# Avapritinib for systemic mastocytosis with an associated myelodysplastic/myeloproliferative neoplasm: a case report and literature review

## TL;DR

This case report shows avapritinib's effectiveness in treating systemic mastocytosis with MDS/MPN, but highlights the impact of associated blood cancers on survival.

## Contribution

Demonstrates avapritinib's clinical impact on SM-AHN and emphasizes the role of coexisting blood tumors in prognosis.

## Key findings

- Avapritinib achieved complete remission and KIT D816V mutation clearance in SM-AHN.
- Patient's survival was limited by progression to chronic myelomonocytic leukemia.
- SM-AHN prognosis depends on managing associated blood tumors alongside mastocytosis.

## Abstract

系统性肥大细胞增多症（SM）合并骨髓增生异常综合征/骨髓增殖性肿瘤（MDS/MPN）是一种较为罕见的髓系肿瘤。阿伐替尼是一种高效的KIT D816V选择性抑制剂，被批准用于治疗进展型系统性肥大细胞增多症（AdvSM）。我们报道1例应用阿伐替尼治疗SM合并MDS/MPN患者，SM得到持续完全缓解且KIT D816V突变持续转阴，最终因进展为慢性粒-单核细胞白血病而死亡。虽然新的靶向药物阿伐替尼显著提高了SM的疗效，但对于SM合并相关血液肿瘤（SM-AHN）患者，其伴随的血液肿瘤的疗效可能是影响其长期生存和无疾病进展生存期的主要因素。本文通过相关文献复习，以期指导对该类疾病的临床诊治。