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Typ záznamu
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stať ve sborníku (D)
Domácí pracoviště
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Ústav laboratorní medicíny (11430)
Název
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Molecular testing of gliomas
Citace :
Urbanovská, I. a Dvořáčková, J. Molecular testing of gliomas.
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Podnázev :
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2018
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Onkologie a hematologie
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Typ akce podle státní
příslušnosti účastníků akce
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Klíčová slova anglicky
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GliomasMolecular testing
Popis v původním jazyce
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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 primermethod–SnaPshotVR assay.MGMTgenepromotermethylationstatuswas 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 classi- fied 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 < 0.001 and p < 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
Popis v anglickém jazyce
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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 primermethod–SnaPshotVR assay.MGMTgenepromotermethylationstatuswas 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 classi- fied 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 < 0.001 and p < 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
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Institucionální podpora na rozvoj výzkumné organizace
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