Huang Qiaolin, Zhang Yicheng, Zheng Miao
Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Immunotherapy Research Center for Hematologic Diseases of Hubei Province, Wuhan, Hubei, China.
Front Oncol. 2024 Feb 21;14:1342671. doi: 10.3389/fonc.2024.1342671. eCollection 2024.
Acute promyelocytic leukemia (APL) with fusion gene is a distinct variant of acute myeloid leukemia. According to the different break sites of the gene, there are three transcripts: Long (bcr1), Variant (bcr2) and Short (bcr3).
We retrospectively analyzed 82 APL cases with short isoform.
A total of 384 patients with APL were seen, of which 85(22.14%) had short isoform (bcr3) and 82 met the inclusion criteria. The median age was 33.5 years (range, 2-72 years). The incidences of hemorrhage in the intermediate- and high-risk group were higher, but only the incidence between medium and low risk differed statistically (, and the incidences of fever, fatigue, splenomegaly, and lymph node enlargement and differentiation syndrome (DS in those groups were not statistically significant (>0.05). gene mutation rate and the mortality rate of the high-risk group were significantly higher than that of other groups (=0.040 and =0.004, 0.041 and =0.037, respectively). The mortality rate was lowest (4.26%) in the group treated with ATRA combined with arsenic and anthracycline. The 3-year OS and the 3-year DFS of the low and intermediate-risk group were better (=0.019 and =0.017, respectively).
ATRA combined with arsenic and anthracycline had significant impact on outcomes in APL with short isoform.
伴有融合基因的急性早幼粒细胞白血病（APL）是急性髓系白血病的一种独特变体。根据基因的不同断裂位点，有三种转录本：长型（bcr1）、变异型（bcr2）和短型（bcr3）。
我们回顾性分析了82例具有短异构体的APL病例。
共观察到384例APL患者，其中85例（22.14%）具有短异构体（bcr3），82例符合纳入标准。中位年龄为33.5岁（范围2 - 72岁）。中高危组出血发生率较高，但仅中低危组之间的发生率差异有统计学意义（，且这些组中发热、乏力、脾肿大、淋巴结肿大及分化综合征（DS）的发生率差异无统计学意义（>0.05）。高危组的基因突变率和死亡率显著高于其他组（分别为=0.040和=0.004，0.041和=0.037）。全反式维甲酸（ATRA）联合砷剂和蒽环类药物治疗组的死亡率最低（4.26%）。低中危组的3年总生存期（OS）和3年无病生存期（DFS）较好（分别为=0.019和=0.017）。
ATRA联合砷剂和蒽环类药物对具有短异构体的APL患者的预后有显著影响。
