AUTHOR=Huang Qiaolin , Zhang Yicheng , Zheng Miao 

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

JOURNAL=Frontiers in Oncology

VOLUME=14

YEAR=2024

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2024.1342671

DOI=10.3389/fonc.2024.1342671

ISSN=2234-943X

ABSTRACT=<sec><title>Background</title><p>Acute promyelocytic leukemia (APL) with <italic>PML/RARα</italic> fusion gene is a distinct variant of acute myeloid leukemia. According to the different break sites of the <italic>PML</italic> gene, there are three transcripts: Long (bcr1), Variant (bcr2) and Short (bcr3).</p></sec><sec><title>Methods</title><p>We retrospectively analyzed 82 APL cases with <italic>PML-RARα</italic> short isoform.</p></sec><sec><title>Results</title><p>A total of 384 patients with APL were seen, of which 85(22.14%) had <italic>PML/RARα</italic> 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 (<italic>P=0.006)</italic>, and the incidences of fever, fatigue, splenomegaly, and lymph node enlargement and differentiation syndrome (DS<italic>)</italic> in those groups were not statistically significant (<italic>P</italic>&gt;0.05). <italic>FLT3</italic> gene mutation rate and the mortality rate of the high-risk group were significantly higher than that of other groups (<italic>P</italic>=0.040 and <italic>P</italic>=0.004, <italic>P=</italic>0.041 and <italic>P</italic>=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 (<italic>P</italic>=0.019 and <italic>P</italic>=0.017, respectively).</p></sec><sec><title>Conclusions</title><p>ATRA combined with arsenic and anthracycline had significant impact on outcomes in APL with <italic>PML-RARα</italic> short isoform.</p></sec>