A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia

From the Bone Marrow Transplant Unit, University Hospital of Hamburg-Eppendorf, Hamburg, Germany (UB); MLL, Munich Leukemia Laboratory, Munich, Germany (TH, WK, CH, SS) Correspondence: Susanne Schnittger, MLL, Munich Leukemia Laboratory, Max-Lebsche-Platz 31 81377 Munich, Germany. E-mail: susanne.sc...

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Bibliographic Details
Published in:Haematologica (Roma) 2007-06, Vol.92 (6), p.744-752
Main Authors: Bacher, Ulrike, Haferlach, Torsten, Kern, Wolfgang, Haferlach, Claudia, Schnittger, Susanne
Format: Article
Language:English
Subjects:
Acute Disease
Biological and medical sciences
Disease Progression
fms-Like Tyrosine Kinase 3 - genetics
Gene Frequency
Hematologic and hematopoietic diseases
Histone-Lysine N-Methyltransferase
Humans
Leukemia, Myeloid - diagnosis
Leukemia, Myeloid - genetics
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Medical sciences
Molecular Epidemiology
Mutation
Myelodysplastic Syndromes - diagnosis
Myelodysplastic Syndromes - genetics
Myeloid-Lymphoid Leukemia Protein - genetics
Proto-Oncogene Proteins c-kit - genetics
ras Proteins - genetics
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Summary:From the Bone Marrow Transplant Unit, University Hospital of Hamburg-Eppendorf, Hamburg, Germany (UB); MLL, Munich Leukemia Laboratory, Munich, Germany (TH, WK, CH, SS) Correspondence: Susanne Schnittger, MLL, Munich Leukemia Laboratory, Max-Lebsche-Platz 31 81377 Munich, Germany. E-mail: susanne.schnittger{at}mll-online.com Background and Objectives: The precise relationship between myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) is unclear and the role of molecular mutations in leukemic transformation in MDS is controversial. The aim of this study was to clarify the relationship between AML and MDS by comparing the frequency of molecular mutations in the two conditions. Design and Methods: We compared the frequency of FLT3 -length mutations ( FLT3 -LM), FLT3 -TKD, MLL -partial tandem duplications ( MLL -PTD), NRAS , and KIT D816 in 381 patients with MDS refractory anemia with excess blasts [RAEB] n=49; with ringed sideroblasts [RARS] n=310; chronic monomyelocytic leukemia [CMML] n=22) and in 4130 patients with AML ( de novo : n=3139; secondary AML [s-AML] following MDS: n=397; therapy-related [t-AML]: n=233; relapsed: n=361). Results: All mutations were more frequent in s-AML than in MDS and all but the FLT3 -TKD were more frequent in RAEB than in RA/RARS. The higher incidences in s-AML were significant for FLT3 -TKD ( p =0.032), MLL -PTD ( p =0.034), and FLT3 -LM (RA/RARS: 0/45; RAEB: 8/293; 2.7%; s-AML: 45/389; 11.6%; p
ISSN:0390-6078
1592-8721
DOI:10.3324/haematol.10869