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A novel NAP1L4/NUTM1 fusion arising from translocation t(11;15)(p15;q12) in a myeloid neoplasm with eosinophilia and rearrangement of PDGFRA highlights an unusual clinical feature and therapeutic reaction

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Abstract

NUT midline carcinoma (NMC) is an aggressive neoplasm and mainly involved in the head and neck area. The defining genetic hallmark on these tumors is that testis-specific nuclear gene (NUTM1) fuses to bromodomain protein family member 4 gene (BRD4), resulting in the formation of BRD4-NUTM1 transcript. Here, we report a case with myeloid neoplasm complicating with eosinophilia (MLN-Eo) and rearrangement of PDGFRA, which co-exists with a new nucleosome assemble protein 1–like 4 gene (NAP1L4) NAP1L4-NUTM1 fusion. The patient have unusually clinical features and therapeutic reaction to imatinib mesylate. The cloned NAP1L4-NUTM1 gene structure is also determined.

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Acknowledgments

The authors would like to thank the patient for participation and coordination in this study.

Funding

This work was supported in part by the National Natural Science Foundation of China (No. 81470323 and No. 81500171).

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Authors and Affiliations

  1. Department of Hematology, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, People’s Republic of China

    Zhao Cheng, Yunya Luo, Yewei Wang, Yi Chen, