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Normalization of NPM1 mutant transcript to the wild-type transcript.


ABSTRACT: Current guidelines recommend that Acute Myeloid Leukemia (AML) patients with NPM1 mutations should be monitored for measurable residual disease by quantifying the transcripts and normalizing them to ABL1 transcripts. In this short report, a simple and highly accurate method to quantify the NPM1 mutant transcript normalized to the wild-type NPM1 transcript is presented. The percent mutant transcript correlates very well to the corresponding mutant allele frequency as determined by DNA-based methods allowing direct comparison of investigational studies that use RNA-based or DNA-based methods for monitoring NPM1 mutations.

SUBMITTER: Jennings LJ 

PROVIDER: S-EPMC9713034 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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Normalization of <i>NPM1</i> mutant transcript to the wild-type transcript.

Jennings Lawrence J LJ  

EJHaem 20220927 4


Current guidelines recommend that Acute Myeloid Leukemia (AML) patients with <i>NPM1</i> mutations should be monitored for measurable residual disease by quantifying the transcripts and normalizing them to <i>ABL1</i> transcripts. In this short report, a simple and highly accurate method to quantify the <i>NPM1</i> mutant transcript normalized to the wild-type <i>NPM1</i> transcript is presented. The percent mutant transcript correlates very well to the corresponding mutant allele frequency as d  ...[more]

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