Search

OBJECTIVE: The transmissible spongiform encephalopathies are characterized by vacuolization, neuronal loss, gliosis and deposition of a misfolded and Proteinase K resistant isoform of the prion protein (PrP(Sc)) in the central nervous system. METHODS MATERIALS AND PATIENTS: Paraffin-embedded tissue blot (PET-blot), immunohistochemistry (IHC) and Western blotting (WB) were combined to study the morphology and localization of disease related PrP in Danish patients with different subtypes of sporadic Creutzfeldt-Jakob disease, familiar Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker disease. RESULTS AND CONCLUSION: There was a good morphological and anatomical concordance between what was found with PET-blot and IHC in all patients. In some specific cases, the PET-blot was superior to IHC in sensitivity. To our knowledge, this is the first report where PET-blot analysis is applied to hereditary forms of human transmissible spongiform encephalopathies and compared with sporadic cases of Creutzfeldt-Jakob disease Udgivelsesdato: 2009/9

Histological classification of gliomas is important for treatment and as a prognostic predictor, but classification by histology alone can be a challenge. Molecular genetic investigations, in particular the combined loss of the short arm of chromosome 1 and the long arm of chromosome 19 (LOH1p/19q), has become a significant predictor of outcome in oligodendrogliomas. 1p/19q alterations can be investigated by fluorescence in situ hybridization (FISH), but controversies persist in the interpretation ofresults. Another technique is polymerase chain reaction (PCR) analysis using microsatellites as primers and capillary electrophoresis or southern blot as detection method. The objective of the present study was to compare the accuracy, reliability and feasibility of detecting chromosomal changes at 1p/19q with PCR microsatellite analysis and FISH in glial tumors in the clinical laboratory, where often only small formalin-fixed paraffin-embedded samples are available. Commercial DNA and normal cortex were used for comparison. The material comprised 41 glial tumors including 10 oligodendrogliomas (WHO Grades II and III, 5 each), 10 mixed oligoastrocytomas (WHO Grades II and III, 5 each), 10 astrocytomas (WHO Grades II and III, 5 each), and 11 glioblastomas (WHO Grade IV). Our data confirmed a correlation between FISH and LOH fragment analysis in classical oligodendrogliomas and in mixed oligoastrocytomas. Disparity was found among the glioblastomas, where fragment analysis showed 1p/19q loss in three cases, with no changes detected by FISH. The fragment analysis seems reliable and implementable for LOH 1p/19q investigation without patient-related control material Udgivelsesdato: 2008/11