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Acute myeloid Leukemia

Identification of a novel CPSF6-RARG fusion transcript in acute myeloid leukemia resembling acute promyelocytic leukemia

Leukemia volume 32, pages 2285–2287 (2018)Cite this article

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Cleavage and polyadenylation specific factor 6 (CPSF6) is a large subunit of cleavage factor I, which is an RNA-binding protein complex that was originally identified as a central player in the alternative cleavage and polyadenylation process.1 The CPSF6 and Nudt21 complex binds RNA and facilitates RNA looping, allowing alternative mRNA 3′ end processing.2 CPSF6 alone controls the key molecular interactions that specify HIV-1 pre-integration complex trafficking to active chromatin.3 Recently, CPSF6 was found to play a vital role in breast cancer aggressiveness.4 However, the role of CPSF6 in leukemia has not been reported so far. Here, we report the first case with a novel CPSF6-retinoic acid receptor gamma (RARG) (CPSF6-RARG) fusion transcript, showing morphological and immunophenotypical features of classical hypergranular acute promyelocytic leukemia (APL).

After suspected diagnosis of APL based on the morphological and immunophenotypical findings, we started all-trans retinoic acid (ATRA) treatment at the first day, added an oral arsenic realgar-indigo naturalis formula on the fourth day. The percentage of promyelocytes, myelocytes, and metamylocytes in the peripheral blood smear was 4, 6, and 0% before treatment and was 26, 32, and 4% after treatment for 14 days, respectively. The white blood cell counts increased from 1.68 × 109/L to 4.66 × 109/L accordingly. Subsequently, the patient presented unexplained fever, dyspnea, pulmonary infiltrates, and pleural effusion by CT scan. Thus, the differentiation syndrome was suspected. Because the coagulation abnormalities did not improve after the treatment with ATRA plus arsenic and there was no evidence of RARA rearrangement, ATRA and arsenic were stopped and the induction chemotherapy composed of mitoxantrone and cytarabine was started concomitantly on the 26th day. The patient died on the 37th day because of diffuse alveolar hemorrhage, and we did not perform the BM aspiration to assess the remission.

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Acknowledgements

This work was supported by Grants from the National Key R&D Program of China (No. 2016YFE0202800) and the National Natural Science Foundation of China (No. 81570128, 81370639, 81570130).

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  1. Department of Hematology, Peking University People’s Hospital, Peking University Institute of Hematology, Beijing, China

    Ya-Zhen Qin, Xiao-Jun Huang & Hong-Hu Zhu

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  1. Ya-Zhen Qin
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Correspondence to Hong-Hu Zhu.

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Qin, YZ., Huang, XJ. & Zhu, HH. Identification of a novel CPSF6-RARG fusion transcript in acute myeloid leukemia resembling acute promyelocytic leukemia. Leukemia 32, 2285–2287 (2018). https://doi.org/10.1038/s41375-018-0095-z

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