Background：The diagnosis of myelodysplastic syndrome （MDS）,especially hypoplastic MDS,and MDS with low blast counts or normal karyotype may be problematic.This study characterized ID4 gene methylation in patients w...Background：The diagnosis of myelodysplastic syndrome （MDS）,especially hypoplastic MDS,and MDS with low blast counts or normal karyotype may be problematic.This study characterized ID4 gene methylation in patients with MDS and aplastic anemia （AA）.Methods：The methylation status ofID4 was analyzed by bisulfite sequencing polymerase chain reaction （PCR） and quantitative real-time methylation-specific PCR （MethyLight PCR） in 100 patients with MDS and 31 patients with AA.Results：The MDS group had a higher ID4 gene methylation positivity rate （22.22%） and higher methylation levels （0.21 [0-3.79]） than the AA group （P 〈 0.05）.Furthermore,there were significant differences between the hypoplastic MDS and AA groups,the MDS with low blast count and the AA groups,and the MDS with normal karyotype and the AA groups.The combination of genetic and epigenetic markers was used in much more patients with MDS （62.5% [35/56]） than the use of genetic markers only （51.79% [29/56]）.Conclusions：These results showed that the detection ofID4 methylation positivity rates and levels could be a useful biomarker for MDS diagnosis.展开更多
基金This work was supported by grants from the National Basic Research Program of China （2005CB522400）, National Natural Science Foundation of China （90919044, 30971297, and 81000221 ）, and National Key Scientific Instrument and Equipment Development Projects （2012YQ03026107）. ACKNOWLEDGMENTS We thank Xu-Feng Luo, Jing-Xin Li, Xiao-Ning Gao, Li-Ping Dou, Yuan-Yuan Xu, and Yi Ding for discussion and technical assistance.
文摘Background：The diagnosis of myelodysplastic syndrome （MDS）,especially hypoplastic MDS,and MDS with low blast counts or normal karyotype may be problematic.This study characterized ID4 gene methylation in patients with MDS and aplastic anemia （AA）.Methods：The methylation status ofID4 was analyzed by bisulfite sequencing polymerase chain reaction （PCR） and quantitative real-time methylation-specific PCR （MethyLight PCR） in 100 patients with MDS and 31 patients with AA.Results：The MDS group had a higher ID4 gene methylation positivity rate （22.22%） and higher methylation levels （0.21 [0-3.79]） than the AA group （P 〈 0.05）.Furthermore,there were significant differences between the hypoplastic MDS and AA groups,the MDS with low blast count and the AA groups,and the MDS with normal karyotype and the AA groups.The combination of genetic and epigenetic markers was used in much more patients with MDS （62.5% [35/56]） than the use of genetic markers only （51.79% [29/56]）.Conclusions：These results showed that the detection ofID4 methylation positivity rates and levels could be a useful biomarker for MDS diagnosis.
