Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status
| Autor: | Laura Fontana, Giovanni Marfia, Chiara Pesenti, Letterio Runza, Stefano Ferrero, Monica Miozzo, Silvia Tabano, Emanuela Veniani, Leda Paganini, Rosamaria Silipigni, Silvana Guerneri, Silvano Bosari, Maura Menghi, Manuela Caroli |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Sanger sequencing Pathology medicine.medical_specialty medicine.diagnostic_test business.industry 1p/19q Codeletion medicine.disease SNP genotyping Transplantation 03 medical and health sciences symbols.namesake 030104 developmental biology 0302 clinical medicine Oncology 030220 oncology & carcinogenesis Glioma medicine symbols business Genotyping Fluorescence in situ hybridization Comparative genomic hybridization |
| Zdroj: | Oncotarget. 8:57134-57148 |
| ISSN: | 1949-2553 |
| Popis: | // Chiara Pesenti 1, 2 , Leda Paganini 1, 2 , Laura Fontana 1 , Emanuela Veniani 2 , Letterio Runza 2 , Stefano Ferrero 2, 3 , Silvano Bosari 1, 2 , Maura Menghi 4 , Giovanni Marfia 5, 6 , Manuela Caroli 6 , Rosamaria Silipigni 7 , Silvana Guerneri 7 , Silvia Tabano 1 and Monica Miozzo 1, 2 1 Department of Pathophysiology and Transplantation, Universita degli Studi di Milano, Milan, Italy 2 Division of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy 3 Department of Biomedical, Surgical and Dental Sciences, Universita degli Studi di Milano, Milan, Italy 4 Diatech Pharmacogenetics, Jesi, Italy 5 Laboratory of Experimental Neurosurgery and Cell Therapy, Neurosurgery Unit, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy 6 Neurosurgery Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy 7 Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy Correspondence to: Silvia Tabano, email: silvia.tabano@unimi.it Keywords: glioma, 1p/19q LOH, massARRAY, IDH, TERT Received: March 13, 2017 Accepted: June 19, 2017 Published: July 08, 2017 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. |
| Databáze: | OpenAIRE |
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