International Journal of Hematology and Oncology
2025, Vol 35, Num 1 Page(s): 060-067
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Evaluation of Expression Levels of Relapse-Associated Survivin, S100A8, GPM6B, NUDT15, AURKA and CASP1 Genes at Time of Diagnosis: A Case-Control Research Study in Childhood Pre-B- Acute Lymphoblastic Leukemia
Oznur TOKTA1, Sibel BERKER KARAUZUM1, Ayse Esra MANGUOGLU1, Osman Alphan KUPESIZ2, Funda KUPESIZ2, Elif GULER2, Cigdem SIVRICE2, Ayse Nur AKINEL2, Kemal Hakan GULKESEN3
1Akdeniz University Faculty of Medicine, Department of Medical Biology and Genetics
2Akdeniz University Faculty of Medicine, Department of Pediatric Hematology and Oncology
3Akdeniz University Faculty of Medicine, Department of Biostatistics and Medical Informatics
Keywords: Pediatric B-ALL, qRT-PCR, Survivin, CASP1, AURKA
Childhood pre-B acute lymphoblastic leukemia (pre-B-ALL) can be identified through routine genetic diagnostic methods in approximately 70-75% of cases. However, in 20-25% of cases, genetic abnormalities remain undetected at diagnosis, complicating the prediction of relapse risk, treatment response, and therapy-related cytotoxicity. Identifying reliable biomarkers is crucial for early diagnosis and optimized treatment strategies. Bone marrow samples were collected from 15 pediatric pre-B-ALL patients and 5 healthy child donors. Following cDNA synthesis, mRNA expression levels of AURKA, CASP1, GPM6B, NUDT15, S100A8, and Survivin genes were analyzed using qRT-PCR. AURKA, CASP1, and Survivin genes showed significantly increased expression in childhood pre-B-ALL cases (p< 0.05). However, no significant difference was observed for GPM6B, NUDT15, and S100A8. Kaplan-Meier analysis revealed no correlation between gene expression levels and relapse time. Spearman’s rho test showed a strong positive correlation between AURKA and Survivin expression (p< 0.0001). AURKA and Survivin overexpression are significantly correlated and may serve as potential biomarkers for predicting relapse in pediatric pre-B-ALL. CASP1 overexpression may indicate glucocorticoid resistance, potentially affecting treatment response; GPM6B, NUDT15, and S100A8 did not show significant relationships with relapse. Further validation in larger cohorts is required. Protein-level studies are needed to confirm the functional significance of these gene expression changes.
Oznur TOKTA1, Sibel BERKER KARAUZUM1, Ayse Esra MANGUOGLU1, Osman Alphan KUPESIZ2, Funda KUPESIZ2, Elif GULER2, Cigdem SIVRICE2, Ayse Nur AKINEL2, Kemal Hakan GULKESEN3
1Akdeniz University Faculty of Medicine, Department of Medical Biology and Genetics
2Akdeniz University Faculty of Medicine, Department of Pediatric Hematology and Oncology
3Akdeniz University Faculty of Medicine, Department of Biostatistics and Medical Informatics
Keywords: Pediatric B-ALL, qRT-PCR, Survivin, CASP1, AURKA
Childhood pre-B acute lymphoblastic leukemia (pre-B-ALL) can be identified through routine genetic diagnostic methods in approximately 70-75% of cases. However, in 20-25% of cases, genetic abnormalities remain undetected at diagnosis, complicating the prediction of relapse risk, treatment response, and therapy-related cytotoxicity. Identifying reliable biomarkers is crucial for early diagnosis and optimized treatment strategies. Bone marrow samples were collected from 15 pediatric pre-B-ALL patients and 5 healthy child donors. Following cDNA synthesis, mRNA expression levels of AURKA, CASP1, GPM6B, NUDT15, S100A8, and Survivin genes were analyzed using qRT-PCR. AURKA, CASP1, and Survivin genes showed significantly increased expression in childhood pre-B-ALL cases (p< 0.05). However, no significant difference was observed for GPM6B, NUDT15, and S100A8. Kaplan-Meier analysis revealed no correlation between gene expression levels and relapse time. Spearman’s rho test showed a strong positive correlation between AURKA and Survivin expression (p< 0.0001). AURKA and Survivin overexpression are significantly correlated and may serve as potential biomarkers for predicting relapse in pediatric pre-B-ALL. CASP1 overexpression may indicate glucocorticoid resistance, potentially affecting treatment response; GPM6B, NUDT15, and S100A8 did not show significant relationships with relapse. Further validation in larger cohorts is required. Protein-level studies are needed to confirm the functional significance of these gene expression changes.
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