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Brain Tumor Pathology Jan 2016A 29-year-old man presented with scintillation scotoma. MR imaging demonstrated a diffuse lesion in right parahippocampal gyrus. He underwent a biopsy, and the diagnosis...
A 29-year-old man presented with scintillation scotoma. MR imaging demonstrated a diffuse lesion in right parahippocampal gyrus. He underwent a biopsy, and the diagnosis was diffuse astrocytoma. Because of enlargement and new areas of gadolinium enhancement, the tumor was resected 18 months after biopsy. Histological examination revealed malignant transformation to glioblastoma with small areas of epithelioid component. He received radiation and temozolomide chemotherapy. Local recurrence was found 20 months after first resection. He underwent second resection, and the diagnosis was glioblastoma. DNA from the micro-dissected paraffin-embedded sections were analyzed for the mutation of the isocitrate dehydrogenase1 (IDH1) and IDH2 and v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) genes. No mutations of the IDH genes were detected in any tumor specimen. In contrast, missense mutation at codon 600 in the BRAF gene (BRAF V600E) was found exclusively in the malignant areas from both resected glioblastoma specimens. We screened other genetic aberrations commonly seen in glioblastoma with multiplex ligation-dependent probe analysis. Deletion of CDKN2A and CDKN2B loci was found both in diffuse astrocytoma and glioblastoma component, but no other significant alterations were found. This case suggests that the BRAF V600E mutation may be involved in the malignant transformation to glioblastoma.
Topics: Adult; Astrocytoma; Brain Neoplasms; Cell Transformation, Neoplastic; Cyclin-Dependent Kinase Inhibitor p16; Gene Deletion; Glioblastoma; Humans; Magnetic Resonance Imaging; Male; Mutation; Proto-Oncogene Proteins B-raf
PubMed: 26404554
DOI: 10.1007/s10014-015-0231-7 -
Asian Pacific Journal of Cancer... Sep 2022This study evaluated the differences between IDH1-R132H and CD133 expression in different categories of astrocytoma.
OBJECTIVE
This study evaluated the differences between IDH1-R132H and CD133 expression in different categories of astrocytoma.
MATERIAL AND METHODS
This study used a cross-sectional design. Sixty-seven paraffin embedded block of Diffuse Astrocytoma (DA), Anaplastic Astrocytoma (AA) and Glioblastoma (GB) were assessed using using the monoclonal antibody IDH1-R132H and Rabbit polyclonal antibody CD133.
RESULTS
It was found that there was a significant relationship between the expression of IDH1-R132H and CD133 in DA, AA and GB (p<0.001). Astrocytoma with IDH-mutant molecular status will express more markers of cancer stem cell CD133 than IDH-wildtype.
CONCLUSION
The IDH1-R132H and CD133 can provide predictive value on treatment success, disease prognosis, recurrence and can be considered as target combination therapy with chemotherapy.
Topics: Animals; Antibodies, Monoclonal; Astrocytoma; Biomarkers; Brain Neoplasms; Cross-Sectional Studies; Glioblastoma; Isocitrate Dehydrogenase; Mutation; Neoplastic Stem Cells; Rabbits
PubMed: 36172668
DOI: 10.31557/APJCP.2022.23.9.3051 -
World Neurosurgery Jul 2018Gliomas that show extensive diffuse infiltration from the cerebellum to the brainstem without masslike expansion are extremely rare. The efficacy of bevacizumab... (Review)
Review
BACKGROUND
Gliomas that show extensive diffuse infiltration from the cerebellum to the brainstem without masslike expansion are extremely rare. The efficacy of bevacizumab treatment for diffusely infiltrating gliomas remains uncertain.
CASE DESCRIPTION
A 75-year-old man presented with a cerebellar anaplastic astrocytoma showing diffuse infiltration to the brainstem without a definite mass. He had experienced rapidly progressive nausea and dysarthria, as well as vertigo and headache for 2 months. Magnetic resonance imaging (MRI) revealed a poorly demarcated T2 high-intensity area in the right cerebellum and brainstem. The tumor in the right cerebellum showed sparse enhancement with gadolinium (Gd). Suboccipital decompressive craniotomy and partial removal of the tumor was emergently performed because of the rapid progression of symptoms and severe tonsillar herniation demonstrated on MRI. The pathologic diagnosis was anaplastic astrocytoma, and genomic analyses revealed no mutation in IDH1, H3F3A, or BRAF. During concomitant chemoradiotherapy with temozolomide, rapid worsening of the neurologic symptoms developed and significant enlargement of the T2 high-intensity area extending to the cerebral peduncle was seen, as well as a new Gd-enhancing lesion in the midbrain. After administration of bevacizumab, the neurologic symptoms gradually improved, the T2 high-intensity area decreased, and the Gd-enhancing lesion disappeared. At follow-up 2 years after the operation, no worsening of neurologic symptoms was seen and the residual T2 high-intensity area remained unchanged on MRI.
