Research Papers:

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 _ and Monica Miozzo

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Oncotarget. 2017; 8:57134-57148. https://doi.org/10.18632/oncotarget.19103

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Chiara Pesenti1,2, Leda Paganini1,2, Laura Fontana1, Emanuela Veniani2, Letterio Runza2, Stefano Ferrero2,3, Silvano Bosari1,2, Maura Menghi4, Giovanni Marfia5,6, Manuela Caroli6, Rosamaria Silipigni7, Silvana Guerneri7, Silvia Tabano1 and Monica Miozzo1,2

1Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy

2Division of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

3Department of Biomedical, Surgical and Dental Sciences, Università degli Studi di Milano, Milan, Italy

4Diatech Pharmacogenetics, Jesi, Italy

5Laboratory of Experimental Neurosurgery and Cell Therapy, Neurosurgery Unit, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy

6Neurosurgery Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy

7Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

Correspondence to:

Silvia Tabano, email: [email protected]

Keywords: glioma, 1p/19q LOH, massARRAY, IDH, TERT

Received: March 13, 2017     Accepted: June 19, 2017     Published: July 08, 2017


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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PII: 19103