The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate-Dehydrogenase-mutant Glioma; İzositrat Dehidrojenaz-mutant Gliomada Alfa-talasemi/Mental Retardasyon X’e Bağlı Mutasyonunun Histopatolojik Derecelendirmeyle İlişkisi

Anindita, Alva Sinung and Malueka, Rusdy Ghazali and Hartanto, Rachmat Andi and Krisnugraha, Yeshua Putra and Cempaka, Rita and Dwianingsih, Ery Kus (2023) The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate-Dehydrogenase-mutant Glioma; İzositrat Dehidrojenaz-mutant Gliomada Alfa-talasemi/Mental Retardasyon X’e Bağlı Mutasyonunun Histopatolojik Derecelendirmeyle İlişkisi. Turk Noroloji Dergisi, 29 (4). 302 - 308. ISSN 1301062X

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Abstract

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. © 2023 by the Turkish Neurological Society / Turkish Journal of Neurology published by Galenos Publishing House.

Item Type: Article
Additional Information: Cited by: 0; All Open Access, Gold Open Access
Uncontrolled Keywords: isocitrate dehydrogenase; transcriptional regulator ATRX; adult; aged; alpha thalassemia; Article; cancer grading; cross-sectional study; female; glioma; histopathology; human; immune response; immunohistochemistry; intellectual impairment; major clinical study; male; polymerase chain reaction
Subjects: R Medicine > RA Public aspects of medicine > RA0421 Public health. Hygiene. Preventive Medicine
Divisions: Faculty of Medicine, Public Health and Nursing > Public Health and Nutrition
Depositing User: Mukhotib Mukhotib
Date Deposited: 20 May 2024 03:30
Last Modified: 20 May 2024 03:30
URI: https://ir.lib.ugm.ac.id/id/eprint/1285

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