1.Recent advance in tuberous sclerosis-related genes and their expression.
Jing LIU ; Yue-shan PIAO ; De-hong LU
Chinese Journal of Pathology 2010;39(3):210-212
Adenocarcinoma
;
genetics
;
metabolism
;
Angiomyolipoma
;
etiology
;
Antibiotics, Antineoplastic
;
therapeutic use
;
Astrocytoma
;
etiology
;
Brain Neoplasms
;
etiology
;
Breast Neoplasms
;
genetics
;
metabolism
;
Gene Expression Regulation, Neoplastic
;
Genes, Tumor Suppressor
;
Humans
;
Kidney Neoplasms
;
etiology
;
Lung Neoplasms
;
genetics
;
metabolism
;
Mutation
;
Sirolimus
;
therapeutic use
;
TOR Serine-Threonine Kinases
;
antagonists & inhibitors
;
metabolism
;
Tuberous Sclerosis
;
complications
;
drug therapy
;
genetics
;
metabolism
;
Tumor Suppressor Proteins
;
genetics
;
metabolism
2.Progress of molecular pathology in pediatric brain tumor.
Ya-jie WANG ; Yue-shan PIAO ; De-hong LU
Chinese Journal of Pathology 2011;40(3):206-208
Astrocytoma
;
genetics
;
metabolism
;
pathology
;
Brain Neoplasms
;
classification
;
genetics
;
metabolism
;
pathology
;
Child
;
Child, Preschool
;
Chromosomal Proteins, Non-Histone
;
genetics
;
metabolism
;
Chromosome Deletion
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Cyclin-Dependent Kinase Inhibitor p16
;
genetics
;
metabolism
;
DNA-Binding Proteins
;
genetics
;
metabolism
;
Ependymoma
;
genetics
;
metabolism
;
pathology
;
Hedgehog Proteins
;
genetics
;
metabolism
;
Humans
;
Medulloblastoma
;
classification
;
genetics
;
metabolism
;
pathology
;
Proto-Oncogene Proteins B-raf
;
genetics
;
metabolism
;
Rhabdoid Tumor
;
genetics
;
metabolism
;
pathology
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SMARCB1 Protein
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Signal Transduction
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Transcription Factors
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genetics
;
metabolism
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Wnt Proteins
;
metabolism
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beta Catenin
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genetics
;
metabolism
3.Emphasis on neuropathologic study of intractable epilepsy.
De-hong LU ; Li CHEN ; Yue-shan PIAO
Chinese Journal of Pathology 2007;36(3):147-149
Angiomatosis
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complications
;
pathology
;
Brain
;
blood supply
;
Brain Diseases
;
complications
;
pathology
;
Brain Neoplasms
;
complications
;
pathology
;
Epilepsy
;
etiology
;
pathology
;
surgery
;
Ganglioglioma
;
complications
;
pathology
;
Humans
;
Malformations of Cortical Development
;
classification
;
complications
;
pathology
;
Meninges
;
blood supply
5.Quantification and distribution of white matter neurons in the temporal lobe of normal individuals
Yong-Juan FU ; Yue-Shan PIAO ; Li CHEN ; Li-Feng WEI ; De-Hong LU ;
Chinese Journal of Neurology 2000;0(05):-
Objective To quantify the neurons in the temporal lobe white matter and find their distribution in the neurologically normal individuals.Methods The temporal lobe at the level of exterior geniculata body from brain autopsy samples of 14 neurologically normal individuals were made into large slice followed by quantitative analysis of neuron density,cell density,ratio and diameter of the neuronal nuclear and the distribution of white matter neurons using two-dimensional cell counting methods.Results With the depth of the white matter of the temporal lobe increasing,the neuron density decreased from 29.26 neurons/ mm~2 to 7.32 neurons/mm~2 and 0.00 neurons/mm~2,respectively;the cell density,neuron ratio and diameter of the neuronal nuclei all decreased.Conclusion There are neurons in the temporal lobe white matter of neurologically normal individuals,whose distribution of neurons is related to the depth of white matter.
6.Diagnostic use of D2-40 and annexin-1 in ependymal tumors.
Yue-feng WANG ; Yue-shan PIAO ; De-hong LU ; Li CHEN ; Wei WANG ; Hong YANG ; Li-feng WEI
Chinese Journal of Pathology 2011;40(9):595-598
OBJECTIVETo investigate the diagnostic significance of D2-40 and annexin-1 in the ependymal tumors.
METHODSTo analyses the expression of D2-40, annexin-1, EMA and Ki-67 by immunohistochemistry in 52 cases of ependymal tumors (48 cases of ependymomas, 4 cases of choroid plexus papilloma) from Xuanwu Hospital from 2005 to 2009. Ten cases of corresponding normal brain tissue were also obtained as control.
