ArticleThe Journal of molecular diagnostics : JMD2010
A pyrosequencing-based assay for the rapid detection of IDH1 mutations in clinical samples.
Article in The Journal of molecular diagnostics : JMD, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 63 citations in OpenAlex.
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- Tonabersat enhances temozolomide-mediated cytotoxicity in glioblastoma by disrupting intercellular connectivity through connexin 43 inhibition.Molecular oncology · 2025Article
- Profiles of survival prediction in glioblastoma.Brain & spine · 2025Article
- Two Patterns of White Matter Connection in Multiple Gliomas: Evidence from Probabilistic Fiber Tracking.Journal of clinical medicine · 2022Article
- Machine learning modeling of genome-wide copy number alteration signatures reliably predicts IDH mutational status in adult diffuse glioma.Acta neuropathologica communications · 2021Article
- Recent Trends of microRNA Significance in Pediatric Population Glioblastoma and Current Knowledge of Micro RNA Function in Glioblastoma Multiforme.International journal of molecular sciences · 2020Review
- Assessment of Pre-operative Measurements of Tumor Size by MRI Methods as Survival Predictors in Wild Type IDH Glioblastoma.Frontiers in oncology · 2020Article
- IDH Mutation Analysis in Glioma Patients by CADMA Compared with SNaPshot Assay and two Immunohistochemical Methods.Pathology oncology research : POR · 2019Article
- Article
- Qualitative and Quantitative Analysis of IDH1 Mutation in Progressive Gliomas by Allele-Specific qPCR and Western Blot Analysis.Technology in cancer research & treatment · 2019Article
- Molecular Subgroups of Glioblastoma- an Assessment by Immunohistochemical Markers.Pathology oncology research : POR · 2019Article
- Non-canonical IDH1 and IDH2 mutations: a clonal and relevant event in an Italian cohort of gliomas classified according to the 2016 World Health Organization (WHO) criteria.Journal of neuro-oncology · 2017Article
- Pediatric high-grade glioma: current molecular landscape and therapeutic approaches.Journal of neuro-oncology · 2017Review
- MTSS1 is epigenetically regulated in glioma cells and inhibits glioma cell motility.Translational oncology · 2017Article
- Mutation Analysis of Isocitrate Dehydrogenase (IDH1/2) and DNA Methyltransferase 3A (DNMT3A) in Thai Patients with Newly Diagnosed Acute Myeloid LeukemiaAsian Pacific journal of cancer prevention : APJCP · 2017Article
- Identification of MGMT promoter methylation sites correlating with gene expression and IDH1 mutation in gliomas.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Article
- Genetics and Epigenetics of Glioblastoma: Applications and Overall Incidence of IDH1 Mutation.Frontiers in oncology · 2016Review
- Molecular heterogeneity characterizes glioblastoma with lipoblast/adipocyte-like cytology.Virchows Archiv : an international journal of pathology · 2015Article
- A new sensitive PCR assay for one-step detection of 12 IDH1/2 mutations in glioma.Acta neuropathologica communications · 2014Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations of both the IDH1 and IDH2 (isocitratedehydrogenase enzyme 1 and 2) genes have recently been described in cases of human glioma. Since IDH1 mutations have been associated with better clinical outcome, they are suitable predictive markers for adult glioma patients. We have developed a pyrosequencing assay that allows both the sensitive and rapid detection of mutant IDH1 alleles in DNA extracted from formalin-fixed, paraffin-embedded tissues. PCR products that span exon 4 of IDH1 were used as a template for pyrosequencing. For validation, PCR products were additionally cloned and sequenced conventionally by Sanger sequencing. Sensitivity was measured by titration of wild-type and mutant sequences. PCR kinetic experiments were performed to investigate the influences of PCR cycle number on the accuracy of the assay. We found that a minimum of 5% of mutant IDH1 alleles can easily be detected with the pyrosequencing approach. So far, there are few data regarding IDH1 mutation status in high-grade gliomas of childhood. Therefore, we applied this assay to 47 pediatric high-grade glioma samples (age range 6 weeks to 23 years). Mutations were found in 5/14 astrocytoma III and in 6/33 glioblastomas. In conclusion, we have developed a pyrosequencing-based assay for the detection of mutations at the hotspot regions of IDH1 and provide proof for its applicability as a molecular diagnostic assay for clinical samples.
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