CONCLUSIONS
Bevacizumab treatment may be a salvage treatment option for patients with diffusely infiltrating cerebellar gliomas that exhibits rapid progression during standard treatment.
Topics: Aged; Antineoplastic Agents, Immunological; Astrocytoma; Bevacizumab; Cerebellar Neoplasms; Humans; Male
PubMed: 29704688
DOI: 10.1016/j.wneu.2018.04.110 -
Journal of Neuro-oncology Jan 1993A 38 year old patient developed multiple cranial nerve palsy, seizures and progressive alteration in consciousness. CSF examination revealed tumor cells and a tentative... (Review)
Review
A 38 year old patient developed multiple cranial nerve palsy, seizures and progressive alteration in consciousness. CSF examination revealed tumor cells and a tentative diagnosis of leptomeningeal carcinomatosis from an unknown primary tumor was made. Treatment with intrathecal methotrexate and cranial radiation therapy was started without effect. At autopsy widespread leptomeningeal gliomatosis originating from a previously unknown astrocytoma of the hippocampus was found.
Topics: Adult; Astrocytoma; Brain Neoplasms; Cranial Irradiation; Hippocampus; Humans; Injections, Spinal; Male; Meningeal Neoplasms; Methotrexate; Neoplasms, Unknown Primary
PubMed: 8455062
DOI: 10.1007/BF01050262 -
No Shinkei Geka. Neurological Surgery Dec 2018Hemorrhagic low-grade glioma(LGG)without malignant transformation is rare, accounting for less than 1% of cases. To the best of our knowledge, hemorrhagic LGG with an...
Hemorrhagic low-grade glioma(LGG)without malignant transformation is rare, accounting for less than 1% of cases. To the best of our knowledge, hemorrhagic LGG with an arteriovenous(AV)shunt has not been reported. We report the case of 17-year-old man with LGG with an AV shunt. He presented to our hospital with seizure. Computed tomography(CT)demonstrated a hypodense lesion with mass effect in the right frontal lobe. T1-weighted images(WI)and T2WI on magnetic resonance imaging(MRI)revealed acute-onset hemorrhage in the right frontal lobe. Furthermore, a ring-enhancing lesion was noted on gadolinium(Gd)-DTPA T1WI, and an AV shunt was found in the same region on angiography. Gross total tumor resection was performed. The pathological diagnosis was diffuse astrocytoma with pilomyxoid features(WHO grade II). Without adjuvant therapy, no residual tumor was found on MRI at the 6-year follow-up examination. We treated a case of hemorrhagic LGG with an AV shunt. Intratumoral hemorrhage in LGG may occur and should be considered for the differential diagnosis.
Topics: Adolescent; Astrocytoma; Brain Neoplasms; Hemorrhage; Humans; Magnetic Resonance Imaging; Male
PubMed: 30572304
DOI: 10.11477/mf.1436203870 -
BMC Cancer Dec 2015Astrocytomas are the most common primary brain tumors distinguished into four histological grades. Molecular analyses of individual astrocytoma grades have revealed... (Comparative Study)
Comparative Study
BACKGROUND
Astrocytomas are the most common primary brain tumors distinguished into four histological grades. Molecular analyses of individual astrocytoma grades have revealed detailed insights into genetic, transcriptomic and epigenetic alterations. This provides an excellent basis to identify similarities and differences between astrocytoma grades.
METHODS
We utilized public omics data of all four astrocytoma grades focusing on pilocytic astrocytomas (PA I), diffuse astrocytomas (AS II), anaplastic astrocytomas (AS III) and glioblastomas (GBM IV) to identify similarities and differences using well-established bioinformatics and systems biology approaches. We further validated the expression and localization of Ang2 involved in angiogenesis using immunohistochemistry.
