Venetoclax combined with avapritinib for treatment of refractory/relapsed acute myeloid leukemia with KIT gene mutation: report of 2 cases and review of literature
10.3760/cma.j.cn115356-20230509-00106
- VernacularTitle:维奈克拉联合阿伐替尼治疗伴KIT基因突变复发难治急性髓系白血病2例并文献复习
- Author:
Lian BAI
1
;
Shengli XUE
;
Jia YIN
;
Tongtong ZHANG
;
Aining SUN
;
Depei WU
Author Information
1. 苏州沧浪医院血液科，苏州 215000
- Keywords:
Leukemia, myeloid, acute;
Salvage therapy;
Proto-oncogene protein c-kit;
Mutation;
Venetoclax;
Avapritinib
- From:
Journal of Leukemia & Lymphoma
2023;32(9):533-537
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the therapeutic efficacy of venetoclax combined with avapritinib in treatment of refractory/relapsed acute myeloid leukemia (AML) with KIT gene mutation.Methods:The clinical data of 2 AML patients with KIT gene mutation who received venetoclax combined with avapritinib admitted to Canglang Hospital of Suzhou in October 2022 and November 2022 were retrospectively analyzed, and the relevant literature was reviewed.Results:Both patients with high-risk relapsed/refractory AML and KIT gene mutation were females; the one was 53 years and the other was 17 years. Case 1 was diagnosed with AML-M 2, and genetic testing revealed positive mutations in ASXL1, KIT, and RUNX1. The patient relapsed after transplantation and then was treated with venetoclax combined with avapritinib achieving morphologic leukemia-free status (MLFS). Case 2 was diagnosed with AML, and RUNX1-RUNX1T1 (AML1-ETO) fusion gene and KIT and DX15 gene mutations were detected. The patient was treated with venetoclax combined with avapritinib regimen after relapse, and the treatment regimen significantly reduced the tumor load. Complete remission was achieved after bridging to allogeneic hematopoietic stem cell transplantation. Conclusions:AML with KIT gene mutation is heterogeneous and some patients are difficult to treat with very poor prognosis. Bridging (secondary) hematopoietic stem cell transplantation can be the better treatment choice for relapsed patients achieving MLFS or complete remission after venetoclax combined with avapritinib treatment regimen.
