The Association of Alpha-thalassemia X-Linked Intellectual Disability Mutation with Histopathological Grading in Isocitrate- Dehydrogenase-mutant Glioma
Alva Sinung Anindita1
, Rusdy Ghazali Malueka2, Rachmat Andi Hartanto3, Yeshua Putra Krisnugraha2, Rita Cempaka1, Ery Kus Dwianingsih1
1Gadjah Mada University Faculty of Medicine, Department of Anatomical Pathology, Public Health and Nursing, Yogyakarta, Indonesia
2Gadjah Mada University Faculty of Medicine, Department of Neurology, Public Health and Nursing, Yogyakarta, Indonesia
3Gadjah Mada University Faculty of Medicine, Department of Surgery, Division of Neurosurgery, Public Health and Nursing, Yogyakarta, Indonesia
Keywords: Glioma, alpha-thalassemia X-linked intellectual disability, immunohistochemistry, grading, isocitrate dehydrogenase mutant
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.
Ethical eligibility approval was obtained from the Faculty of Medicine Ethics Committee, Gadjah Mada University (number KE/FK/0540/EC 2022).
Informed consent was taken from all participants.
Externally and internally peer-reviewed.
Surgical and Medical Practices: R.G.M., R.A.H., R.C., Concept: E.K.D., R.G.M., R.A.H., Design: E.K.D., R.G.M., Data Collection or Processing: E.K.D., R.C., A.S.A., Analysis or Interpretation: E.K.D., A.S.A., Literature Search: E.K.D., A.S.A., Writing: E.K.D., A.S.A., Y.P.K.
No conflict of interest was declared by the authors.
The authors declared that this study received no financial support.