EGFRvIII expression and isocitrate dehydrogenase mutations in patients with glioma

Oncology Letters
Mohiuddin M TaherKristoffer Valerie

Abstract

Molecular pathology and personalized medicine are still being evolved in Saudi Arabia, and genetic testing for the detection of mutations as cancer markers have not been established in the diagnostics laboratories in Saudi Arabia. The aim of the present study was to determine the prevalence of isocitrate dehydrogenase (IDH1 and IDH2) mutations and epidermal growth factor receptor variant (EGFRv)III transcript expression in Saudi Arabian patients with glioma. Out of 117 brain tumors tested by reverse transcription-quantitative PCR for EGFRvIII, 41 cases tested positive. In the glioblastoma (GBM) category, 28/55 tumors were positive, in astrocytoma tumors 5/22, and in oligodendrogliomas 4/13 cases were positive respectively. EGFRvIII transcript was sequenced by capillary electrophoresis to demonstrate the presence of EGFRvIII-specific junction where exons 2-7 were deleted. In the present study 106 tumors were sequenced for IDH1 exon-4 mutations using the capillary sequencing method. The most common substitution missense mutation c.395G>A was found in 16 tumors. In the case of adamantinomatous craniopharyngioma, a novel missense mutation in c.472C>T was detected in IDH2 gene. Using next-generation sequencing (NGS), 74 tumors were ...Continue Reading

Citations

Aug 7, 2021·Biomedicines·Alisan KayabolenTugba Bagci-Onder

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BETA
PCR
biopsy
electrophoresis
chip
Hi-Q

Software Mentioned

Ion
BigDye
Ion Reporter
[UNK] Variant Caller
Ion Torrent Suite
Torrent Suite
Primer Blast

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