Oligodendroglial tumors presenting loss of heterozygosity (LOH) at 1p and 19q have been shown to be sensitive to chemotherapy, thus making 1p-19q status testing a key aspect in oligodendroglioma diagnosis and prognosis. Twenty-nine tumor samples (19 oligodendrogliomas, 10 oligoastrocytomas) were analyzed in order to obtain a molecular profile identifying those bearing 1p-19q LOH. Other genomic anomalies usually present in gliomas, such as EGFR amplification, CDKN2A/ARF deletion, 10q LOH and TP53 mutation, were also studied. Tumors with 1p-19q LOH overexpressed genes related to neurogenesis. Genes linked to immune response, proliferation and inflammation were overexpressed in the group with intact 1p-19q; this group could in turn be further divided in two subgroups: one overexpressing genes involved in immune response and inflammation that did not show major genetic aberrations other than the TP53 mutation and EGFR trisomy in a few cases, and another overexpressing genes related to immune response and proliferation that had a predominance of samples carrying several anomalies and presenting worse outcomes. This molecular signature was validated by analyzing a set of ten tumor samples (three oligodendrogliomas, seven oligoastrocytomas); all ten samples were correctly assigned. LOH at 1p-19q results in haploinsufficiency and copy number reduction of several genes, including NOTCH 2; this phenomenon produces a global change in gene expression inducing a pro-neural status that results in restrictions to cell migration and proliferation. Tumors without LOH at 1p-19q exhibit the opposite characteristics, explaining their more aggressive behavior.
In Rosai-Dorfman disease (RDD), exclusive extranodal involvement with lesions limited to the kidneys is very uncommon and has been described only in adult patients. Occasionally, human herpesvirus 6 (HHV-6) has also been detected in RDD tissue samples. We present the case of a 7-year-old boy referred to our center presenting a single solid mass in the right kidney measuring 3.4 cm, detected both on contrast computed tomography and magnetic resonance imaging. Surgical excision was successfully completed, and the pathology report informed characteristic histopathology and immmunohistochemistry features of RDD. Human herpesvirus 6 was detected and amplified by polymerase chain reaction, as well as by immunohistochemistry. We discuss imaging and histology-based differential diagnoses in the pediatric age group. Although RDD is a rare histiocytic disorder of unknown etiology and pathogenesis, the presence of HHV-6 observed in this case supports the possibility of an abnormal immunologic response linked to viral presence.
Malignant gliomas are the most common subtype of primary central nervous system (CNS) tumors. Their pathological classification, however, remains subjective, stimulating researchers to actively seek objective molecular markers to discover alternative and more reproducible tools for improved subtypification. Herein, we present a global survey of genomic alterations in oligodendroglial tumors (OT). Genetic and epigenetic alterations identified in this study are correlated with OT molecular groups we have recently reported: a neurogenic group composed of tumors with loss of heterozygosity (LOH) at 1p-19q, IDH1 mutations, and MGMT promoter methylation, showing good prognosis; an intermediate group, presenting TP53 mutations or LOH at 17p, IDH1 mutations, and GSTP1 promoter methylation; and a proliferative group, presenting major genetic alterations (LOH at 10q, EGFR amplification, and CDKN2A/ARF deletion) and poor prognosis. These results allowed us to refine our molecular characterization associated with prognosis, referring exclusively to oligodendroglial tumors.
A polymerase chain reaction (PCR) method for the detection of the glmM gene, selected as Helicobacter pylori target sequence, was improved. While performing pathogenicity island cagA gene detection to discriminate pathogenic strains in atherosclerotic carotid samples, several cagA-positive but glmM-negative samples were found. Polymorphisms present in the region amplified in the nested PCR reaction could explain this result; primers were therefore designed to perform a seminested reaction; this modification optimized sensitivity while maintaining specificity. A real-time PCR for Helicobacter DNA detection was also setup. The combination of all 4 PCR reactions detected 83% of H. pylori DNA-positive samples in atherosclerotic carotid tissue, 64% of which were cagA gene positive.
An inversion, inv(4)(p14q27), was found as the sole karyotypic anomaly at diagnosis in the bone marrow cells from a 65-year-old male patient with an M4 acute nonlymphocytic leukemia (ANLL). To our knowledge, the breakpoints observed in this case appear to be different from other inversions of chromosome 4 previously described in ANLL. The patient we described had a poor response to chemotherapy and had a short survival.
