SCIENTIFIC BACKGROUND

ATRX, BRAF, CDKN2A, CIC, CTNNB1, EGFR, FGFR3, FUBP1, H3F3A, IDH1, IDH2, MET, MYC, MYCN, NF1, NTRK1, NTRK2, NTRK3, POLE, PTEN, TERT, TP53, 1p/19q codeletion

Category:

Scientific Background

The ForeSENTIA Glioma panel tests for single nucleotide variants, insertions, deletions, copy number alterations, and rearrangements in 22 genes which are commonly found in gliomas. Glioma is a type of brain tumor that starts from the glial cells, and they account for about 30% of all primary brain and central nervous system (CNS) tumors. In 2020 more than 300,000 people were diagnosed with brain and CNS tumors worldwide. There are different types of gliomas – such as glioblastoma, an aggressive brain tumor. Studies have shown that glioma can be caused by different factors such as environmental and inheritance. Different mutations have been identified in genes such as IDH1, IDH2, TP53, and others and can be responsible for cancer initiation and development.

 

1p/19q codeletion is also tested in this panel and reported only in the context of glioma diagnosis. This is a genetic loss in which the short arm of chromosome 1 is deleted along with the long arm of chromosome 19. It is considered a prognostic biomarker predictive for therapy response. Indeed, it has been found that patients with this codeletion have improved prognosis and overall survival after treatment.

 

Microsatellite instability (MSI) immunotherapy biomarker can optionally be tested in this panel. MSI has also been detected in patients with glioma and can be tested in this panel.

 

Recommendations by professional bodies:

ESMO recommends MSI testing for glioblastoma patients (Luchini et al., 2019)

 

References and more information: 

Luchini C, Bibeau F, Ligtenberg MJL, Singh N, Nottegar A, Bosse T, Miller R, Riaz N, Douillard JY, Andre F, Scarpa A. ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. Ann Oncol. 2019 Aug 1;30(8):1232-1243. doi: 10.1093/annonc/mdz116. PMID: 31056702.

Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209–49.

Kim D, Wang N, Ravikumar V, Raghuram DR, Li J, Patel A, Wendt RE 3rd, Rao G, Rao A. Prediction of 1p/19q Codeletion in Diffuse Glioma Patients Using Pre-operative Multiparametric Magnetic Resonance Imaging. Front Comput Neurosci. 2019 Jul 30;13:52. doi: 10.3389/fncom.2019.00052. PMID: 31417387; PMCID: PMC6682685.

GENES

ATRX, BRAF, CDKN2A, CIC, CTNNB1, EGFR, FGFR3, FUBP1, H3F3A, IDH1, IDH2, MET, MYC, MYCN, NF1, NTRK1, NTRK2, NTRK3, POLE, PTEN, TERT, TP53, 1p/19q codeletion
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