Molecular testing of gliomas

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989100%3A27640%2F18%3A10239930" target="_blank" >RIV/61989100:27640/18:10239930 - isvavai.cz</a>

Result on the web

<a href="https://academic.oup.com/annonc/article/29/suppl_6/mdy314.033/5098098" target="_blank" >https://academic.oup.com/annonc/article/29/suppl_6/mdy314.033/5098098</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Molecular testing of gliomas

Original language description

Background: Gliomas are the most frequent CNS primary tumours, which account for up to 80 % of brain malignancies. Important diagnostic and prognostic factor, and recently significant WHO glioma classification marker as well, is mutational status of IDH1/2 genes. Moreover, search for another markers with predictive character is needed. Methylation status of MGMT gene promoter is one of relevant predictive markers, connected with therapeutic response to chemotherapy. Methods: 260 glioma samples were biopted or surgically resected at Neurosurgery Clinics within Moravian - Silesian Region, Czech Republic. DNA was extracted from native tissue samples. IDH1/2 gene mutation detection was performed with extension primer method - SnaPshotVR assay. MGMT gene promoter methylation status was tested by nested methylation-specific PCR and real-time PCR, preceded by bisulfite conversion of DNA samples. Results: Analysis of 260 glioma samples was performed. Out of this, 218 samples were histopatologically diagnosed as high-grade (HG) gliomas and 42 samples were classified as low-grade (LG) gliomas. Median age of all patients was 60 years (range 24 - 82 years) at the time of diagnosis. 55 % of patients were men. IDH1 gene mutations were detected in 29, 2 % (76/260) of patients, MGMT gene promoter methylation was detected in 60, 8 % (158/260) of patients. IDH2 gene mutations were not detected. Median overall survival (mOS) was 9 months longer in patients with HG glioma and IDH1 gene mutation than in patients without mutation. If complete set of HG and LG gliomas was included, 11 months difference of mOS has been reached. Furthermore, statistically significant difference of mOS among the group of patients with IDH1 gene mutations and without mutations has been reached (p value &lt; 0.001 and p &lt; 0.001, respectively). Conclusions: Observed relationship of IDH1 gene occurrence to median OS in patients with primary glioma was statistically significant. MGMT gene promoter methylation did not have any statistically significant influence to OS in observed HG glioma patients.

Czech name

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Czech description

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Type

O - Miscellaneous

CEP classification

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OECD FORD branch

30101 - Human genetics

Project

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Continuities

S - Specificky vyzkum na vysokych skolach

Publication year

2018

Confidentiality

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