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Bi-directional association between RUNX1::RUNX1T1 and KIT mutations in acute myeloid leukemia: A multicenter genomic

Yuya Arai1, Seiichiro Katagiri1, SungGi Chi2

  • 1Department of Hematology, Tokyo Medical University, Japan.

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|March 25, 2026
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Summary

Acute myeloid leukemia (AML) with RUNX1::RUNX1T1 and KIT mutations shows a strong biological link, particularly with KIT exon 17 mutations. Further research is needed to evaluate KIT-directed therapies in this AML subset.

Keywords:
AMLKITNGSRUNX1::RUNX1T1

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Area of Science:

  • Hematology
  • Genetics
  • Oncology

Background:

  • Next-generation sequencing identifies genomic alterations in acute myeloid leukemia (AML).
  • KIT mutations are suggested to confer adverse risk in AML with RUNX1::RUNX1T1.
  • The bidirectional relationship and prognostic impact of RUNX1::RUNX1T1 and KIT mutations require further clarification.

Purpose of the Study:

  • To clarify the bidirectional association between RUNX1::RUNX1T1 and KIT mutations in AML.
  • To investigate the clinical impact of these co-mutations on patient outcomes.

Main Methods:

  • Analysis of 331 AML patients from two Japanese multicenter genomic profiling studies (HMS-01 and HMS-02).
  • Detection of RUNX1::RUNX1T1 and KIT mutations using genomic profiling.
  • Evaluation of co-mutation patterns and overall survival.

Main Results:

  • RUNX1::RUNX1T1 was found in 7.6% and KIT mutations in 5.4% of AML patients.
  • Ten patients (3.0%) had both RUNX1::RUNX1T1 and KIT mutations, representing 40% of RUNX1::RUNX1T1 AML and 56% of KIT-mutated AML.
  • All co-occurring KIT mutations were in exon 17; these patients were often diagnosed at relapse or in refractory disease. RUNX1::RUNX1T1 was the most frequent fusion in KIT-mutated AML.

Conclusions:

  • A strong biological association exists between RUNX1::RUNX1T1 and KIT exon 17 mutations in AML.
  • These findings suggest the need for prospective studies and evaluation of KIT-targeted therapies in this specific AML subgroup.