Most frequent molecular and immunohistochemical markers present in selected types of brain tumors (original) (raw)
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Critical Molecular and Genetic Markers in Primary Brain Tumors with Their Clinical Importance
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An update on the cellular and molecular biology of brain tumors
Patients with tumors of the central nervous system (CNS) remain difficult to treat despite recent advances in surgical, chemotherapeutic and radiotherapeutic techniques. A better understanding of the molecular and cellular biology of neoplasia is providing neuroscientists with a framework on which to devise novel therapies for these patients. It thus becomes imperative that neurologists and neurosurgeons be aware of these advances in basic science that may eventually have a positive impact on patient management. This paper reviews our present knowledge of the process of CNS oncogenesis and the roles that chemicals, viruses, oncogenes, growth inhibitor genes, and growth factors play in the process.
Journal of Neuro-oncology, 2009
Since the establishment of the AANS/CNS Section on Tumors in 1984, neurosurgeons have been actively involved in basic science research of human brain tumors that has moved the field forward considerably. Here, we chronicle the major advances that have been made with respect to our understanding of the concepts guiding the biology of human malignant brain tumors. Numerous technical advances in science, such as the development of gene transfer techniques, the polymerase chain reaction, the discovery of oncogenes and tumor suppressor genes, and the refinement of approaches to cancer cytogenetics have enabled researchers to identify many of the non-random genetic alterations associated with brain tumor growth, invasion, immunology, angiogenesis and apoptosis. These data led to some astounding progress, for example with the use of gene therapy, whereby in the 1990s several human clinical trials were conducted for patients with brain tumors. More recently, the human genome project has been completed providing a blueprint for the human species. What has followed are exciting new techniques in molecular biology such as transcriptional profiling, single nucleotide polymorphism (SNP)-arrays, array comparative genomic hybridization (array-CGH), microRNA profiling, and detection of epigenetic silencing of tumor suppressor genes. The cancer genome is now being sequenced at break neck speed using advanced DNA sequencing techniques. We are on the threshold of cataloguing the major genetic alterations observed in all human brain tumors. What will follow is modeling of these genetic alterations in systems that will allow for the development of novel pharmacotherapeutics and translational research therapies.
Genetics of primary brain tumors: a review
Journal of Neuro-oncology, 1994
In this review we provide evidence for the existence of genes associated with primary malignant brain tumors. We summarize the current knowledge from studies of familial cancer aggregation, hereditary syndromes, and molecular and cytogenetic studies. The epidemiologic evidence is suggestive but inconclusive for an association between brain tumors and cancers in other family members, including cancers of the breast, lung and colon. Central nervous system (CNS) tumors have been associated with several hereditary syndromes including the Li-Fraumeni cancer family syndrome, neurofibromatosis (types 1 and 2), tuberous sclerosis, nevoid basal cell carcinoma syndrome, familial polyposis, and von Hippel-Lindau disease. Significant studies leading to the recognition of molecular and cytogenetic abnormalities in malignant gliomas are described in detail. The genetic studies conducted thus far suggest a role for inherited susceptibility in some CNS tumors.
EUREKA: Health Sciences
Intracerebral malignant brain tumors remain one of the most complex problems of neuro-oncology. Today, promising results of the use of targeted drugs have been received, which determine the important diagnostic and predictive value of molecular genetic markers of glial and metastatic brain tumors. Aim: The study of the prevalence of MGMT (O6-methylguanine-DNA methyltransferase) and PTEN (phosphatase and tensin homologue deleted on chromosome 10) gene expression by real time polymerase chain reaction in tumor tissue of gliomas and brain metastases.
Journal of neuropathology and experimental neurology, 2017
The classification of brain tumors has traditionally depended on microscopic examination of hematoxylin and eosin-stained tissue sections. The increased understanding of clinically relevant genetic alterations has led to the incorporation of molecular signatures as part of the diagnosis of brain malignancies. Advances in sequencing technologies have facilitated the use of next-generation sequencing (NGS) assays in clinical laboratories. We performed a retrospective analysis of sequencing results for 381 brain tumors tested by NGS at our institution using a validated, commercially available panel. The results of the NGS assay were analyzed in conjunction with the results of immunohistochemical stains. A genetic alteration was detected in approximately two thirds of the cases. The most commonly mutated genes were TP53 (37.2%), IDH1 (29.4%), PIK3CA (8%), PTEN (8%), and EGFR (7.5%). BRAF mutations were detected in ∼3% of the cases, including 50% of gangliogliomas and ∼20% of gliosarcoma...
15 defined and other medulloblastoma group is histologically defined. Addition of embryonal tumor multilayered rosettes C19MC altered, embryonal tumor with multilayered rosettes NOS, diffuse leptomeningeal glioneuronal tumors, anaplastic pleomorphic xanthoastrocytoma, and deleting some tumors such as primitive neuroectodermal tumors, gliomatosis cerebri, protoplasmic and fibrillary astrocytoma, cellular ependymoma. Another feature is the addition of brain invasion as a criterion for atypical meningiomas and introduction of grading system I, II, and III for hemangiopericytomas. A total of 150 brain tumors were retrospectively analyzed in this study. The histopathology was correlated with IHC findings to note the difference in result and correlate the histology with IHC, IDH and ATRX and 1p19 q by fluorescence in situ hybridization (FISH) in astrocytomas and oligodendrogliomas as elucidated earlier as IDH mutant then tested for 1p19q codeletion. Out of total 150 patients, 65 were males and 45 were females. Out of the 150 brain tumors the pre WHO 2016 diagnosis rendered were, 37 glial tumors in which there were 05 Grade 1 astrocytoma out which one was protoplasmic astrocytoma, 01 Grade 2 astrocytoma 05 anaplastic astrocytoma. 02 oligodendroglioma, 30 glioblastoma multiforme and one was gemistocytic glioblastoma, 02 mediastinal seminoma in ABSTRACT Background: The WHO 2016 molecular classification corroborating with the histology has given more significant diagnostic objectivity to the diagnosis of brain tumors and it is more reliable for instituting therapy as the heterogeneity and observer subjectivity are bypassed with the addition of isocitrate dehydrogenase, ATRX, and 1p19q, and other molecular markers. Aim: Our aim is to review the histopathology of diagnosed brain tumors and correlate with immunohistochemical (IHC) findings to note for any disparity to reform the diagnosis in order to benefit the patient and report to the clinician if any treatment change is to be considered. Materials and Methods: This article is based on studies of screening and diagnostic test. A total of 150 brain tumors were retrospectively analyzed. Age, gender, and the tumor histological type and grade were systematically recorded. We compared our histopathological diagnosis before the introduction of the WHO 2016 molecular classification of central nervous system tumors and later after the relevant IHC and fluorescence in situ hybridization studies. Statistical Analysis: The statistical analysis was done by using Statistical Package for Social Sciences version recent for Windows. Results: Out of the total 150 brain tumor patients, 65 were males and 45 were females. About 37 were glial and the rest were in other categories. Conclusions: The molecular diagnosis that substantiated with the histomorphology is more objective and beneficial in the treatment of the patients.