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<p><i>KIT</i> mutations are well-established as poor prognostic markers in core binding factor AML (CBF AML). However, data on <i>KIT</i> mutation in CBF-negative (CBF-neg) AML remains scarce. This retrospective study aimed to characterize the clinical features and outcomes of patients with <i>KIT</i> mutant (<i>KIT</i> mut)/CBF-neg AML. We conducted a retrospective study in our single center and identified non-M3 de novo AML with KIT mutations by next-generation sequencing (NGS) from January 2018 to June 2024. Core binding factor (CBF) AML or patients with underlying systemic mastocytosis were excluded. The clinical data of <i>KIT</i> mut/CBF-neg AML was collected and analyzed. 45 patients were enrolled in the cohort, including 3 patients with secondary AML. The median variant allele frequency (VAF) of <i>KIT</i> mutation was 41.2% and the most frequent comuations were <i>CEBPA</i> (27/45, 60%), <i>WT1</i> (12/45, 26.7%) and <i>NRAS</i> (11/45, 24.4%). After a median follow-up of 48 months, the median event-free survival (EFS) and overall survival (OS) of the cohort was 15.3 months and 24.1 months, respectively. Patients with <i>KIT</i> exon 17 mutations tended to harbor an inferior EFS and OS. In conclusion, <i>KIT</i> mutant/CBF-neg AML was a complex subgroup with dismal prognosis and NIT might bring benefits for those patients.</p>

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KIT Mutant/Core binding factor-negative acute myeloid leukemia might be a complex subgroup with dismal prognosis: a single-center retrospective analysis

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  • 发表日期：

    2026年1月20日

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  • Rui Jiang,
  • Zhibo Zhang,
  • Yizi Liu,
  • Wenqiang Qu,
  • Zhao Zeng,
  • Linlin Wang,
  • Qian Wang,
  • Jia Yin,
  • Suning Chen

摘要

KIT mutations are well-established as poor prognostic markers in core binding factor AML (CBF AML). However, data on KIT mutation in CBF-negative (CBF-neg) AML remains scarce. This retrospective study aimed to characterize the clinical features and outcomes of patients with KIT mutant (KIT mut)/CBF-neg AML. We conducted a retrospective study in our single center and identified non-M3 de novo AML with KIT mutations by next-generation sequencing (NGS) from January 2018 to June 2024. Core binding factor (CBF) AML or patients with underlying systemic mastocytosis were excluded. The clinical data of KIT mut/CBF-neg AML was collected and analyzed. 45 patients were enrolled in the cohort, including 3 patients with secondary AML. The median variant allele frequency (VAF) of KIT mutation was 41.2% and the most frequent comuations were CEBPA (27/45, 60%), WT1 (12/45, 26.7%) and NRAS (11/45, 24.4%). After a median follow-up of 48 months, the median event-free survival (EFS) and overall survival (OS) of the cohort was 15.3 months and 24.1 months, respectively. Patients with KIT exon 17 mutations tended to harbor an inferior EFS and OS. In conclusion, KIT mutant/CBF-neg AML was a complex subgroup with dismal prognosis and NIT might bring benefits for those patients.