RESULTSThirty-two of forty-eight (66.7%) cases of ependymomas were positive for D2-40. "Dot-like" and "ring-like" structures were commonly observed in ependymomas (55.3%, 21 of 38 cases) and anaplastic ependymomas (5 of 6 cases) with D2-40 staining. There was no difference in the expression between D2-40 and Ki-67 (r(s) = -0.013, P = 0.931). For annexin-1, 87.5% (42 of 48 cases) of the ependymomas were positive. The specific "granular structures" and cilium were observed in ependymomas (1 of 4 cases of myxopapillary ependymomas and 11 of 38 cases of ependymomas respectively) for annexin-1. The difference in expression between annexin-1 and Ki-67 was statistically significant (r(s) = -0.405, P = 0.005). D2-40 in combination of EMA and annexin-1 increased the positive rate to 100% in ependymomas. Choroid plexus papillomas were all positive for D2-40 and annexin-1. The control tissue was negative for D2-40 but positive for annexin-1 in the capillaries.
CONCLUSIONSThe specific structures are valuable in diagnosing of ependymal-genetic tumors, and are highlighted by D2-40 and annexin-1. D2-40 in combination of EMA and annexin-1 is a useful diagnostic marker for ependymal tumors.
Adolescent ; Adult ; Annexin A1 ; metabolism ; Biomarkers, Tumor ; metabolism ; Brain Neoplasms ; diagnosis ; metabolism ; pathology ; Child ; Child, Preschool ; Ependymoma ; diagnosis ; metabolism ; pathology ; Female ; Humans ; Immunohistochemistry ; Ki-67 Antigen ; metabolism ; Male ; Membrane Glycoproteins ; metabolism ; Middle Aged ; Mucin-1 ; metabolism ; Papilloma, Choroid Plexus ; diagnosis ; metabolism ; pathology ; Young Adult
7.Expression and diagnostic significance of CD34 in brain tumors of patients with refractory epilepsy.
Jing LIU ; De-hong LU ; Yue-shan PIAO ; Wei WANG ; Li CHEN ; Li-feng WEI ; Hong YANG
Chinese Journal of Pathology 2010;39(3):151-155
OBJECTIVETo study the immunohistochemical expression and diagnostic significance of CD34 in brain tumors of patients with refractory epilepsy.
METHODSImmunohistochemical study for CD34 was performed on formalin-fixed paraffin-embedded tissue blocks of 54 cases of brain tumors occurring in patients with refractory epilepsy. The tumor types included ganglioglioma (GG, number = 21), dysembryoplastic neuroepithelial tumor (DNT, number = 8), tumors/lesions which had the transitional features that between glioneuronal hamartia and mixed neuronal-glial tumor (number = 21) and pleomorphic xanthoastrocytoma (PXA, number = 4). Cases of glioblastoma (number = 4) and oligoastrocytoma (number = 5) were used as controls.
RESULTSTwenty of the 21 cases of GG, 1 of the 8 cases of DNT, 16 of the 21 cases of tumors/lesions which had the transitional features and 3 of the 4 cases of PXA showed cytoplasmic and membranous positivity for CD34. The adjoining brain tissues in 9 of the 18 cases of GG, 6 of the 16 cases of tumors/lesions which had the transitional features and 1 of the 3 cases of PXA also expressed CD34. In contrast, only 1 case of glioblastoma showed membranous positivity for CD34.
CONCLUSIONSCD34 preferred to staining for GG and PXA. Which represent a valuable tool for distinguishing GG, PXA and DNT, oligoastrocytoma, glioblastoma.
Antigens, CD34 ; metabolism ; Astrocytoma ; complications ; metabolism ; pathology ; surgery ; Brain Neoplasms ; complications ; metabolism ; pathology ; surgery ; Diagnosis, Differential ; Epilepsy ; etiology ; Ganglioglioma ; complications ; metabolism ; pathology ; surgery ; Glioblastoma ; complications ; metabolism ; pathology ; Humans ; Neoplasms, Neuroepithelial ; complications ; metabolism ; pathology ; surgery
8.A Chinese genetic prion disease:clinical,pathological manifestation and prion protein gene mutation analysis
Jing YE ; Zheng LIU ; Yue-Shan PIAO ; De-Hong LU ; Cun-Jiang LI ; Jian-Ping JIA ; Geng XU ; Yan-Fei CHEN ; Xiu-Min DONG ;
Chinese Journal of Neurology 2005;0(11):-
Objective To report a large family with an autosomal dominant dementia associated with mutation in the prion protein gene(PRNP)and the detailed clinical,neuroimaging and pathological manifestations.Methods Two patients from a large family of dementia were admitted to our ward and the data of their medical history,physical examination,video electroenceplialogram,neuroimaging were colleted.A sterotactic biopsy of the right frontal lobe of the proband was done.After the informed consent from the family members obtained,the genomic DNA was extracted from peripheral blood leucocytes of 5 persons followed by in,vitro amplification using polymerase chain reaction(PCR).The PCR products were directly sequenced by Sanger method.PRNP gene sequence was also examined in 150 normal Chinese to exclude single nueleotide polymorphism.Results A missense mutation of PRNP gene in 5 farnily members was detected,resulting in Gll4V mutation in the prion protein,with M/M genotype of eodon 129.This mutation was not detected in 150 normal Chinese.The proband was diagnosed as inherited prion disease by her clinical features,including neuropsychiatrie disturbances and progressive dementia,and manifestations of neuroimaging,EEG,neuropathology and PRNP gene mutation.Conclusion The first autosomal dominant pedigree of family prion disease is found in China with G114V mutation in PRNP gene which may lead to the prion disease directly.
