The role of IDH1/2 mutations in the pathogenesis of secondary glioblastomas

Cambruzzi, Eduardo

doi:10.5935/1676-2444.20170055

Cited by 9 publications

(8 citation statements)

References 2 publications

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“…IDH1/2 has an important role in chemo and/or radiotherapy in many types of tumors,[ 33 ] and this unique molecular signature (i.e., IDH1/2 mutations) need further studies regarding the impact on GS treatment efficacy and prognosis,[ 11 , 22 , 33 ] Moreover, they seem to explain the cellular metabolism, DNA repair, and epigenetic regulation, which contribute to GS carcinogenesis. [ 33 ] These mutations are common in more than 80% of DLGG and are considered biomarkers in secondary GBM;[ 33 ] however, they are rare in primary GS and GBM.…”

Section: Discussionmentioning

confidence: 99%

“…[ 33 ] These mutations are common in more than 80% of DLGG and are considered biomarkers in secondary GBM;[ 33 ] however, they are rare in primary GS and GBM. [ 11 , 29 ] It is interesting to observe that the presence of IDH mutation in some GS probably means that some of these rare tumors also may arise from a low-grade glioma and follow the course of secondary gliomagenesis like in GBM.…”

Section: Discussionmentioning

confidence: 99%

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IDH1-mutant primary intraventricular gliosarcoma: Case report and systematic review of a rare location and molecular profile

Filho

Barreto

Martins

et al. 2020

Surgical Neurology International

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Background: Gliosarcoma (GS) is classified as an IDH-wild-type variant of glioblastoma (GBM). While GS is already an unusual presentation of GBM, IDH1-mutant cases are especially rare. We present an IDH1-mutant primary intraventricular GS case report and a systematic review of the molecular profile in GS correlating to the prognostic and pathogenesis of IDH1/2 mutations. Case Description: A 44-years-old man presented with ongoing fatigue symptoms and a new-onset intense occipital headache. The patient complained of memory loss, dyscalculia, and concentration difficulties. An MRI revealed a bihemispheric intraventricular mass crossing the midline through the corpus callosum and infiltrating the trigone of the lateral ventricles, hypointense, and hyperintense on the T1- and T2-weighted image. We performed a microsurgical resection with a transparietal transsulcal approach; however, the contralateral mass was attached to vascular structures and we decided to reoperate the patient in another moment. The histopathological study showed a Grade IV tumor and the immunohistochemistry confirmed the diagnosis of GS. The patient presented progressive neurologic decline and died 45 days after the surgical approach. Conclusion: We did two systematic reviews studies from PubMed, EMBASE, MEDLINE, Cochrane, and SCOPUS databases, and included molecular and intraventricular studies of GS. We performed further meta-analysis using OpenMetaAnalyst™ software. We conducted a forest plot with the molecular profile of GS. When correlated IDH1 mutation versus tp53 mutation, we found an odds ratio (OR) of 0.018 (0.005–0.064) and P < 0.001. Moreover, we compared IDH1 mutation versus MGMT methylation (P = 0.006; OR = 0.138 [0.034–0.562]). The studies evaluating the molecular profile in GS prognostics are often extended from all GBMs despite specifics GBM variants (i.e., GS). We found a correlation between IDH1 mutation expression with tp53 and MGMT expression in GS, and future studies exploring this molecular profile in GS are strongly encouraged.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

IDH1-mutant primary intraventricular gliosarcoma: Case report and systematic review of a rare location and molecular profile

Filho

Barreto

Martins

et al. 2020

Surgical Neurology International

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“…These enzymes play a vital role in the response to oxidative stress. It has been reported that, the IDH mutations promote cell proliferation and blocks cell differentiation (Cambruzzi, 2017). Molecular analysis by sequencing of the IDH1 gene, codon 132, showed a frequency of 12.36% and 36.75% in Moroccan population (Senhaji et al, 2017; Senhaji et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

Genetics of Glioblastoma in Moroccan population: Review of literature

et al. 2018

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Glioblastoma is the most aggressive malignant type of central nervous system tumors. The literature review revealed that the most common genetic abnormalities in primary and secondary glioblastomas are IDH1 / 2 mutations, p53 mutations, and overexpression of EGFR.To our knowledge, this is the first Moroccan study to provide a global picture of genetic studies performed on Moroccan patients to describe genetic markers and their frequency in our population.An in-depth research in ScienceDirect and Pubmed on glioblastoma articles treated in Morocco, this research is based on the following keywords: glioblastoma in Morocco, primary glioblastoma in Morocco, secondary glioblastoma in Morocco.We found only three research articles on genomic alteration of IDH1 / 2, p53 and EGFR expression. The frequency of these gene mutations in our population was similar to those reported from other populations.Additional molecular studies need to be performed on other genes to describe other genetic markers in the Moroccan population.

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“…About 90% are now classified as IDH-wildtype; they are located in the supratentorial brain region and are characterized by extensive necrosis, TP53 mutations, TERT promoter methylation, EGFR amplification and PTEN mutations. Approximately 10% of cases are IDH-mutant glioblastoma, considered secondary, which means they may have progressed from a lower grade glioma; they are located in the cerebral frontal lobe and are characterized by limited tumor necrosis, TP53 and ATRX mutations, and TERT promoter mutation (18)(19)(20). Overexpression of platelet-derived growth factor receptor alpha (PDGFRA) gene and IDH1 mutation are among the main genetic changes found in low-grade gliomas, as well as in secondary glioblastomas (21).…”

Section: Glioblastomasmentioning

confidence: 99%

Molecular Markers of Gliomas to Predict Treatment and Prognosis: Current State and Future Directions

Rapôso

Araújo

Barreto

2021

Gliomas

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Gliomas used to be classified mainly based on histopathological criteria. In 2016, the Word Health Organization introduced a new classification system incorporating the molecular profile of gliomas. This has prompted research on the utility of molecular signature of gliomas to predict prognosis and response to therapy. While experimental data appear to be promising, the clinical use of molecular markers to predict prognosis and drive individual treatments is still a challenge. This chapter presents an overview of the major genes and markers associated with the characterization and development of gliomas, and the potential of these molecular markers in clinical decision-making. The current challenges and future directions are discussed.

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The role of IDH1/2 mutations in the pathogenesis of secondary glioblastomas

Cited by 9 publications

References 2 publications

IDH1-mutant primary intraventricular gliosarcoma: Case report and systematic review of a rare location and molecular profile

IDH1-mutant primary intraventricular gliosarcoma: Case report and systematic review of a rare location and molecular profile

Genetics of Glioblastoma in Moroccan population: Review of literature

Molecular Markers of Gliomas to Predict Treatment and Prognosis: Current State and Future Directions

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