RESUMO
<p><b>OBJECTIVE</b>To correlate the presence of chromosome 1p/19q deletion with the expression of R132H mutant IDH1 status in oligodendroglial tumors, and to explore molecular markers for predicting chemosensitivity of oligodendroglial tumors.</p><p><b>METHODS</b>The study included 75 oligodendroglial tumors (38 oligodendrogliomas and 37 oligoastrocytomas). Immunohistochemistry was used to detect the expression of R132H mutant IDH1 protein, and fluorescence in situ hybridization (FISH) was employed to detect 1p/19q deletion.</p><p><b>RESULTS</b>Deletion of chromosome 1p and/or 19q was detected in 37 cases (37/75, 49.3%), among which co-deletion of 1p and 19q was seen in 34 cases (closely correlated, P < 0.01). Oligodendrogliomas WHOIIhad a slightly higher deletion rate than oligodendrogliomas WHO III, although without statistical significance. Oligodendrogliomas WHO IIand WHO III had a significantly higher deletion rate of chromosome 1p/19q than oligoastrocytomas WHO II and WHO III (P < 0.05). While combined loss of 1p/19q was always detected in oligodendrogliomas when FISH was positive, isolated 1p or 19q deletion was only found in oligoastrocytomas. The expression of R132H mutant IDH1 was detected in 51 of 75 cases (68.0%), in which oligodendrogliomas had a higher positive rate than oligoastrocytomas. Statistical analysis demonstrated a significant correlation between the expression of R132H mutant IDH1 protein and the presence of combined 1p/19q deletion in oligodendrogliomas (P < 0.05).</p><p><b>CONCLUSIONS</b>A significant correlation was observed between the expression of R132H mutant protein and 1p/19q LOH.Expression of 132H mutant IDH1 protein is the potential biomarker for predicating the presence of 1p/19q deletion in oligodendrogliomas.</p>
Assuntos
Idoso , Humanos , Pessoa de Meia-Idade , Neoplasias Encefálicas , Genética , Metabolismo , Deleção Cromossômica , Cromossomos Humanos 19-20 , Genética , Cromossomos Humanos Par 1 , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Isocitrato Desidrogenase , Genética , Metabolismo , Proteínas Mutantes , Metabolismo , Proteínas de Neoplasias , Genética , Metabolismo , Oligodendroglioma , Genética , MetabolismoRESUMO
The authors report the first Thai family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in which the family members had a classical history of progressive vascular dementia. The proband was a 31-year old Thai male who presented with an acute stroke in the subcortical region. His past history revealed mental disturbance, including poor judgement and regressive behavior as well as mood changes for 1 year. He did not have a history of migraine or any other vascular risk factors except for a strong family history of ischemic stroke and progressive dementia. Magnetic resonance imaging demonstrated multiple small infarctions in the subcortical white matter of the bilateral frontal, parietal and occipital lobes with another small lesion in the pons. Genetic study demonstrated a Notch 3 mutation consisting of the substitution of a nucleotide at position 406 in exon 3 leading to the replacement of an Arginine by Cysteine at position 110 in the 2nd EGF motif, which is compatable with CADASIL.
Assuntos
Adulto , Infarto Cerebral/diagnóstico , Cromossomos Humanos 19-20 , Demência por Múltiplos Infartos/diagnóstico , Feminino , Predisposição Genética para Doença , Humanos , Leucoencefalopatia Multifocal Progressiva/diagnóstico , Ligação Genética , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Prognóstico , Proteínas Proto-Oncogênicas/genética , Receptores de Superfície Celular , Medição de Risco , TailândiaRESUMO
Se describe un paciente de 65 años de edad con una anemia sideroblástica adquirida (ASA) en quien se detecta el cromosoma 20q en el estudio citogenético de la médula ósea. Se señalan las relaciones de este hallazgo con la patogenia y evolución de la enfermedad; se comenta la frecuencia de esta alteración cromosómica en la ASA