急性白血病之多色分光染色體核型分析(2/2)
Other Title
NPM Mutations in de novo Acute Myeloid Leukemia: the Mutation
Occurs Much More Frequently in Adults than in Children and Is
Closely Associated with Disease Status(2/2)
Occurs Much More Frequently in Adults than in Children and Is
Closely Associated with Disease Status(2/2)
Date Issued
2005
Date
2005
Author(s)
田蕙芬
DOI
932314B002039
Abstract
NPM mutations have been found in a significant proportion of adults with de novo
acute myeloid leukemia (AML), especially in those of a normal karyotype. These
results provide a basis for studies of the pathogenesis in this specific subgroup of
AML. In this study, NPM mutations were analyzed in 173 de novo AML patients
including adults and children. We found NPM mutations were present in 19.1% of
the overall population and 40.3% of those with a normal karyotype. Adults had a
significantly higher incidence of NPM mutations than children (32/126, 25.4% vs.
1/47, 2.1%, p<0.001). NPM mutations were closely associated with normal
karyotype (p<0.001) and FLT3/ITD (p=0.002), but negatively associated with CEBPA
mutations (p=0.032) and expression of CD34 (p<0.001) and HLA-DR (p=0.003).
Serial analyses of NPM mutations showed the mutation disappeared at complete
remission, but the same mutation reappeared at relapse, except for one who lost the
mutation at the second relapse, when new cytogenetic abnormalities emerged. None
acquired novel mutations during the follow-up period. In conclusion, NPM
mutations occur in an age-dependent fashion. The findings that NPM mutations are
stable during disease evolution and closely associated with disease status make it a
potential marker for monitoring minimal residual disease.
Subjects
NPM
AML
CEBPA
FLT3/ITD
immunophenotype
Publisher
臺北市：國立臺灣大學醫學院內科
Type
report
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