Acute myeloid leukemia with CPSF6-RARG fusion resembling acute promyelocytic leukemia with extramedullary infiltration

Xiaoyan Han; Chunxiang Jin; Gaofeng Zheng; Yi Li; Yungui Wang; Enfan Zhang; Honghu Zhu; Zhen Cai

doi:10.1177/2040620720976984

Acute myeloid leukemia with CPSF6-RARG fusion resembling acute promyelocytic leukemia with extramedullary infiltration

Ther Adv Hematol. 2021 Jan 9:12:2040620720976984. doi: 10.1177/2040620720976984. eCollection 2021.

Authors

Xiaoyan Han¹, Chunxiang Jin¹, Gaofeng Zheng¹, Yi Li¹, Yungui Wang², Enfan Zhang¹, Honghu Zhu³, Zhen Cai⁴

Affiliations

¹ Bone Marrow Transplantation Center, Department of Hematology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
² Institute of Hematology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
³ Institute of Hematology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
⁴ Bone Marrow Transplantation Center, Department of Hematology, The First Affiliated Hospital, School of Medicine, Zhejiang University, No. 79, Qingchun Road, Hangzhou, Zhejiang Province 310003, China.

Abstract

Some subtypes of acute myeloid leukemia (AML) share morphologic, immunophenotypic, and clinical features of acute promyelocytic leukemia (APL), but lack a PML-RARA (promyelocytic leukemia-retinoic acid receptor alpha) fusion gene. Instead, they have the retinoic acid receptor beta (RARB) or retinoic acid receptor gamma (RARG) rearranged. Almost all of these AML subtypes exhibit resistance to all-trans retinoic acid (ATRA); undoubtedly, the prognosis is poor. Here, we present an AML patient resembling APL with a novel cleavage and polyadenylation specific factor 6 (CPSF6)-RARG fusion, showing resistance to ATRA and poor response to chemotherapy with homoharringtonine and cytarabine. Simultaneously, the patient also had extramedullary infiltration.

Keywords: CPSF6–RARG fusion; acute myeloid leukemia; extramedullary infiltration; resemble acute promyelocytic leukemia; resistance to ATRA.

Publication types

Case Reports