Identification of concurrent STAT3::RARA and RARA::STAT5b fusions in a variant APL case

Mol Carcinog. 2024 Apr;63(4):558-562. doi: 10.1002/mc.23672. Epub 2023 Dec 28.

Abstract

Acute promyelocytic leukemia (APL) with typically PML::RARA fusion gene caused by t (15;17) (q22; q12) was distinguished from other types of acute myeloid leukemia. In a subset of patients with APL, t (15;17) (q22;q21) and PML::RARA fusion cannot be detected. In this report, we identified the coexistence of STAT3::RARA and RARA::STAT5b fusions for the first time in a variant APL patient lacking t (15;17)(q22;q21)/PML::RARA fusion. Then, this patient was resistant to all-trans retinoic acid combined arsenic trioxide chemotherapy. Accurate detection of RARA gene partners is crucial for variant APL, and effective therapeutic regime is urgently needed.

Keywords: RARA::STAT5b; STAT3::RARA; acute promyelocytic leukemia; variant acute promyelocytic leukemia.

MeSH terms

  • Humans
  • Leukemia, Promyelocytic, Acute* / drug therapy
  • Leukemia, Promyelocytic, Acute* / genetics
  • STAT3 Transcription Factor / genetics
  • Tretinoin

Substances

  • Tretinoin
  • STAT3 protein, human
  • STAT3 Transcription Factor