9.Expression of drug resistance-associated proteins in brain of patients with refractory epilepsy.
Wei WANG ; Yue-Shan PIAO ; Lei LIU ; Li CHEN ; Li-Feng WEI ; Hong YANG ; De-Hong LU
Chinese Journal of Pathology 2008;37(1):21-26
OBJECTIVETo study the expression of P-glycoprotein, multi-drug resistance associated protein and major vault protein in pathologic brain specimens, and to investigate their roles in the pathogenesis of refractory epilepsy.
METHODSImmunohistochemical study was performed in pathology specimens from 18 cases of refractory epilepsy (including 5 cases of focal cortical dysplasia, 3 cases of tuberous sclerosis, 5 cases of ganglioglioma and 5 cases of dysembryoplastic neuroepithelial tumor).
RESULTSBoth the P-glycoprotein and major vault protein were localized in microvascular endothelium of the lesions. Major vault protein was also seen in balloon cells and some neuronal cells. On the other hand, multi-drug resistance associated protein was mainly localized in the neuronal component of the lesions. In general, the expression of P-glycoprotein and major vault protein in tumoral tissue was higher than that in non-tumoral tissue. The expression of multi-drug resistance associated protein and major vault protein was also different in the neoplastic glial cells of ganglioglioma and dysembryoplastic neuroepithelial tumor.
CONCLUSIONSP-glycoprotein, multi-drug resistance associated protein and major vault protein contribute to the pathogenesis of refractory epilepsy. They may however have different roles, with different cellular localization.
ATP-Binding Cassette, Sub-Family B, Member 1 ; analysis ; Adolescent ; Adult ; Brain ; metabolism ; Brain Neoplasms ; chemistry ; Child ; Drug Resistance, Multiple ; Epilepsy ; drug therapy ; genetics ; metabolism ; Female ; Ganglioglioma ; genetics ; metabolism ; Humans ; Male ; Malformations of Cortical Development ; genetics ; metabolism ; Multidrug Resistance-Associated Proteins ; genetics ; metabolism ; pharmacology ; Tuberous Sclerosis ; metabolism ; Young Adult
10.Research on distribution and expression of NMDA receptors and parvalbumin-positive neurons in intractable epilepsy-related focal cortical dysplasia.
Lei LIU ; Yue-Shan PIAO ; Wei WANG ; Li CHEN ; Li-Feng WEI ; Hong YANG ; De-Hong LU
Chinese Journal of Pathology 2008;37(1):16-20
OBJECTIVETo evaluate the alteration of subunits composition in NMDA receptor and the alterations of the expression and distribution of NMDA receptors and parvalbumin (PV)-positive neurons in focal cortical dysplasia (FCD) cortices.
METHODSTwenty cases of FCD samples (including all four subtypes of FCD) obtained during epilepsy surgery and 4 controls were analysed by immunohistochemical staining for NR1, NR2A/B and PV.
RESULTSIncreased expression of NR1 was detected in the giant neurons and dysmorphic neurons in FCD; while pronounced expression of NR2A/B was detected in immature neurons, giant neurons and dysmorphic neurons of FCD, especially in somata and processes of the immature neurons. Compared with the controls, FCD cortices showed prominent scattered arrangement of PV positive neurons and fibers, dramatically decreased number of PV positive interneurons and PV background staining, especially in foci of FCD II subtype.
CONCLUSIONThere are increased expressions of NR1 and NR2A/B subunits in FCD abnormal neurons, as well as scattered and reduced expressions of PV positive neurons and fibers in FCD cortices.
Adolescent ; Biomarkers, Tumor ; metabolism ; Cerebral Cortex ; metabolism ; pathology ; Child ; Child, Preschool ; Epilepsies, Partial ; pathology ; Female ; Gene Expression Regulation ; Humans ; Infant ; Interneurons ; metabolism ; Male ; Malformations of Cortical Development ; pathology ; Neurons ; metabolism ; Parvalbumins ; analysis ; isolation & purification ; Receptors, N-Methyl-D-Aspartate ; genetics ; metabolism