RESULTS
Our analyses show similarities and differences between astrocytoma grades at the level of individual genes, signaling pathways and regulatory networks. We identified many differentially expressed genes that were either exclusively observed in a specific astrocytoma grade or commonly affected in specific subsets of astrocytoma grades in comparison to normal brain. Further, the number of differentially expressed genes generally increased with the astrocytoma grade with one major exception. The cytokine receptor pathway showed nearly the same number of differentially expressed genes in PA I and GBM IV and was further characterized by a significant overlap of commonly altered genes and an exclusive enrichment of overexpressed cancer genes in GBM IV. Additional analyses revealed a strong exclusive overexpression of CX3CL1 (fractalkine) and its receptor CX3CR1 in PA I possibly contributing to the absence of invasive growth. We further found that PA I was significantly associated with the mesenchymal subtype typically observed for very aggressive GBM IV. Expression of endothelial and mesenchymal markers (ANGPT2, CHI3L1) indicated a stronger contribution of the micro-environment to the manifestation of the mesenchymal subtype than the tumor biology itself. We further inferred a transcriptional regulatory network associated with specific expression differences distinguishing PA I from AS II, AS III and GBM IV. Major central transcriptional regulators were involved in brain development, cell cycle control, proliferation, apoptosis, chromatin remodeling or DNA methylation. Many of these regulators showed directly underlying DNA methylation changes in PA I or gene copy number mutations in AS II, AS III and GBM IV.
CONCLUSIONS
This computational study characterizes similarities and differences between all four astrocytoma grades confirming known and revealing novel insights into astrocytoma biology. Our findings represent a valuable resource for future computational and experimental studies.
Topics: Astrocytoma; Brain Neoplasms; Humans; Immunohistochemistry; Neoplasm Grading; Transcriptome
PubMed: 26673168
DOI: 10.1186/s12885-015-1939-9 -
Revista de NeurologiaSpinal cord involvement is a rare presentation of grade II astrocytomas. Nevertheless, differentiation from inflammatory demyelinating diseases of the central nervous...
INTRODUCTION
Spinal cord involvement is a rare presentation of grade II astrocytomas. Nevertheless, differentiation from inflammatory demyelinating diseases of the central nervous system can be challenging in some clinical situations. A patient with an optic-spinal syndrome due to a fibrillary astrocytoma is described.
CASE REPORT
A 32 years-old man was admitted to the hospital because of a subacute spinal cord syndrome. Brain MRI showed no abnormalities, and spinal MRI disclosed a cervical cord lesion suggestive of myelitis. Cerebrospinal fluid analysis revealed oligoclonal bands. Clinical improvement was observed after corticosteroid treatment. Three months later, the patient presented with binocular vision loss. A bilateral retrobulbar optic neuritis was suspected, and corticosteroid therapy was administered again. A new MRI with spectroscopy revealed an infiltrative lesion involving the right frontal lobe, optic chiasm, internal capsule, brainstem and cervical spinal cord, which was suggestive of low-grade astrocytoma. Brain biopsy confirmed the diagnosis of diffuse fibrillary astrocytoma.
CONCLUSION
Differential diagnosis between inflammatory and neoplastic lesions of the central nervous system requires close clinical-radiological follow-up. In this clinical situation, treatment response to corticosteroids and presence of oligoclonal bands in the cerebrospinal fluid may be not necessarily indicative of an inflammatory demyelinating process. Brain biopsy is often necessary for a definite diagnosis.
Topics: Adult; Astrocytoma; Biopsy; Brain; Demyelinating Diseases; Humans; Male; Oligoclonal Bands; Optic Neuritis; Spinal Cord; Syndrome
PubMed: 19319816
DOI: No ID Found -
Child's Nervous System : ChNS :... Aug 1998We report the case of a 13-year-old girl with diffuse bilateral thalamic astrocytomas. Incoordination was observed at the onset. Cranial computed tomography (CT) showed... (Review)
Review
We report the case of a 13-year-old girl with diffuse bilateral thalamic astrocytomas. Incoordination was observed at the onset. Cranial computed tomography (CT) showed enlarged thalami, and magnetic resonance imaging (MRI) revealed these lesions to be symmetrically enlarged with high intensity on the T2-weighted image. Owing to these atypical findings in the neuroimaging studies, we had difficulty in making the correct diagnosis of a brain tumor. After the diagnosis of diffuse bilateral thalamic astrocytomas was obtained, we performed hyperfractionated radiotherapy followed by chemotherapy. Radiation therapy was effective for a while, but the girl's condition deteriorated again and she died 8 months after admission. Although diffuse bilateral thalamic astrocytomas are difficult to diagnose because they do not resemble most other neoplasms on neuroimaging studies, pediatricians should keep this entity in mind in order to arrive at a precise and prompt diagnosis.
