AUTHOR=Liu Xiaodong , Li Wanting , Xiao Jian , Zhong Huixiu , Yang Kun 

TITLE=Case Report: Co-existence of a novel EXOC4‐TRHDE gene fusion with PML-RARA in acute promyelocytic leukemia

JOURNAL=Frontiers in Oncology

VOLUME=13

YEAR=2023

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1165819

DOI=10.3389/fonc.2023.1165819

ISSN=2234-943X

ABSTRACT=<p>Acute promyelocytic leukemia (APL) is a type of myeloid leukemia with a specific chromosomal translocation t(15;17)(q22; q12) forming the <italic>PML-RARA</italic> fusion gene. However, approximately one third of newly diagnosed patients with APL have additional chromosomal abnormalities. Here, we report a case of APL with co-existence of a novel translocation t(7;12)(q32;q13) involving an out-of-frame fusion between <italic>EXOC4</italic> and <italic>TRHDE</italic>, together with <italic>PML-RARA</italic>. The patient achieved complete remission after treatment with conventional therapy with all-trans retinoic acid (ATRA) and arsenic trioxide (ATO). Although the causative link between <italic>EXOC4‐TRHDE</italic> and <italic>PML-RARA</italic> has yet to be established, the patient had a good response to therapy, suggesting that the <italic>EXOC4‐TRHDE</italic> fusion does not affect the efficacy of combined treatment with ATRA and ATO.</p>