# 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

**Authors:** 娟 王, 璎玲 祖, 瑞瑞 桂, 珍 李, 䶮莉 张, 健 周

PMC · DOI: 10.3760/cma.j.cn121090-20240313-00092 · 2024-05-01

## 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.

## Key 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。

## Linked entities

- **Genes:** RUNX1 (RUNX family transcription factor 1) [NCBI Gene 861], RUNX1T1 (RUNX1 partner transcriptional co-repressor 1) [NCBI Gene 862], KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815]
- **Chemicals:** avapritinib (PubChem CID 118023034)
- **Diseases:** systemic mastocytosis (MONDO:0016586), acute myeloid leukemia (MONDO:0015667)

## Full-text entities

- **Genes:** KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815] {aka C-Kit, CD117, MASTC, PBT, SCFR}, RUNX1 (RUNX family transcription factor 1) [NCBI Gene 861] {aka AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1}, RUNX1T1 (RUNX1 partner transcriptional co-repressor 1) [NCBI Gene 862] {aka AML1-MTG8, AML1T1, CBFA2T1, CDR, ETO, MTG8}
- **Diseases:** Cancer (MESH:D009369), SM (MESH:D034721), AML (MESH:D015470)
- **Species:** Homo sapiens (human, species) [taxon 9606]

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Source: https://tomesphere.com/paper/PMC11270486