Rare mutations in DNMT3A in myeloproliferative neoplasms and myelodysplastic syndromes

J Adélaïde,V Gelsi-Boyer,M Chaffanet,N Cervera,M Brecqueville,D Birnbaum,J Rey,M J Mozziconacci,A Murati,N Vey

doi:10.1038/bcj.2011.15

Abstract

Rare mutations in DNMT3A in myeloproliferative neoplasms and myelodysplastic syndromes

Highlights

In myelodysplastic syndrome (MDS), we found 12 mutations and 1 deletion of TET2, 5 mutations of isocitrate dehydrogenase 1 (IDH1)/2, and 4 mutations (6%) and 1 deletion of DNMT3A
In MDSs, we found 12 mutations and 1 deletion of TET2, 5 mutations of IDH1/2, and 4 mutations (6%) and 1 deletion of DNMT3A
DNMT3A mutations were very recently reported in two series of MDSs, including 62 RAEB cases6 and 150 cases of various subclasses

Summary

Introduction

In MDSs, we found 12 mutations and 1 deletion of TET2 (all heterozygous), 5 mutations of IDH1/2, and 4 mutations (6%) and 1 deletion of DNMT3A (all heterozygous) (see Table 1). Mutations in TET2, IDH1/2 and DNMT3A were all mutually exclusive. The 4 DNMT3A-mutated cases were 1 RA and 3 RARS.

Results

Conclusion