Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0017636 (glioblastoma)
 18,345 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 41 year old male presented with headache, lethargy, and ataxia and found to have a left temporal lobe mass and a leukoerythroblastic peripheral blood smear. The latter prompted an iliac crest bone marrow biopsy on which a diagnosis of metastatic glioma was made and verified by immunohistologic characterization. The patient was treated with cranial irradiation and simultaneous systemic BCNU (bis-dichloroethylnitrosurea) with complete response. This case with diffuse bone marrow involvement demonstrates that a glioblastoma is capable of extracranial metastases without previous intervention. From a review of reported cases of gliomas of extraneural metastasis, it is concluded that untreated gliomas are capable of vascular spread although less frequently than previously manipulated tumors.
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PMID:Intracranial astrocytoma with diffuse bone marrow metastasis: a case report and review of the literature. 329 52

Among 100 childhood brain tumors treated at Kobe Children's Hospital from May 1970 to June 1985, 18 of the children presented with symptoms during the first year of life. This paper analyzes these 18 cases. Supratentorial tumors (78%) were more common than infratentorial ones, and 67% of all the tumors were located in the central neural axis. Initial symptoms were cranial enlargement (56%), vomiting (17%), cranial deformity (11%), blepharoptosis, respiratory distress, and ataxia. Histological diagnosis of the tumors was as follows: teratoma (3 cases), medulloblastoma (3), glioblastoma (2), astrocytoma (2), ependymoma (2), craniopharyngioma (1), choroid plexus papilloma (1), hamartoma (1), lipoma (1), melanotic progonoma (1), and an undetermined type, probably medulloblastoma (1). Seventeen of the patients underwent craniotomy for tumor resection (4 total, 4 subtotal and 7 partial removal, and 2 biopsies). Additional therapeutic methods used separately and in various combinations included ventriculoperitoneal shunt, subduralperitoneal shunt, ventricular drainage, radiotherapy and chemotherapy. Nine patients died (average 98 days) after surgery. Of the 9 survivors, 6 are still alive after more than 5 years. Five of the 6 are mentally retarded and 4 are physically handicapped to some degree.
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PMID:Intracranial tumors in the first year of life. 377 67

A 22-year-old male with unilateral facial, cochlear and glossopharyngeal cranial nerve dysfunction and ataxia that was slowly progressive over one year is described. Although clinically it was considered he probably had an acoustic neuroma, surgery revealed a pontine glioblastoma exophytic into the cerebellopontine angle and internal acoustic meatus. Clinicoradiological features that distinguish this extremely rare lesion of the hindbrain from acoustic neuroma are discussed.
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PMID:Exophytic pontine glioblastoma mimicking acoustic neuroma. 955 50

The TRAIL death receptor KILLER/DR5 is induced by DNA damaging agents in wild-type p53-expressing cells. Here we show that, unlike the p53-target CDK-inhibitor p21WAF1/CIP1, the TRAIL death receptor KILLER/DR5 is only induced in cells undergoing p53-dependent apoptosis and not cell cycle arrest. Thus GM glioblastoma cells carrying an inducible MMTV-driven p53 gene undergo cell cycle arrest and upregulate p21 but not KILLER/DR5 expression upon dexamethasone exposure. WI38 normal lung fibroblasts undergoing cell cycle arrest in response to ionizing irradiation also induce p21 but not KILLER/DR5 gene expression. KILLER/DR5 upregulation is also deficient in irradiated lymphoblastoid cells derived from patients with Ataxia Teleangiectasia suggesting a role for the ATM-p53 pathway in regulating KILLER/DR5 expression after DNA damage. Inhibition of transcription by Actinomycin D blocks both KILLER/DR5 and p21 induction in cells undergoing p53-dependent apoptosis. Our results suggest that the p53-dependent transcriptional induction of KILLER/DR5 death receptor is restricted to cells undergoing apoptosis and not cells undergoing exclusively p53-dependent G1 arrest.
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PMID:Induction of the TRAIL receptor KILLER/DR5 in p53-dependent apoptosis but not growth arrest. 1059 42

Somatic inactivation of PTEN occurs in different human tumors including glioblastoma, endometrial carcinoma and prostate carcinoma. Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, ataxia and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum). Homozygous deletion of Pten causes embryonic lethality in mice. To investigate function in the brain, we used Cre-loxP technology to selectively inactivate Pten in specific mouse neuronal populations. Loss of Pten resulted in progressive macrocephaly and seizures. Neurons lacking Pten expressed high levels of phosphorylated Akt and showed a progressive increase in soma size without evidence of abnormal proliferation. Cerebellar abnormalities closely resembled the histopathology of human Lhermitte-Duclos disease. These results indicate that Pten regulates neuronal size in vivo in a cell-autonomous manner and provide new insights into the etiology of Lhermitte-Duclos disease.
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PMID:Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. 1172 27

