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Difference between revisions of "Course:Introduction to Neuropathology"
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Course:Introduction to Neuropathology (view source)
Revision as of 10:36, 2 October 2015
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*'''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. | *'''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. | ||
*'''ATRX''' - Alpha thalassemia/mental retardation syndrome X-linked is a member of the WSI/SNF chromatin remodelling family of proteins that have an important roel in sgegation of chromosomes during mitosis. It is expressed in the nuclei of all normal tissues and is lost in [[astrocytoma]]s that use alternative lengthening of telomeres (ALT) as their telomere maintenance mechanism. Since nuclear staining is lost only in IDH1 mutated astrocytomas, the antibody is a very usefula diagnostic biomarker to separate astrocytoma from [[oligodendroglioma]]. Itis however not useful to separate primary glioblastoma from other ATRX-positive tumors such as oligodendroglioma or brain metastases. | |||
A descriptive overview of various brain tumours is found [[Neuropathology tumours|here]]. | A descriptive overview of various brain tumours is found [[Neuropathology tumours|here]]. | ||