A Targeted Next-Generation Sequencing Panel to Genotype Gliomas

被引：4
|
作者：
Guarnaccia, Maria [1 ]
Guarnaccia, Laura [2 ,3 ]
La Cognata, Valentina [1 ]
Navone, Stefania Elena [2 ]
Campanella, Rolando [2 ]
Ampollini, Antonella [2 ]
Locatelli, Marco [2 ,4 ,5 ]
Miozzo, Monica [6 ,7 ]
Marfia, Giovanni [2 ,8 ]
Cavallaro, Sebastiano [1 ]
机构：
[1] CNR, Inst Biomed Res & Innovat, Via P Gaifami 18, I-95126 Catania, Italy
[2] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neurosurg Unit, Lab Expt Neurosurg & Cell Therapy, Via Francesco Sforza 35, I-20122 Milan, Italy
[3] Univ Milan, Dept Clin Sci & Community Hlth, Via Festa Perdono 7, I-20122 Milan, Italy
[4] Aldo Ravelli Res Ctr, Via Antonio Rudini 8, I-20142 Milan, Italy
[5] Univ Milan, Dept Med Surg Physiopathol & Transplantat, Via Francesco Sforza 35, I-20122 Milan, Italy
[6] Univ Milan, Dept Hlth Sci, I-20122 Milan, Italy
[7] ASST Santi Paolo & Carlo, Unit Med Genet, I-20142 Milan, Italy
[8] Italian Air Force, Clin Pathol Unit, Aerosp Med Inst A Mosso, Viale Aviazione 1, I-20138 Milan, Italy
来源：
LIFE-BASEL | 2022年 / 12卷 / 07期
关键词：
glioblastoma; glioma; targeted sequencing; precision medicine; genomics; ISOCITRATE DEHYDROGENASE 1; MOLECULAR DIAGNOSIS; MUTATIONS; CANCER; MUTANT; PDGFRA; IDH1; CLASSIFICATION; ABNORMALITIES; GLIOBLASTOMAS;
D O I：
10.3390/life12070956
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Gliomas account for the majority of primary brain tumors. Glioblastoma is the most common and malignant type. Based on their extreme molecular heterogeneity, molecular markers can be used to classify gliomas and stratify patients into diagnostic, prognostic, and therapeutic clusters. In this work, we developed and validated a targeted next-generation sequencing (NGS) approach to analyze variants or chromosomal aberrations correlated with tumorigenesis and response to treatment in gliomas. Our targeted NGS analysis covered 13 glioma-related genes (ACVR1, ATRX, BRAF, CDKN2A, EGFR, H3F3A, HIST1H3B, HIST1H3C, IDH1, IDH2, P53, PDGFRA, PTEN), a 125 bp region of the TERT promoter, and 54 single nucleotide polymorphisms (SNPs) along chromosomes 1 and 19 for reliable assessment of their copy number alterations (CNAs). Our targeted NGS approach provided a portrait of gliomas' molecular heterogeneity with high accuracy, specificity, and sensitivity in a single workflow, enabling the detection of variants associated with unfavorable outcomes, disease progression, and drug resistance. These preliminary results support its use in routine diagnostic neuropathology.
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页数：18
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