CASE REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
This article is part of the Research TopicCase-based Advances in the Understanding of Rare and Unusual Hematologic Malignancies 2025View all 4 articles
Avapritinib in the treatment of systemic mastocytosis with associated acute myeloid leukemia after poor graft function following allogeneic hematopoietic stem cell transplantation: a case study and review of the literature
Provisionally accepted
- Henan Cancer Hospital Affiliated Cancer Hospital of Zhengzhou University, Zhengzhou, China
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Introduction: This case is reported due to its novelty in demonstrating the efficacy of avapritinib, a selective KIT inhibitor, in a rare systemic mastocytosis-associated acute myeloid leukemia (SM-AML) patient with non-D816V KIT mutations and RUNX1::RUNX1T1 fusion. Avapritinib is established for KIT D816V-mutant advanced systemic mastocytosis (AdvSM). However, its role in non-D816V KIT mutant SM-AHN post-allogeneic hematopoietic stem cell transplantation (Allo-HSCT) remains unexplored, highlighting the need to document this therapeutic challenge and outcome. Case presentation: A 15-year-old Asian male with SM-AML underwent induction chemotherapy, targeted therapy, and Allo-HSCT, but experienced graft failure with persistent mastocytosis. Post-Allo-HSCT avapritinib was initiated due to high proportion of mast cells (MCs). After 14 months, the patient achieved minimal residual disease (MRD)-negative complete remission, full donor chimerism (100%), and sustained hematologic recovery without adverse events. MC burden declined from 14.06% to 0.3%, and RUNX1::RUNX1T1 fusion became undetectable. Conclusion: This case highlights avapritinib’s potential as a salvage therapy for non-D816V KIT mutant SM-AML post-Allo-HSCT, effectively reducing MC clones and restoring donor chimerism. It suggests that avapritinib may bridge therapeutic gaps for atypical KIT-mutant systemic mastocytosis with associated hematologic neoplasm (SM-AHN) that is ineligible for Allo-HSCT or relapsed. Prospective trials are warranted to validate its efficacy, optimize dosing, and explore synergies with Allo-HSCT, offering new strategies for these high-risk patients.
Keywords: Acute Myeloid Leukemia, Allo-HSCT, Avapritinib, case report, systemic mastocytosis
Received: 20 Oct 2025; Accepted: 02 Dec 2025.
Copyright: © 2025 Mi, Li, Chen, Wang, Ma, Fu and Wei. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Xudong Wei
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