Abstract:
:Medulloblastoma (MB) represents approximately 4% of adult brain tumours, and as such is a poorly studied disease. Although many adult MB are treated using paediatric MB protocols, the reported outcomes are inferior to those observed in children. It remains unclear whether biologic differences underlie these clinical observations. We investigated the molecular characteristics of 31 adult MB. Twelve and 19 adult MB were respectively examined using Affymetrix-HG-U133-plus-2.0-genechips and immunohistochemical analyses. 26/31 (84%) of adult MB examined by gene expression and/or immunohistochemical analysis showed evidence of sonic hedgehog (SHH) pathway activation. A comparison of adult and paediatric MB showed that most adult tumours cluster within the SHH-active subgroup of paediatric MB. The preponderance of SHH activity in adult MB tumours was also shown by positive SFRP1 immunostaining in 16/19 adult paraffin-embedded adult MB tumour blocks. A smaller proportion of adult tumours exhibited evidence of WNT pathway activation, as confirmed by nuclear β-catenin staining (9.7%; 3/31). Notably, we found PTCH1 gene mutation in 4/8 samples tested. Similar to children, adult MB has abnormalities in developmental signalling pathways including SHH and WNT. Importantly, we found a preponderance of SHH pathway activation amongst MB tumours in adults. This SHH signature does not appear to correlate with a long-term favourable outcome. Differences in molecular profiles exist between adult and paediatric SHH-driven MB and further investigations are needed to better characterize age-related molecular profiles in this subgroup.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Al-Halabi H,Nantel A,Klekner A,Guiot MC,Albrecht S,Hauser P,Garami M,Bognar L,Kavan P,Gerges N,Shirinian M,Roberge D,Muanza T,Jabado Ndoi
10.1007/s00401-010-0780-0subject
Has Abstractpub_date
2011-02-01 00:00:00pages
229-39issue
2eissn
0001-6322issn
1432-0533journal_volume
121pub_type
杂志文章abstract::A case history illustrating the potential clinical significance of subependymoma is presented. Fine structural studies indicate that the tumor is composed of cells having the cytoplasmic features of ependyma, astrocytes, and transitional cells. Its composition and structure are alike those in the adult mammalian subep...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691968
更新日期:1977-11-28 00:00:00
abstract::Intracellular filamentous tau pathology is the defining feature of tauopathies, which form a subset of neurodegenerative diseases. We have analyzed pathological tau in Alzheimer's disease, and in frontotemporal lobar degeneration associated with tauopathy to include cases with Pick bodies, corticobasal degeneration, p...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-015-1503-3
更新日期:2016-02-01 00:00:00
abstract::Ectopic neurons have been detected in the hippocampus of postnatal hooded rats aged 5-24 days. These rats were exposed to methylazoxymethanol acetate (MAMac) during foetal development by injecting the mother rats with this neurotoxin. At birth, the hippocampus of rats exposed to MAMac showed a normal cytoarchitecture;...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688698
更新日期:1977-10-10 00:00:00
abstract::A 50-year-old carpenter died in Western Pennsylvania of rabies on January 4, 1979. He had been hospitalized in an intensive care unit for 28 days. The diagnosis was made postmortem from light and electron microscopic examination of central nervous system tissue. Immunofluorescence studies confirmed the diagnosis later...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687393
更新日期:1980-01-01 00:00:00
abstract::The selective toxicity of silica dust for macrophages has been used to assess the role of these cells in experimental allergic neuritis (EAN). Inbred Lewis rats were inoculated with bovine dorsal roots in Freund's complete adjuvant (day 0). In two experiments, animals received 200 mg of silica dust in 1 cm3 of saline ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687614
更新日期:1984-01-01 00:00:00
abstract::Muscle fiber abnormalities are described in three cases of neonatal maple syrup disease. There were important variations in fiber diameters. Lesions consisted in focal or diffuse destruction of myofibrils. In view of recent biochemical and clinical data, a direct relation between elevated branched-chain amino acid lev...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00685251
更新日期:1984-01-01 00:00:00
abstract::Intracranial cartilaginous tumors are rare lesions, usually arising from the skull base in older individuals. We report the case of a 12-year-old girl with a low-grade type chondrosarcoma arising from the falx cerebri. To our knowledge this is the first such case reported in a child. She was treated with gross total s...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050773
更新日期:1998-01-01 00:00:00
abstract::Apoptosis of neurons and glial cells has been shown to occur in the brain of patients with the acquired immune deficiency syndrome (AIDS) and was postulated as contributing to brain atrophy and white matter damage in these patients. Since apoptotic events may be induced by the Fas-Fas ligand (FasL) system, we analyzed...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010051094
更新日期:1999-10-01 00:00:00
abstract::Involvement of the choroid plexus by lymphoma (Hodgkin) is a hitherto undescribed complication. We report herein the case of a 49-year-old man who developed, shortly before death, neurologic symptoms seemingly related to extensive involvement of choroid plexus and surrounding ventricular structures by lymphoma (Hodgki...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00692063
更新日期:1977-02-28 00:00:00
abstract::In the present work the effect of Piromen is studied on the formation of the glial-mesenchymal scar in the experimentally injuried cortex of hamsters. The uniform effect of the bacterial polysaccharide is suggested in a strong and lasting stimulation of proliferating reactive cells in the traumatic area. The excessive...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00684561
更新日期:1975-01-01 00:00:00
abstract::Round granulated body (RGB) and eosinophilic hyaline droplets (EHDs) have been described as cytoplasmic inclusions of certain astrocytic tumors. In the previous literature, however, these inclusions have been described using various terms or regarded as nosologically the same entity. Light microscopically, RGB appeare...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00296486
更新日期:1994-01-01 00:00:00
