Evaluation of methods for detection of NPM1 gene mutations in acute myeloid leukemia / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 999-1004, 2011.
Article
in Zh
| WPRIM
| ID: wpr-261942
Responsible library:
WPRO
ABSTRACT
The purpose of this study was to establish real-time based methods for detection of NPM1 gene mutation in acute myeloid leukemia (AML). Primers/probes were designed according to the clustered region of NPM1 mutations on exon 12. Two real-time PCR assays, including high resolution melting curve (HRM) and allele-specific PCR (AS-PCR), were developed and clinically evaluated with 89 AML samples, which were parallelly detected by capillary electrophoresis (CE) and sequencing. The results showed that a total of 17 mutation-positive samples were detected, including type A (15 cases), type B (1 case) and type Nm (1 case). HRM assay could detect all mutant types, and the analytical sensitivity was around 5%. In contrast, AS-PCR assay detected only 95% mutant types, but its sensitivity was as high as 0.01%. It is concluded that considering the characteristics of each method as well as the clinical evaluation results, HRM may be used for screening of NPM1 mutations at diagnosis, while the AS-PCR can be used for the MRD quantification during follow-up.
Full text:
1
Index:
WPRIM
Main subject:
Plasmids
/
DNA Mutational Analysis
/
Nuclear Proteins
/
Leukemia, Myeloid, Acute
/
Polymerase Chain Reaction
/
Sensitivity and Specificity
/
Genome
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Neoplasm, Residual
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Electrophoresis, Capillary
/
Diagnosis
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
Zh
Journal:
Journal of Experimental Hematology
Year:
2011
Type:
Article