic flux was impaired due to elevated mamm...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-014-1378-8
更新日期:2015-03-01 00:00:00
abstract::In 2011, genome-wide association studies implicated a polymorphism near CD33 as a genetic risk factor for Alzheimer's disease. This finding sparked interest in this member of the sialic acid-binding immunoglobulin-type lectin family which is linked to innate immunity. Subsequent studies found that CD33 is expressed in...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-019-02000-4
更新日期:2019-08-01 00:00:00
abstract::Investigations of the existence and distribution of muscle spindles and tendon organs in the human voluntary anal sphincter muscle in 53 cases of autopsy material from both female and male persons (age: 27th week of gestation to 81 years) brought forward the following results: Similar to animals, muscle spindles are f...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691860
更新日期:1984-01-01 00:00:00
abstract::The central distal axonopathy induced in dogs by the administration of high doses of clioquinol is contrasted with the central-peripheral distal axonopathy precipitated by intoxication with 2,5-hexanedione. Mature, pure-bred Beagle dogs received a daily oral dose of 400 mg/kg of clioquinol for up to 7 months, or 1 ml ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690549
更新日期:1979-08-01 00:00:00
abstract::To investigate the pathogenetic role of human T lymphocyte virus type I (HTLV-I) in central nervous system disease, a rat model for HTLV-I-associated myelopathy/tropical spastic paraparesis, designated as HAM rat disease, has been established. Wistar-King-Aptekman-Hokudai strain rats with induced HTLV-I infection deve...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050962
更新日期:1999-02-01 00:00:00
abstract::In hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle, the largest number of acidophilic intracytoplasmic inclusions was found in the myocardium. These inclusions, which were oval and measured 12-15 microm in the transverse sections, were characterized by a dense, amorphous zone, and a relati...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050972
更新日期:1999-02-01 00:00:00
abstract::A Schwann cell can form only one internode of myelin around an axon. However, we observed the formation by a single Schwann cell of myelin around two axons of different diameters in the sural nerve of a 45-year-old man with mononeuritis multiplex. Schwann cell processes spiraled in the same direction around each axon,...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00304478
更新日期:1992-01-01 00:00:00
abstract::The fine structure of an intracerebellar "fibroma" has been examined. The tumor consists of irregularly-shaped cells connected by well developed junctional complexes. Unusual, fenestrated capillaries with extremely narrow and irregular lumens are frequent. Collagen fibers are not common but the wide extracellular spac...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00696567
更新日期:1975-08-27 00:00:00
abstract::Sera from guinea pigs with acute or chronic relapsing experimental allergic encephalomyelitis (EAE) were injected into lumbosacral subarachnoid space of normal recipient rats. Seventeen of 37 sera induced demyelination in the CNS, and 27 of 37 sera caused demyelinated peripheral nerve fibers in the roots. The highest ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690994
更新日期:1981-01-01 00:00:00
abstract::Six medulloblastomas were studied by electron microscopy. Two features were found which seem to be constant and essential characteristics of medulloblastoma. First, cell junctions are abundant between tumor cells. These are mostly desmosome-like but other, closer junctions, were also seen. Second, the capillary endoth...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00685966
更新日期:1975-10-27 00:00:00
abstract::When 22 members of the BrainNet Europe (BNE) consortium assessed 31 cases with alpha-synuclein (alphaS) immunoreactive (IR) pathology applying the consensus protocol described by McKeith and colleagues in 2005, the inter-observer agreement was 80%, being lowest in the limbic category (73%). When applying the staging p...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-009-0523-2
更新日期:2009-06-01 00:00:00
abstract::We have studied microtubule-associated protein 2 (MAP2) expression in anterior horn neurons in the cervical and lumbar spinal cords of 19 cases of adult-onset sporadic amyotrophic lateral sclerosis (ALS) using immunohistochemistry. Specimens from 7 patients without neurological disease served as controls. MAP2 express...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050950
更新日期:1999-01-01 00:00:00
abstract::The endothelial cells of three cases of cerebellar capillary hemangioblastoma were studied by means of electron microscopy. Crystalloid bodies, not previously described in the vessels of the central nervous system (CNS), were found in 5%-10% of the endothelial cells, more often in the capillaries with small irregular ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688686
更新日期:1985-01-01 00:00:00
abstract::The nature and distribution of vascular changes in acute Wernicke's encephalopathy (WE) were analyzed in three autopsy cases. Lesions of the lateral vestibular nucleus of the medulla oblongata (three cases) and lateral ventricular wall (one case) were examined by reconstruction of 200 serial sections, and the capillar...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00307646
更新日期:1995-01-01 00:00:00
abstract::Histological, ultrastructural and morphometrical observations on Clarke's column were carried out in 18 patients with sporadic amyotrophic lateral sclerosis (ALS) and 15 age-matched control subjects. Of the 18 ALS patients 6 had been on a respirator before death. Bunina bodies were found in the neuronal cytoplasm in 7...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00304464
更新日期:1992-01-01 00:00:00
abstract::SNAP-25 (a synaptosomal-associated protein of 25 kDa) has been shown to be involved both in synaptic vesicle exocytosis and in axonal outgrowth. In the present study, we investigated the changes in SNAP-25 immunoreactivity in the hippocampus of the Mongolian gerbil (Meriones unguiculatus) at different time points afte...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050795
更新日期:1998-03-01 00:00:00
abstract::The left and right recurrent laryngeal nerves and peroneal nerves from two groups of foals, one less than 1 month of age and the other 6 months of age, were examined by light and electron microscopy. While there was no evidence of fiber loss on light microscopy, occasional onion bulbs, regenerating clusters and swolle...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00227825
更新日期:1992-01-01 00:00:00