Mass spectrometry-based assay for the molecular diagnosis of glioma: Concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status

Chiara Pesenti, Leda Paganini, Laura Fontana, Emanuela Veniani, Letterio Runza, Stefano Ferrero, Silvano Bosari, Maura Menghi, Giovanni Marfia, Manuela Caroli, Rosamaria Silipigni, Silvana Guerneri, Silvia Tabano, Monica Miozzo

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

The World Health Organization recently revised the diagnosis of glioma, to integrate molecular parameters, including IDH mutations and codeletion (loss of heterozygosity; LOH) of chromosome arms 1p/19q, into the definitions of adult glioma histological subtypes. Mutations in the TERT promoter may also be useful for glioma diagnosis and prognosis. The integration of molecular markers into routine diagnosis requires their rapid and reliable assessment. We propose a MassARRAY (MS)-based test that can identify 1p/19q codeletion using quantitative SNP genotyping and, simultaneously, characterize hotspot mutations in the IDH1, IDH2, and TERT genes in tumor DNA. We determined the reliability of the MS approach testing 50 gliomas and comparing the MS results with those obtained by standard methods, such as short tandem repeat genotyping, array comparative genomic hybridization (array-CGH) and Fluorescence In Situ Hybridization (FISH) for 1p/19q codeletion and Sanger sequencing for hotspots mutations. The results indicate that MS is suitable for the accurate, rapid, and cost-effective evaluation of chromosome deletions combined with hotspot mutation detection. This MS approach could be similarly exploited in evaluation of LOH in other situations of clinical and/or research importance.

Original languageEnglish
Pages (from-to)57134-57148
Number of pages15
JournalOncotarget
Volume8
Issue number34
DOIs
Publication statusPublished - 2017

Fingerprint

Glioma
Mass Spectrometry
Chromosomes
Mutation
Chromosome Deletion
Comparative Genomic Hybridization
Loss of Heterozygosity
Fluorescence In Situ Hybridization
Microsatellite Repeats
In Situ Hybridization
Single Nucleotide Polymorphism
Costs and Cost Analysis
DNA
Research
Genes
Neoplasms

Keywords

  • 1p/19q LOH
  • Glioma
  • IDH
  • MassARRAY
  • TERT

ASJC Scopus subject areas

  • Oncology

Cite this

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title = "Mass spectrometry-based assay for the molecular diagnosis of glioma: Concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status",
abstract = "The World Health Organization recently revised the diagnosis of glioma, to integrate molecular parameters, including IDH mutations and codeletion (loss of heterozygosity; LOH) of chromosome arms 1p/19q, into the definitions of adult glioma histological subtypes. Mutations in the TERT promoter may also be useful for glioma diagnosis and prognosis. The integration of molecular markers into routine diagnosis requires their rapid and reliable assessment. We propose a MassARRAY (MS)-based test that can identify 1p/19q codeletion using quantitative SNP genotyping and, simultaneously, characterize hotspot mutations in the IDH1, IDH2, and TERT genes in tumor DNA. We determined the reliability of the MS approach testing 50 gliomas and comparing the MS results with those obtained by standard methods, such as short tandem repeat genotyping, array comparative genomic hybridization (array-CGH) and Fluorescence In Situ Hybridization (FISH) for 1p/19q codeletion and Sanger sequencing for hotspots mutations. The results indicate that MS is suitable for the accurate, rapid, and cost-effective evaluation of chromosome deletions combined with hotspot mutation detection. This MS approach could be similarly exploited in evaluation of LOH in other situations of clinical and/or research importance.",
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author = "Chiara Pesenti and Leda Paganini and Laura Fontana and Emanuela Veniani and Letterio Runza and Stefano Ferrero and Silvano Bosari and Maura Menghi and Giovanni Marfia and Manuela Caroli and Rosamaria Silipigni and Silvana Guerneri and Silvia Tabano and Monica Miozzo",
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T2 - Concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status

AU - Pesenti, Chiara

AU - Paganini, Leda

AU - Fontana, Laura

AU - Veniani, Emanuela

AU - Runza, Letterio

AU - Ferrero, Stefano

AU - Bosari, Silvano

AU - Menghi, Maura

AU - Marfia, Giovanni

AU - Caroli, Manuela

AU - Silipigni, Rosamaria

AU - Guerneri, Silvana

AU - Tabano, Silvia

AU - Miozzo, Monica

PY - 2017

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AB - The World Health Organization recently revised the diagnosis of glioma, to integrate molecular parameters, including IDH mutations and codeletion (loss of heterozygosity; LOH) of chromosome arms 1p/19q, into the definitions of adult glioma histological subtypes. Mutations in the TERT promoter may also be useful for glioma diagnosis and prognosis. The integration of molecular markers into routine diagnosis requires their rapid and reliable assessment. We propose a MassARRAY (MS)-based test that can identify 1p/19q codeletion using quantitative SNP genotyping and, simultaneously, characterize hotspot mutations in the IDH1, IDH2, and TERT genes in tumor DNA. We determined the reliability of the MS approach testing 50 gliomas and comparing the MS results with those obtained by standard methods, such as short tandem repeat genotyping, array comparative genomic hybridization (array-CGH) and Fluorescence In Situ Hybridization (FISH) for 1p/19q codeletion and Sanger sequencing for hotspots mutations. The results indicate that MS is suitable for the accurate, rapid, and cost-effective evaluation of chromosome deletions combined with hotspot mutation detection. This MS approach could be similarly exploited in evaluation of LOH in other situations of clinical and/or research importance.

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