The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant Glioma
Gliomas are the most common malignancies of the central nervous system. Two molecular profiles involved in gliomagenesis are isocitrate dehydrogenase (IDH) and alpha-thalassemia X-linked intellectual disability (ATRX). Inactive mutations in the ATRX gene are associated with tumorigenesis via the alt...
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| Format: | Article |
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Galenos Yayinevi
2023-12-01
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| Series: | Türk Nöroloji Dergisi |
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| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-17837 |
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| author | Alva Sinung Anindita Rusdy Ghazali Malueka Rachmat Andi Hartanto Yeshua Putra Krisnugraha Rita Cempaka Ery Kus Dwianingsih |
| author_facet | Alva Sinung Anindita Rusdy Ghazali Malueka Rachmat Andi Hartanto Yeshua Putra Krisnugraha Rita Cempaka Ery Kus Dwianingsih |
| author_sort | Alva Sinung Anindita |
| collection | DOAJ |
| description | Gliomas are the most common malignancies of the central nervous system. Two molecular profiles involved in gliomagenesis are isocitrate dehydrogenase (IDH) and alpha-thalassemia X-linked intellectual disability (ATRX). Inactive mutations in the ATRX gene are associated with tumorigenesis via the alternative telomere lengthening pathway as well as with IDH and tumor protein p53 mutation. The present study aims to determine the relationship between ATRX mutation and histopathological grading in IDH-mutant gliomas. This is a cross-sectional study using formalin-fixed paraffin-embedded blocks to examine the data of patients with an IDH-mutant glioma admitted to the Sardjito General Hospital between January 2017 and March 2022. The IDH-mutant status and ATRX mutation were determined via a polymerase chain reaction-sequencing examination and immunohistochemistry analysis. The association between ATRX mutation and histopathological grading was tested using the chi-square test. A total of 39 glioma samples from patients with IDH-mutant status were included in this study. Of these, 26 were obtained from men (66.67%). The age range of all patients was 20–66 years. A total of 19 samples (48.72%) showed immunopositivity to ATRX. The bivariate analysis revealed that ATRX mutation was not associated with histopathological grading (P > 0.05). The ATRX mutations were not associated with IDH-mutant glioma grading in the present study |
| first_indexed | 2024-03-08T15:50:30Z |
| format | Article |
| id | doaj.art-37351b187a0f4474aecd9f8e17779acc |
| institution | Directory Open Access Journal |
| issn | 1309-2545 |
| language | English |
| last_indexed | 2024-03-08T15:50:30Z |
| publishDate | 2023-12-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Nöroloji Dergisi |
| spelling | doaj.art-37351b187a0f4474aecd9f8e17779acc2024-01-09T06:07:03ZengGalenos YayineviTürk Nöroloji Dergisi1309-25452023-12-0129430230810.4274/tnd.2023.17837TJN-17837The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant GliomaAlva Sinung Anindita0Rusdy Ghazali Malueka1Rachmat Andi Hartanto2Yeshua Putra Krisnugraha3Rita Cempaka4Ery Kus Dwianingsih5Gadjah Mada University Faculty of Medicine, Department of Anatomical Pathology, Public Health and Nursing, Yogyakarta, IndonesiaGadjah Mada University Faculty of Medicine, Department of Neurology, Public Health and Nursing, Yogyakarta, IndonesiaGadjah Mada University Faculty of Medicine, Department of Surgery, Division of Neurosurgery, Public Health and Nursing, Yogyakarta, IndonesiaGadjah Mada University Faculty of Medicine, Department of Neurology, Public Health and Nursing, Yogyakarta, IndonesiaGadjah Mada University Faculty of Medicine, Department of Anatomical Pathology, Public Health and Nursing, Yogyakarta, IndonesiaGadjah Mada University Faculty of Medicine, Department of Anatomical Pathology, Public Health and Nursing, Yogyakarta, IndonesiaGliomas are the most common malignancies of the central nervous system. Two molecular profiles involved in gliomagenesis are isocitrate dehydrogenase (IDH) and alpha-thalassemia X-linked intellectual disability (ATRX). Inactive mutations in the ATRX gene are associated with tumorigenesis via the alternative telomere lengthening pathway as well as with IDH and tumor protein p53 mutation. The present study aims to determine the relationship between ATRX mutation and histopathological grading in IDH-mutant gliomas. This is a cross-sectional study using formalin-fixed paraffin-embedded blocks to examine the data of patients with an IDH-mutant glioma admitted to the Sardjito General Hospital between January 2017 and March 2022. The IDH-mutant status and ATRX mutation were determined via a polymerase chain reaction-sequencing examination and immunohistochemistry analysis. The association between ATRX mutation and histopathological grading was tested using the chi-square test. A total of 39 glioma samples from patients with IDH-mutant status were included in this study. Of these, 26 were obtained from men (66.67%). The age range of all patients was 20–66 years. A total of 19 samples (48.72%) showed immunopositivity to ATRX. The bivariate analysis revealed that ATRX mutation was not associated with histopathological grading (P > 0.05). The ATRX mutations were not associated with IDH-mutant glioma grading in the present studyhttps://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-17837gliomaalpha-thalassemia x-linked intellectual disabilityimmunohistochemistrygradingisocitrate dehydrogenase mutant |
| spellingShingle | Alva Sinung Anindita Rusdy Ghazali Malueka Rachmat Andi Hartanto Yeshua Putra Krisnugraha Rita Cempaka Ery Kus Dwianingsih The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant Glioma Türk Nöroloji Dergisi glioma alpha-thalassemia x-linked intellectual disability immunohistochemistry grading isocitrate dehydrogenase mutant |
| title | The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant Glioma |
| title_full | The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant Glioma |
| title_fullStr | The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant Glioma |
| title_full_unstemmed | The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant Glioma |
| title_short | The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant Glioma |
| title_sort | association of alpha thalassemia x linked intellectual disability mutation with histopathological grading in isocitrate dehydrogenase mutant glioma |
| topic | glioma alpha-thalassemia x-linked intellectual disability immunohistochemistry grading isocitrate dehydrogenase mutant |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-17837 |
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