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 language | English |
|---|---|
| Pages (from-to) | 57134-57148 |
| Number of pages | 15 |
| Journal | Oncotarget |
| Volume | 8 |
| Issue number | 34 |
| DOIs | |
| Publication status | Published - 2017 |
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Keywords
- 1p/19q LOH
- Glioma
- IDH
- MassARRAY
- TERT
ASJC Scopus subject areas
- Oncology
Cite this
Mass spectrometry-based assay for the molecular diagnosis of glioma : Concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status. / Pesenti, Chiara; Paganini, Leda; Fontana, Laura; Veniani, Emanuela; Runza, Letterio; Ferrero, Stefano; Bosari, Silvano; Menghi, Maura; Marfia, Giovanni; Caroli, Manuela; Silipigni, Rosamaria; Guerneri, Silvana; Tabano, Silvia; Miozzo, Monica.
In: Oncotarget, Vol. 8, No. 34, 2017, p. 57134-57148.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mass spectrometry-based assay for the molecular diagnosis of glioma
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
Y1 - 2017
N2 - 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.
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.
KW - 1p/19q LOH
KW - Glioma
KW - IDH
KW - MassARRAY
KW - TERT
UR - http://www.scopus.com/inward/record.url?scp=85029099762&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85029099762&partnerID=8YFLogxK
U2 - 10.18632/oncotarget.19103
DO - 10.18632/oncotarget.19103
M3 - Article
AN - SCOPUS:85029099762
VL - 8
SP - 57134
EP - 57148
JO - Oncotarget
JF - Oncotarget
SN - 1949-2553
IS - 34
ER -