Scanning the SRSF2 gene mutations in acute myeloid leukemia by using high-resolution melting analysis / 实用医学杂志

Objective To study the SRSF2 mutations in acute myeloid leukemia (AML) patients by using high-resolution melting analysis (HRMA). Methods PCR-HRMA analysis was performed to screen SRSF2 mutations in 140 cases with AML, and the direct DNA sequencing was used to confirm the HRMA results. Results Five percent (7/140) of AML patients were found with heterozygous SRSF2 mutations, including one case of P95R mutation, two case of P95L mutation, and four cases of P95H mutation, the above mutations were confirmed by direct DNA sequencing. The maximal sensitivity of HRMA in detecting SRSF2 mutation was close to 10%. There were no difference in gender, age and blood parameters among cases with or without SRSF2 mutations (P > 0.05). The overall survival (OS) of patients with SRSF2 mutations was inferior to those without SRSF2 mutations in AML patients (P=0.016). Conclusions HRMA analysis was a convenient, rapid, specific, high-throughput technique for scanning of SRSF2 gene mutations in AML patients. SRSF2 mutation may predict the adverse prognosis in AML patients.

Methylation situation of let-7a-3 in chronic myeloid leukemia and its clinical significance / 重庆医学

Objective To investigate the methylation situation of let‐7a‐3 promoter in patients with chronic myeloid leukemia (CML) and its clinical significance .Methods The methylation level of let‐7a‐3 promoter in the bone marrow mononuclear cells of 52 CML patients and 25 controls was detected by using the real‐time quantitative methylation‐specific PCR (RQ‐PCR) .Results The non-hypomethylation of let‐7a‐3 promoter was positive in 31 cases(59 .6% ) of 52 CML patients ,while only 1 case(4% ,1/25) in the control group ,the difference between the two groups were statistically significant (P0 .05) .The non-hypomethylation level of let‐7a‐3 in chronic phase and accel‐erate phase was significantly higher than that in blastic crisis of CML .Conclusion The hypomethylation level of let‐7a‐3 promoter is decreased with disease progression .

Clinical study on expression and methylation of SOX17 gene in chronic myeloid leukemia / 实用医学杂志

Objective To investigate the expression level and promoter methylation of SOX17 gene and the clinical correlations in Chinese patients with chronic myeloid leukemia ( CML ) . Methods The levels of SOX17 expression and methylation were detected by RQ-PCR and RQ-MSP. Results SOX17 expression level was significantly lower in CML compared with 30 controls (P=0.001). The area under the receiver operating characteristic (ROC) curve (AUC) was 0.748 to differentiate CML from control (P=0.001). There was a trend of correlation between SOX17 expression and bcr/abl transcript (r = 0.439,P = 0.068) in CML patients. Hypermethylation of SOX17 promoter was detected in 3 (4%) CML patients, however, there was no difference as compared with 32 controls. In our study, SOX17 hypermethylation was not corrected with its expression. Conclusion Decreased SOX17 expression is a common molecular event in CML and may be considered as an available biomarker to diagnose CML. Dysregulated SOX17 is not caused by promoter hypermethylation in CML.