Clin Neuropathol
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Glioneuronal tumor with neuropil-like islands (GTNI) is featured by "neuropil-like islands (NIs)" within dominating astroglial components. Isocitrate dehydrogenase (IDH) mutations, particularly IDH1 R132H (G395A), are found in WHO Grade II and III diffuse gliomas as well as secondary, but not primary, glioblastomas. We reviewed 5 cases of GTNI, and assessed histology and immunohistochemistry with various antibodies, including those for IDH1 R132H, as well as direct DNA sequencing for IDH1 G395A. ⋯ The mutation analysis performed on the latter case with DNA separately sampled from the oligodendroglioma- like area and the astrocytoma-like area detected IDH1 G395A in both areas. We have shown diverse pathologic aspects of GTNI. Also, we have shown that the expression of IDH1 R132H in GTNI is largely concordant with that in diffuse gliomas, and that it can be dependent on each histologic component although the mutant IDH1 gene is ubiquitously present within the tumor.
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Astroblastoma is a distinctive brain tumor when its histologic features occur in pure form. More often, the tumor pattern is seen to emerge in infiltrative astrocytic tumors. The former are rare. ⋯ Genetic study (fluorescence in situ hybridization) demonstrated no chromosomal losses or gains. Testing for abnormalities of chromosomes 7, 9, 10, 12, 17, 19 and 20, including the EGFR, p16, PTEN, MDM2 and NF1 gene regions, we found the tumor to exhibit a deletion of PTEN, monosomy 17 and gains of chromosomes 19 and 20q. The latter alterations, having been reported in astroblastoma, were noted in both tumor components, thus confirming the common origin of the glial and sarcomatous elements.
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The history of Italian Neuropathology begins in the XIX century with Lombroso with his studies of criminal and prostitutes, inspired by the positivism of the era, and on the brain of epileptic patients. It reached its peak at the beginning of XX century with Camillo Golgi, Nobel laureate for his impregnation of neurons and the theory of the diffuse neuronal net. Neuropathology was then cultivated in Asylums and Universities where the main subject of interest were dementias and degenerative diseases, followed by vascular and inflammatory diseases. ⋯ As in other developed countries, Neuropathology with the enlargement of its scientific fields, began to split in sub-disciplines. It remained as a wide spectrum of knowledge, but neuropathologists were obliged to specialize in specific areas of the discipline. The continuous change of the set up of the university studies in the country in the last 20 years did not favor Neuropathology from which, moreover, some new independent disciplines originated.
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Malignant hyperthermia (MH) is a classically unapparent pharmacogenetic disorder of the skeletal muscles triggered by inhalational anesthetics or depolarizing muscle relaxants. The disposition to MH is inherited in an autosomal-dominant manner and is primarily due to mutations in the gene for the ryanodine receptor type 1 (RyR1). The present study intended to analyze whether mild muscular symptoms (elevation of the resting CK, cramps in the calves, slight calf hypertrophy) may be associated with susceptibility to MH and/or with histopathological changes. ⋯ The RyR1 Thr2206Met mutation is one of the most frequent mutations in the European MH population but carriers are normally healthy. In this study we could demonstrate that the MH causative Thr2206Met mutation may also be associated both with clinical symptoms of a mild myopathy and histopathological changes in the oxidative inter myofibrillar network.