abstract::In almost all of the earlier reported cases of Kufs' disease, the adult form of ceroid lipofuscinosis, the diagnosis was ascertained by cerebral tissue examination, while peripheral biopsy examination revealed an apparent poor diffusion of specific lipofuscinic deposits, the finger print profiles (FPs). We report the ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050866
更新日期:1998-07-01 00:00:00
abstract::Equine grass sickness (EGS) is an acquired disease of unknown aetiology affecting horses kept at grass. The disease is characterised by postganglionic sympathetic and parasympathetic neuronal pathology and is categorised as a dysautonomia. This study undertook a systematic examination of brain stem cranial nerve nucle...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010000289
更新日期:2001-08-01 00:00:00
abstract::Frontotemporal dementia (FTD) is a prevalent neurodegenerative disease of heterogeneous histopathology. Neuropathological subtypes are identified on the basis of the presence or absence of tau- or ubiquitin-positive neuronal inclusions. Our recent work has established four disease stages that are independent of neurop...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-004-0917-0
更新日期:2004-12-01 00:00:00
abstract::The pro-inflammatory and blood-brain barrier (BBB) effects of intratumoral (IT) injection of human recombinant tumor necrosis factor-alpha (rTNF-alpha) were studied in the Fischer rat RT-2 glioma model. Animals received a single stereotaxic injection of either 6 x 10(4) U rTNF-alpha or excipient (vehicle) into the cen...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/pl00007398
更新日期:1997-01-01 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::Virtually all phases of spinal cord injury pathogenesis, including inflammation, cell proliferation and differentiation, as well as tissue remodeling, are mediated in part by infiltrating monocyte-derived macrophages. It is now clear that these infiltrating macrophages have distinct functions from resident microglia a...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-019-01992-3
更新日期:2019-05-01 00:00:00
abstract::The finding of novel fibroblastic onion bulb-like structures in peripheral nerves is reported for the first time in avian riboflavin deficiency. Day old broiler meat chickens were fed a riboflavin deficient diet (1.8 mg/kg) and were killed on postnatal days 6, 11, 16, 21 and 31, whereas control chickens were fed a con...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-007-0215-8
更新日期:2007-08-01 00:00:00
abstract::In amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), spinal and lower brainstem motor neurons degenerate, but some motor neuron subtypes are spared, including oculomotor neurons (OMNs). The mechanisms responsible for this selective degeneration are largely unknown, but the molecular signatures of ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-020-02133-x
更新日期:2020-05-01 00:00:00
abstract::With an incidence of approximately 350 in 100,000, stroke is the third leading cause of death and a major cause of disability in industrialized countries. At present, although progress has been made in understanding the molecular pathways that lead to ischemic cell death, the current clinical treatments remain poorly ...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-009-0496-1
更新日期:2009-05-01 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::Low-grade neuroepithelial tumors (LGNTs) are diverse CNS tumors presenting in children and young adults, often with a history of epilepsy. While the genetic profiles of common LGNTs, such as the pilocytic astrocytoma and 'adult-type' diffuse gliomas, are largely established, those of uncommon LGNTs remain to be define...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-016-1539-z
更新日期:2016-06-01 00:00:00
abstract::The mechanism of inflammatory demyelination in canine distemper encephalitis (CDE) is uncertain but macrophages are thought to play an important effector role in this lesion. Serum and cerebrospinal fluid (CSF), containing anti-canine distemper virus and anti-myelin antibodies from dogs with CDE were tested for their ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688176
更新日期:1989-01-01 00:00:00
abstract::Abnormal TDP-43 aggregation is a prominent feature in the neuropathology of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. Mutations in TARDBP, the gene encoding TDP-43, cause some cases of ALS. The normal function of TDP-43 remains incompletely understood. To better understand TDP-43 biolo...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-010-0659-0
更新日期:2010-04-01 00:00:00
abstract::Medulloblastoma comprises four distinct molecular variants with distinct genetics, transcriptomes, and outcomes. Subgroup affiliation has been previously shown to remain stable at the time of recurrence, which likely reflects their distinct cells of origin. However, a therapeutically relevant question that remains una...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-015-1389-0
更新日期:2015-03-01 00:00:00
abstract::To determine the role of advanced glycation endproducts (AGE) in the pathogenesis of familial amyotrophic lateral sclerosis (ALS) with superoxide dismutase-1 (SOD1) mutation, we investigated the immunohistochemical localization of N(epsilon)-carboxymethyl-lysine (CML), one of the major AGE structures, in spinal cords ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050980
更新日期:1999-03-01 00:00:00
abstract::This report deals with the expression of stress-response (heat-shock) protein 72 (srp 72) in a series of 95 primary human brain tumors and 21 carcinoma metastases to the central nervous system (CNS). Immunohistochemical procedures were employed; cells of the human cervical cancer line HeLa S3 were used as positive con...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00227818
更新日期:1992-01-01 00:00:00
abstract::Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort of 1,808 patients with frontotemporal lobar degeneration (FTLD),...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-014-1298-7
更新日期:2014-09-01 00:00:00
abstract::Endoneurial cell response and type of nerve fibre damage were studied after perineural injections of 7% phenol-aqua and pure glycerol. Our previous studies have shown that phenol and glycerol induce different types of nerve fibre degeneration after intraneural injections: phenol dissolves axons and Schwann cells insid...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-004-0896-1
更新日期:2004-10-01 00:00:00
abstract::Neurological signs were observed in 3 lambs at approximately 1 month of age, in a flock of 1 ram and 29 ewes with 43 lambs. Deterioration occurred such that the lambs had either died or been killed by 4 months of age. Necropsies of two of these lambs revealed a diffuse encephalopathy in which the most prominent featur...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00309632
更新日期:1995-01-01 00:00:00