During the past decade, numerous molecular mediators of neurodegenerative diseases and neurological disorders have been identified and validated, yet few novel therapies have emerged and the unmet medical needs remain high. These molecular mediators belong to target classes such as ion channels, neurotransmitters and neurotransmitter receptors, cytokines, growth factors, enzymes and other proteins. In some cases, substantial pre-clinical validation exists, but the molecular target has not been readily druggable with small molecules, proteins or antibodies. RNA interference represents a therapeutic approach applicable to such non-druggable targets. Both non-viral and viral delivery strategies are being undertaken for in vivo silencing of molecular targets by RNA interference, which has resulted in robust efficacy in animal models of Alzheimer's disease, ALS, Huntington's disease, spinocerebellar ataxia, anxiety, depression, neuropathic pain, encephalitis and glioblastoma. These proof-of-concept data in animal models, together with the commencement of clinical trials using RNA interference for macular degeneration and respiratory syncytial virus infection, point to the potential of direct RNA interference for neurological disorders and neurodegenerative diseases.
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PMID:Therapeutic potential of RNA interference for neurological disorders. 1681 77

A 4-year-old Dutch warmblood mare was presented with a 10-month history of ataxia and proprioceptive deficits. Computed tomography defined a large, non-contrast enhancing mass in the left cerebral hemisphere. Necropsy examination revealed a tumour that effaced much of the piriform and temporal lobes. Microscopically the lesion was classified as a grade IV glioblastoma with an oligodendroglial component (GBM-O). The tumour was composed of highly pleomorphic cells organized in different patterns within a fibrillary stroma. There were multiple foci of necrosis. At the periphery of the tumour neoplastic oligodendroglioma-like cells were embedded in an extracellular mucinous matrix. Most neoplastic cells were strongly immunoreactive for glial fibrillary acidic protein; however, the oligodendroglioma cells did not express this marker. Cells forming microvascular proliferations were positively labelled for expression of factor VIII and smooth muscle actin. All neoplastic cells were negative for Neu-N and synaptophysin. The proliferation index was up to 5%. All neoplastic cells and normal brain tissue from the horse were uniformly negative for expression of epidermal growth factor receptor (EGFR), EGFR vIII mutant and the phosphatase and tensin homologue (PTEN) compared with positive control human GBM tissue. To our knowledge this is the first report of a GBM-O in the horse.
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PMID:A grade IV glioblastoma with an oligodendroglial component (GBM-O) in a horse. 1989 10

Cerebellar glioblastoma in the elderly is rare. Only 33 cases have been reported in the literature. We report on a 65-year-old male patient with cerebellar glioblastoma. Computed tomography scan revealed a posterior fossa tumor of 34 x 33 x 52 mm in size, with hydrocephalus. The patient presented with posterior fossa symptoms, ataxia, nausea and vomiting. He deteriorated rapidly and ventricular drainage was performed. When the patient's condition improved, suboccipital median craniectomy was performed and the tumor was removed. Postoperative treatment included radiotherapy and temozolomide chemotherapy.
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PMID:Cerebellar glioblastoma in the elderly--case report. 1992 18

Linking genes with the underlying mechanisms of diseases is one of the biggest challenges of genomics-driven drug discovery research. Designing an inhibitor for any neurodegenerative disease that effectively halts the pathogenicity of the disease is yet to be achieved. The challenge lies in crossing the blood-brain barrier (BBB)/blood-cerebrospinal fluid barrier (BCSFB) to reach the catalytic pockets of the enzyme/protein involved in the molecular mechanism of the disease process. Designing siRNA with exquisite specificity may result in selective suppression of the disease-linked gene. Although siRNA is the most promising method, it loses its potency in downregulating the gene due to its inherent instability, off-target effects, and lack of on-target effective delivery systems. Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, amyotrophic lateral sclerosis (ALS), anxiety, depression, encephalitis, glioblastoma, Huntington's disease, neuropathic pain, and spinocerebellar ataxia. To realize the full therapeutic potential of siRNA for neurodegenerative diseases, we need to overcome many hurdles and challenges such as selecting suitable tissue-specific delivery vectors, minimizing the off-target effects, and achieving distribution in sufficient concentrations at the target tissue without any side effects. Cationic nanoparticle-mediated targeted siRNA delivery for therapeutic purposes has gained considerable clinical importance as a result of its promising efficacy.
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PMID:Nonviral siRNA delivery for gene silencing in neurodegenerative diseases. 2021 54

Glioblastoma is very rare in the pineal region. We report a case of glioblastoma in this region. This is the 18th case of primary glioblastoma in the pineal region and the second case that survived over two years according the literature. A 60-year-old man admitted with headache and ataxia that continued for the last 3 months. Physical examination was normal. Neurological examination revealed ataxia. There was no motor or sensory deficit. Computer tomography showed triventricular hydrocephalus and isodense rounded mass in the pineal region. Magnetic resonance images revealed a regular-edged heterogeneous contrast-enhanced tumor in pineal region. A ventriculoperitoneal shunt was inserted for hydrocephalus. After surgery, the ataxia and hydrocephalus were improved. Ten days later, serial stereotactic biopsies were performed. Histopathological specimens revealed glioblastoma. The patient was recommended to undergo radiotherapy and chemotherapy. The patient is still surviving without deficit two years after biopsy and shunt operation.
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PMID:Primary pineal glioblastoma: a case report. 2410 Dec 87


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