Detection of IDH1 and IDH2 somatic mutations in brain tumors by denaturing capillary electrophoresis (DCE)

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F26475821%3A_____%2F15%3AN0000004" target="_blank" >RIV/26475821:_____/15:N0000004 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Detection of IDH1 and IDH2 somatic mutations in brain tumors by denaturing capillary electrophoresis (DCE)

Original language description

Poster at Helsinki ITP2015: Malignant gliomas representing the most frequent type of brain cancer are among the worse in prognosis among solid cancers. The most critical are high grade glioblastomas exhibiting high malignancy whose median of survival is typically between 12 and 24 months from diagnosis. Malignant transformation is frequently supplemented by somatic mutations in Isocitrate dehydrogenase 1 and 2 genes (IDH1, IDH2), both involved in energy metabolism . It has recently emerged that IDH1/2 mutations are associated with prolonged survival and should be used as prognostic factor in management of brain cancer patients . There are several approaches currently in use for the detection of IDH1/2 mutations including allele-specific PCR, high-resolution melting and MLPA . While currently often used in clinical settings, these techniques exhibit various shortcomings including complex protocols (multiple pipetting steps required), high sample demand (amounts of input DNA required) and long processing time. A simple and rapid method would therefore be highly desired. Aims: To develop IDH1/2 mutation detection assay using denaturing capillary electrophoresis approach and perform a validation against a reference technology that is currently in use. Results: Following optimization steps a total of 61 tumor samples were examined revealing IDH1 mutation in 20 cases (32.7%), IDH2 mutation in 1 case (1.6%) and MGMT promotor methylation in 27 cases (44.2%). There was a 100% concordance in IDH1/2 mutation results between the newly developed DCE approach and MLPA. Conclusions: A combination of fragment analysis and denaturing CE modes is suitable for molecular testing of brain gliomas easily implementable in clinical oncology practice.

Czech name

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Czech description

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Type

O - Miscellaneous

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NT14253" target="_blank" >NT14253: Epigenetic markers influencing the behavior of brain tumors</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2015

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů