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. 2024 Feb 21:14:1342671.
doi: 10.3389/fonc.2024.1342671. eCollection 2024.

Clinical analysis of 82 cases of acute promyelocytic leukemia with PML-RARα short isoform in children and adults

Qiaolin Huang  1 , Yicheng Zhang  1   2   3 , Miao Zheng  1   2
Affiliations

Clinical analysis of 82 cases of acute promyelocytic leukemia with PML-RARα short isoform in children and adults

Qiaolin Huang et al. Front Oncol. .

Abstract

Background: Acute promyelocytic leukemia (APL) with PML/RARα fusion gene is a distinct variant of acute myeloid leukemia. According to the different break sites of the PML gene, there are three transcripts: Long (bcr1), Variant (bcr2) and Short (bcr3).

Methods: We retrospectively analyzed 82 APL cases with PML-RARα short isoform.

Results: A total of 384 patients with APL were seen, of which 85(22.14%) had PML/RARα 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 (P=0.006), and the incidences of fever, fatigue, splenomegaly, and lymph node enlargement and differentiation syndrome (DS) in those groups were not statistically significant (P>0.05). FLT3 gene mutation rate and the mortality rate of the high-risk group were significantly higher than that of other groups (P=0.040 and P=0.004, P=0.041 and P=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 (P=0.019 and P=0.017, respectively).

Conclusions: ATRA combined with arsenic and anthracycline had significant impact on outcomes in APL with PML-RARα short isoform.

Keywords: PML-RARα short isoform; acute promyelocytic leukemia; bcr3 isoform; clinical features; gene mutation.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Kaplan-Meier estimates of overall survival based on risk groups. Kaplan-Meier curves showing 3 years landmark analysis for OS (Overall Survival) of patients with PML/RARα S fusion gene since the diagnosis of this disease. The low and intermediate risk group compared with the high risk group, and the difference was significant (P=0.019). Groups were compared by log-rank test.
Figure 2
Figure 2
Kaplan-Meier estimates of disease-free survival based on risk groups. Note: Kaplan-Meier curves showing 3 years landmark analysis for DFS (disease-free survival) of patients with PML/RARα S fusion gene achieving the first remission. The low and intermediate risk group compared with the high risk group, and the difference was significant (P=0.017). Groups were compared by log-rank test.
See this image and copyright information in PMC

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