Encephalitis is usually an acute or subacute infectious disease presenting variable symptoms including headache, confusion, seizures and obnubilation, with Herpes simplex virus (HSV) as one of its most frequent etiological agents 1,2 . Occasionally, clinical presentation may be subtle, chronic and more like a brain tumor, making correct diagnosis difficult and misleading.A few cases have been reported in which brain tumors mimic herpetic encephalitis at onset, however very little information has been published on the opposite situation, namely herpetic encephalitis masquerading as a CNS neoplasm.Although it is important to bear this possibility in mind in patients suffering from an expansive temporal mass and presenting an atypical clinical course, infectious encephalitis is not often considered as a potential diagnosis in patients with typical signs and symptoms of a brain tumor.This case is therefore interesting as it represents an unusual form of herpetic encephalitis (HE). CaSeWe report a 49 year-old diabetic and hypothyroid female referred to our neurological department because of a single and brief episode of behavioral arrest, followed by urinary incontinence two months prior to consultation. She had been receiving antibiotic therapy for a tooth abscess one week before a partial complex crisis. Although the patient's personal history was uneventful, she did have three family members with a positive history for cancer. No abnormalities were noted on physical examination. A brain MRI carried out at this time to evaluate seizure etiology revealed an extensive right temporal and insular lesion, hypointense on T1, and hyperintense-on T2 and flair weighted images, with mass effect and enhancing after gadolinium administration. Four months later, MRI images remained the same and myoinositol and choline peaks were reported elevated on spectroscopy sequence analysis (Fig 1).Based on clinical course and MRI imaging results, an oligodendroglioma/ oligoastrocitoma tumor was initially suspected. A right-side pterional craniotomy, sylvian fissure dissection and medial temporal lobe exposure was indicated with corticectomy of the anterior portion of the uncus. An intrasurgical biopsy showed edematous changes in the uncus and anterior portion of the hippocampus together with lymphocytic infiltration and gemistocytic astrocytes, some with bizarre nuclei. Postoperative course was uneventful. Pathological examination of the whole biopsy sample showed diffuse meningeal and cortical brain tissue and vascular lymphocyte infiltration with reactive gemisto-
Introduction: Genetic susceptibility affects atherosclerosis in humans. Polymorphisms of genes of angiotensin-converting enzyme (ACE), lipoprotein APOE (APOE), IL1 receptor antagonist (IL1Ra) and myeloperoxidase (MPO) are associated with several components of atherosclerotic disease. We evaluated allelic and genotypic frequencies and their association with age at presentation, vascular risk factors, and presence of symptoms in subjects with carotid atherosclerosis. Methods: We studied Argentine patients with severe carotid atherosclerosis and controls from the general population. Age, vascular risk factors and presence of neurological symptoms were recorded. DNA was obtained from peripheral blood and PCR or PCR-RFLP were used to typify ACE, APOE, IL1Ra, and MPO genes. Allelic and genotypic frequencies were compared and genotypic susceptibility variants were established. Chi-square and good fit test were applied for differences between expected and observed frequencies. Results: There were 137 patients, 36 women and 101 men, aged 67±8 years. Symptomatic subjects younger than 60 years had higher frequency of the alleles ACE-DD, associated to vasoconstriction, endothelial proliferation, oxidation, and apoptosis (p<0.01); IL1RN-12/22, associated to inflammation and apoptosis (p<0.01); and MPO*GA/AA, associated to less oxidative response and proatherogenic (p<0.05). Subjects older than 60 years had a genetic profile similar to the general population without atherosclerosis, with similar prevalence of ACE-ID/II, IL1RN-11, and MPO-GG and a higher frequency of APOE23, 24 and 34m. Independent associations of ACE*D and IL1RN*2 with dyslipidemia and of MPO-GA and APOE-34 with hypertension were observed. Conclusions: Subjects with carotid atherosclerosis are genetically different from the general population. Carriers of certain gene variants were predominant among atherosclerotic subjects, suggesting susceptibility, and others were more prevalent in controls, suggesting protection. Some polymorphisms and their combinations are associated with occurrence of symptomatic disease at an earlier age. The genetic profile of older patients does not substantially differ from the general population.
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