Two cases of systemic mastocytosis with RUNX1-RUNX1T1 positive acute myeloid leukemia treated with sequential avapritinib after allogeneic hematopoietic stem cell transplantation and literature review

TL;DR

This paper reports two cases of a rare blood cancer treated with a stem cell transplant followed by avapritinib, showing promising results.

Contribution

The study presents a novel treatment approach combining allo-HSCT and avapritinib for a rare leukemia subtype.

Findings

Sequential avapritinib after allo-HSCT led to disappearance of mast cells in bone marrow.

C-KIT mutations and RUNX1-RUNX1T1 fusion genes remained negative post-treatment.

The treatment approach showed potential as an effective therapy for this rare condition.

Abstract

系统性肥大细胞增多症（SM）伴RUNX1-RUNX1T1阳性急性髓系白血病（AML）是一种较为罕见的髓系肿瘤，目前尚无标准的治疗方案，河南省肿瘤医院异基因造血干细胞移植（allo-HSCT）序贯阿伐替尼治疗2例SM伴RUNX1-RUNX1T1阳性AML患者，骨髓中肥大细胞消失，C-KIT突变和RUNX1-RUNX1T1融合基因持续阴性。提示allo-HSCT后序贯阿伐替尼可作为SM伴RUNX1-RUNX1T1阳性AML患者的有效治疗手段。