Topics: Adolescent; Antineoplastic Combined Chemotherapy Protocols; Astrocytoma; Cerebral Ventricle Neoplasms; Child; Fatal Outcome; Female; Humans; Immunohistochemistry; Magnetic Resonance Imaging; Thalamus; Tomography, X-Ray Computed; Ventriculoperitoneal Shunt
PubMed: 9753406
DOI: 10.1007/s003810050250 -
Journal of Cancer Research and... 2023Gliomas are the most common primary intracranial tumors. The current World Health Organization (WHO) classification of central nervous system tumors recommends...
INTRODUCTION
Gliomas are the most common primary intracranial tumors. The current World Health Organization (WHO) classification of central nervous system tumors recommends integrated histo-molecular diagnosis of gliomas. However, molecular testing is not available in even most of the advanced centers of our country, and histopathology aided with immunohistochemistry (IHC) is still widely used for diagnosis. Immunohistochemical markers such as iso-citrate dehydrogenase1 (IDH1) and Alpha Thalassemia/Mental Retardation Syndrome X-linked (ATRX) can be reliably used for the correct diagnosis, prognosis, and treatment of gliomas.
AIM
We aimed to develop a diagnostic algorithm by integrating morphology, IDH1, and ATRX status of gliomas seen in our institute for 1 year.
SETTINGS AND DESIGN
Analytical cross-sectional study.
MATERIALS AND METHODS
This study included 60 histopathologically confirmed cases of astrocytic (n = 51) and oligodendroglial tumors (n = 9). Clinical, radiological, and histopathological features were noted and tumor grades assigned according to the WHO recommendations. IDH1 and ATRX mutation status was evaluated using IHC. The tumors were divided into three molecular groups on the basis of their IDH1 and ATRX mutation status: (1) Group 1: IDH1 negative and ATRX positive, (2) Group 2: IDH1 positive and ATRX positive, (3) Group 3: IDH1 positive and ATRX negative.
RESULTS
The mean age of presentation was 45.0 ± 15.8 years with a male-to-female ratio of 2:1. Seizures, headache, and hemiparesis were the most common modes of presentation. The tumor subtypes studied were glioblastoma (n = 32), anaplastic astrocytoma (n = 7), diffuse astrocytoma (n = 6), oligodendroglioma (n = 6), pilocytic astrocytoma (n = 6), and anaplastic oligodendroglioma (n = 3). IDH1 mutation was present in 26 cases including anaplastic astrocytoma (n = 7), diffuse astrocytoma (n = 6), oligodendroglioma (n = 5), secondary glioblastoma (n = 5), and anaplastic oligodendroglioma (n = 3). ATRX mutation, i. e., loss of ATRX was observed in 17 cases including diffuse astrocytoma (n = 5), anaplastic astocytoma (n = 5), anaplastic oligodendroglioma (n = 3), oligodendroglioma (n = 3), and secondary glioblastoma (n = 1). All six cases of pilocytic astrocytoma were negative for IDH1 and ATRX mutation. There were 34 patients in Group 1 (IDH1- and ATRX +), nine cases in Group 2 (IDH1 + and ATRX +), and 17 patients in Group 3 (IDH1 + and ATRX-).
CONCLUSION
Diagnosis of gliomas should be based on a detailed clinicoradiological and histopathological assessment, followed by genotypic characterization. Evaluation for IDH1and ATRX status has both diagnostic and prognostic value as it helps in differentiating gliomas from reactive gliosis, primary glioblastoma from secondary glioblastoma, and pilocytic astrocytoma (WHO grade I) from diffuse astrocytoma (WHO grade II). Tumors with IDH1 mutations have a better outcome than those with wild-type IDH. IHC can serve as a useful surrogate to conventional molecular tests in resource-constrained settings. By devising an algorithm based on morphological and IHC features, we were able to stratify gliomas into three prognostic subgroups.
Topics: Humans; Male; Female; Adult; Middle Aged; Oligodendroglioma; Glioblastoma; Cross-Sectional Studies; X-linked Nuclear Protein; Glioma; Astrocytoma; Brain Neoplasms; Mutation; Prognosis; Citrates; Citric Acid; Isocitrate Dehydrogenase; Algorithms
PubMed: 37470575
DOI: 10.4103/jcrt.jcrt_102_21 -
Acta Neuropathologica Apr 2010
Topics: Amino Acid Substitution; Antibodies, Monoclonal; Astrocytoma; Brain Neoplasms; Diagnosis, Differential; Gliosis; Humans; Immunohistochemistry; Isocitrate Dehydrogenase; Mutation
PubMed: 20044756
DOI: 10.1007/s00401-009-0632-y