AUTHOR=Xue Song , Chen Man , Sun Hui-peng , Cao Xing-yu 

TITLE=Case Report: Refractory systemic nmastocytosis with AML1::ETO+ acute myeloid leukemia driven by rare KIT mutation: remarkable therapeutic efficacy of avapritinib

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 13 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1646001

DOI=10.3389/fped.2025.1646001

ISSN=2296-2360

ABSTRACT=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.