Difference between revisions of "Course:Introduction to Neuropathology"

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*'''GFAP''' (Ab-1) The 49kDa glial fibrillary acidic protein is an intermediate filament protein that is expressed by numerous cell types of the CNS including astrocytes and ependymal cells. It is related to otherintermediate filaments such as desmin and vimentin. Loss of GFAP through mutations results in Alexanders Disease where the white matter degenerates. Brain tumors that are derived of astrocytes ([[astroccatoma]] and [[glioblastoma]] stain for GFAP, that is absent in metastatic carcinomas and oligodendrogliomas [except for [[minigemistocyte]]s. Local and reactive astrocytes between brain tumor cells may mark for GFAP and should not confused with tumour positivity. White matter serves as ideal positive control. Cross-reactivity is seen with peripheral Schwann cells.

*'''IDH1''' (IDH1 R132H) The isocitrate dehydrogenase is an important enzyme catalyzing the oxidative decarboxylation of isocitrate to 2-oxoglutarate. Mutations in motochondrial IDH1 and its cytoplasmic homologue IDH2 are among the most frequent mutations in diffuse gliomas, including [[astrocytoma]], [[oligodendroglioma]] and the secondary [[glioblastoma]]s that are derived therof. In contrast primary (de novo) glioblastomas usually do not carry this mutation. IDH1 mutations are heterozygous, typically involving an amino acid substitution in the active site of the enzyme in codon 132. The employed antibody is specific for the very common R132H amino acid exchange. It doesn't detect rare R132C or other IDH2 mutations. In such cases direct sequencing is necessary. Because the R132H mutation is tumor specfic, positive staining (oligodendrogliomas are ideal controls) is proves presence of a neoplasm.

A descriptive overview of various brain tumours is found [[Neuropathology tumours|here]].

Difference between revisions of "Course:Introduction to Neuropathology"

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 *'''GFAP''' (Ab-1) The 49kDa glial fibrillary acidic protein is an intermediate filament protein that is expressed by numerous cell types of the CNS including astrocytes and ependymal cells. It is related to otherintermediate filaments such as desmin and vimentin. Loss of GFAP through mutations results in Alexanders Disease where the white matter degenerates. Brain tumors that are derived of astrocytes ([[astroccatoma]] and [[glioblastoma]] stain for GFAP, that is absent in metastatic carcinomas and oligodendrogliomas [except for [[minigemistocyte]]s. Local and reactive astrocytes between brain tumor cells may mark for GFAP and should not confused with tumour positivity. White matter serves as ideal positive control. Cross-reactivity is seen with peripheral Schwann cells.
+*'''IDH1''' (IDH1 R132H) The isocitrate dehydrogenase is an important enzyme catalyzing the oxidative decarboxylation of isocitrate to 2-oxoglutarate. Mutations in motochondrial IDH1 and its cytoplasmic homologue IDH2 are among the most frequent mutations in diffuse gliomas, including [[astrocytoma]], [[oligodendroglioma]] and the secondary [[glioblastoma]]s that are derived therof. In contrast primary (de novo) glioblastomas usually do not carry this mutation. IDH1 mutations are heterozygous, typically involving an amino acid substitution in the active site of the enzyme in codon 132. The employed antibody is specific for the very common R132H amino acid exchange. It doesn't detect rare R132C or other IDH2 mutations. In such cases direct sequencing is necessary. Because the R132H mutation is tumor specfic, positive staining (oligodendrogliomas are ideal controls) is proves presence of a neoplasm.
 A descriptive overview of various brain tumours is found [[Neuropathology tumours|here]].