What question did this study set out to answer?

This research aims to quantify mutation-specific clonal fitness and fate bias in myeloproliferative neoplasms.

December 8, 2025BloodOpen Access

Functional annotation of MPN clones reveals mutation-specific fitness and fate bias

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Authors

FTFranco Castillo TokumoriCornell University

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Implication

Functional annotation reveals mutation-specific fitness in hematopoietic stem cells, highlighting implications for thrombosis and leukemic transformation.

Key Points

This research aims to quantify mutation-specific clonal fitness and fate bias in myeloproliferative neoplasms.
Developed a single-cell genotyping and immunophenotyping workflow using MissionBio Tapestri platform.
Analyzed primary MPN blood samples to assess mutation impact across hematopoiesis.
Integrated genotype and immunophenotype data for detailed lineage tracking.
Identified variance in JAK2V617F clone fitness based on zygosity and co-occurrent mutations.
Demonstrated preference for myeloid over lymphoid differentiation among JAK2V617F clones.
Revealed fitness effects of variants of unknown significance on clonal dynamics.

Cite This Study

Franco Castillo Tokumori (2025) studied this question.

synapsesocial.com/papers/693624d74fa91c937236d12b https://doi.org/10.1182/blood-2025-3766

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Implication

Functional annotation reveals mutation-specific fitness in hematopoietic stem cells, highlighting implications for thrombosis and leukemic transformation.