The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate-Dehydrogenase-mutant Glioma/Izositrat Dehidrojenaz-mutant Gliomada Alfa-talasemi/Mental Retardasyon X'e Bagli Mutasyonunun Histopatolojik Derecelendirmeyle Iliskisi

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 Keywords: Glioma, alpha-thalassemia X-linked intellectual disability, immunohistochemistry, grading, isocitrate dehydrogenase mutant Gliomalar merkezi sinir sisteminin en sik gorulen maligniteleridir. Gliomagenezde yer alan bazi molekuler profiler; izositrat dehidrojenaz (IDH) ve alfa talasemi/mental retardasyon X'e (ATRX) baglidir. ATRX genindeki aktif olmayan mutasyonlar, alternatif telomer uzatma yolu araciligiyla tumor olusumuyla iliskilidir ve IDH ve TP53 mutasyonuyla iliskilidir. Bu calismada IDH-mutant gliomalarda ATRX mutasyonu ile histopatolojik derecelendirme arasindaki iliskinin belirlenmesi amaclandi. Bu, Ocak 2017'den Mart 2022'ye kadar Sardjito Genel Hastanesi'nden formalinde fikse edilmis parafine gomulu dokular kullanilarak IDH-mutant olan gliomali hastalarda yapilan kesitsel bir calismadir. IDH-mutant durumu ve ATRX mutasyonu sirasiyla, polimeraz zincirleme reaksiyonu dizileme incelemesi ve immunohistokimya analizi ile belirlendi. ATRX mutasyonu ile histopatolojik derecelendirme arasindaki iliski ki-kare kullanilarak test edil