Molecular testing of gliomas

Kód výsledku v 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>

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

Molecular testing of gliomas

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Molecular testing of gliomas

Popis výsledku anglicky

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.

Druh

O - Ostatní výsledky

CEP obor

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OECD FORD obor

30101 - Human genetics

Projekt

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Návaznosti

S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2018

Kód důvěrnosti údajů

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