CASE REPORT article
Front. Pediatr.
Sec. Pediatric Hematology and Hematological Malignancies
Volume 13 - 2025 | doi: 10.3389/fped.2025.1646001
This article is part of the Research TopicDiagnosis and Therapy Pediatric Hematological Malignancies - Recent Progress - Volume IIView all 8 articles
Refractory systemic mastocytosis with AML1::ETO+ acute myeloid leukemia driven by rare KIT mutation: remarkable therapeutic efficacy of avapritinib
Provisionally accepted
- 1Lu Daopei Hospital, Beijing, China
- 2Hebei Yanda Lu Daopei Hospital, Langfang, China
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This article describes two pediatric SM with AML1::ETO+ AML patients induced by novel KIT exon11 mutations not previously documented in medical literature. Both patients underwent allogeneic hematopoietic stem cell transplantation, but subsequently developed refractory disease progression unresponsive to multiple salvage regiments. Strikingly, avapritinib intervention achieved unprecedented clinical responses in these complex cases.
Keywords: Systemic mastocytosis (SM), AML1::ETO, KIT activating mutations, allogeneic hematopoietic stem cell transplantation, Avapritinib
Received: 12 Jun 2025; Accepted: 23 Sep 2025.
Copyright: © 2025 Xue, Chen, Sun and Cao. 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:
Song Xue, patrickisaksson@foxmail.com
Xingyu Cao, caoxingyu2020@sina.com
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