RT Journal Article SR Electronic T1 Absence of NPM1 promoter hypermethylation in human myelodysplastic syndrome JF Journal of Clinical Pathology JO J Clin Pathol FD BMJ Publishing Group Ltd and Association of Clinical Pathologists SP 1008 OP 1011 DO 10.1136/jcp.2010.080465 VO 63 IS 11 A1 Cheng, Yuen-Yee A1 Chau, David A1 Chan, Thomas A1 Gill, Harinder A1 Liang, Raymond A1 Kwong, Yok-Lam A1 Tse, Eric YR 2010 UL http://jcp.bmj.com/content/63/11/1008.abstract AB Npm1+/− heterozygous mice develop a haematological disorder with features resembling human myelodysplastic syndrome (MDS). Promoter hypermethylation of the NPM1 gene may lead to suppressed gene transcription and hence functional haploinsufficiency, which contributes to the development of MDS. Thirty-one patients with MDS and eight normal individuals were studied for promoter methylation and mRNA expression of NPM1. Methylation-specific PCR (MSP), COBRA and bisulfite sequencing were used to examine the NPM1 methylation status. Quantitative PCR was used to assess the expression of NPM1. NPM1 DNA methylation was rare, occurring in one of 31 cases as determined by MSP. There was no significant difference in NPM1 mRNA expression between MDS and normal blood samples. In conclusion, the finding suggests that NPM1 methylation is rare in MDS and does not play a major role in its pathogenesis.