What question did this study set out to answer?

To investigate mechanisms of clonal evolution in post-MPN acute myeloid leukemia using single cell long read genotyping.

May 10, 2026Blood AdvancesOpen Access

Single cell long read genotyping of transcripts reveals discrete mechanisms of clonal evolution in post-MPN AML

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Randomized trial shows discrete mutations linked to transcriptional changes in post-MPN AML, suggesting novel insights into disease evolution.

To investigate mechanisms of clonal evolution in post-MPN acute myeloid leukemia using single cell long read genotyping.
Developed a long read genotyping pipeline named LOTR-Seq for cDNA transcripts.
Genotyped HSPCs from chronic phase MPN and post-MPN AML patient samples.
Linked mutations to the single cell transcriptome of over 46,000 cells.
Identified nine mutated loci in six genes associated with post-MPN AML.
Linked these mutations to specific transcriptional phenotypes observed in single cells.
Genotyping effectively captured low-expression genes alongside other mutations.

Grabek et al. (2026) studied this question.

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Randomized trial shows discrete mutations linked to transcriptional changes in post-MPN AML, suggesting novel insights into disease evolution.