Case report: A rare case of acute myeloid leukemia with CPSF6-RARG fusion resembling acute promyelocytic leukemia

Junmei Zhao; Wentao Wang; Li Yan; Xi Chen; Wen Li; Wanying Li; Tingting Chen; Lunhua Chen

doi:10.3389/fonc.2022.1011023

Case report: A rare case of acute myeloid leukemia with CPSF6-RARG fusion resembling acute promyelocytic leukemia

Front Oncol. 2022 Sep 15:12:1011023. doi: 10.3389/fonc.2022.1011023. eCollection 2022.

Authors

Junmei Zhao¹, Wentao Wang², Li Yan¹, Xi Chen¹, Wen Li¹, Wanying Li¹, Tingting Chen¹, Lunhua Chen¹

Affiliations

¹ Department of Hematology, Wuhan University Renmin Hospital, Wuhan, China.
² Department of Infectious Diseases, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Abstract

Retinoic acid receptor gamma (RARG) gene rearrangement has been reported in several acute myeloid leukemia (AML) patients. They resemble classical acute promyelocytic leukemia (APL) patients in clinical features, morphology, and immunophenotype but do not carry the promyelocytic leukemia (PML)-RARA fusion gene. Importantly, almost all these APL-like AML patients show resistance to all-trans retinoic acid (ATRA), and no effective treatment is recommended for them. Here, we identified a case of AML resembling APL in clinical presentation and experimental findings carrying a rare cleavage and polyadenylation-specific factor 6 (CPSF6)-RARG fusion gene. The patient was insensitive to ATRA and ATO but responded well to homoharringtonine and cytarabine.

Keywords: CPSF6-RARG fusion; acute myeloid leukemia; acute promyelocytic leukemia; homoharringtonine; resistance to ATRA.

Publication types

Case Reports