Frontiers in Oncology (Apr 2023)

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

  • Xiaodong Liu,
  • Wanting Li,
  • Jian Xiao,
  • Huixiu Zhong,
  • Kun Yang

DOI
https://doi.org/10.3389/fonc.2023.1165819
Journal volume & issue
Vol. 13

Abstract

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Acute promyelocytic leukemia (APL) is a type of myeloid leukemia with a specific chromosomal translocation t(15;17)(q22; q12) forming the PML-RARA 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 EXOC4 and TRHDE, together with PML-RARA. 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 EXOC4‐TRHDE and PML-RARA has yet to be established, the patient had a good response to therapy, suggesting that the EXOC4‐TRHDE fusion does not affect the efficacy of combined treatment with ATRA and ATO.

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