Abstract
BackgroundMethylation-associated SOX family genes have been proved to be involved in multiple essential processes during carcinogenesis and act as potential biomarkers for cancer diagnosis, staging, prediction of prognosis, and monitoring of response to therapy. Herein, we revealed SOX30 methylation and its clinical implication in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).ResultsIn the discovery stage, we identified that SOX30 methylation, a frequent event in AML, was negatively associated with SOX30 expression and correlated with overall survival (OS) and leukemia-free survival (LFS) in cytogenetically normal AML among SOX family members from The Cancer Genome Atlas (TCGA) datasets. In the validation stage, we verified that SOX30 methylation level was significantly higher in AML even in MDS-derived AML compared to controls, whereas SOX30 hypermethylation was not a frequent event in MDS. SOX30 methylation was inversely correlated with SOX30 expression in AML patients. Survival analysis showed that SOX30 hypermethylation was negatively associated with complete remission (CR), OS, and LFS in AML, where it only affected LFS in MDS. Notably, among MDS/AML paired patients, SOX30 methylation level was significantly increased in AML stage than in MDS stage. In addition, SOX30 methylation was found to be significantly decreased in AML achieved CR when compared to diagnosis time and markedly increased in relapsed AML when compared to the CR population.ConclusionsOur findings revealed that SOX30 methylation was associated with disease progression in MDS and acted as an independent prognostic and predictive biomarker in AML.
Highlights
Methylation-associated SOX family genes have been proved to be involved in multiple essential processes during carcinogenesis and act as potential biomarkers for cancer diagnosis, staging, prediction of prognosis, and monitoring of response to therapy
The prognostic value of SOX30 methylation for survival (OS and leukemia-free survival (LFS)) was Identification of methylation-dependent SOX gene associated with prognosis in acute myeloid leukemia (AML) For initial selection of prognostic relevant methylation of SOX genes, we analyzed 19 members of SOX gene family by utilizing The Cancer Genome Atlas (TCGA) data
SOX30 methylation level was significantly increased in AML stage than in myelodysplastic syndromes (MDS) stage among all the paired patients (Fig. 3g)
Summary
Methylation-associated SOX family genes have been proved to be involved in multiple essential processes during carcinogenesis and act as potential biomarkers for cancer diagnosis, staging, prediction of prognosis, and monitoring of response to therapy. We revealed SOX30 methylation and its clinical implication in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). Aberrant methylation in cancer-related genes acts as potential biomarkers for diagnosis, staging, prediction of prognosis, and monitoring of response to therapy [7]. As for myeloid malignancies, studies showed that aberrant DNA methylation was a dominant mechanism in MDS progression to AML [8]. Our previous investigation revealed that epigenetic dysregulation of ID4, which exhibited anti-proliferation and pro-apoptosis effects in leukemia cells, and predicted disease progression and treatment outcome in myeloid malignancies [9]
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