Quantitative Detection of ID4 Gene Aberrant Methylation in the Differentiation of Myelodysplastic Syndrome from Aplastic Anemia

• Published in: Chinese medical journal 2015-08, Vol.128 (15), p.2019-2025
• Main Authors: Li, Mian-Yang, Xu, Yuan-Yuan, Kang, Hui-Yuan, Wang, Xin-Rong, Gao, Li, Cen, Jian, Wang, Wei, Wang, Nan, Li, Yong-Hui, Wang, Li-Li, Yu, Li
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Analysis; Anemia; Anemia, Aplastic - genetics; blast; Cancer; Care and treatment; Cell cycle; Child; Chromosomes; Cloning; CpG Islands - genetics; Deoxyribonucleic acid; Diagnosis; Diagnosis; ID4 Gene; Myelodysplastic Syndrome; Methylation; Quantitative; DNA; DNA methylation; DNA Methylation - genetics; Epigenetic inheritance; Epigenetics; Female; Gene expression; Genetic testing; Health aspects; Hematology; Humans; Inhibitor of Differentiation Proteins - genetics; Kinases; Laboratories; Leukemia; Lymphoma; Male; Methylation; Middle Aged; Myelodysplastic syndromes; Myelodysplastic Syndromes - genetics; normal; Original; Polymerase chain reaction; real-time; Tumors; Young Adult; 再生障碍性贫血; 定量检测; 异常; 甲基化; 综合征
• ISSN: 0366-6999; 2542-5641
• DOI: 10.4103/0366-6999.161351

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.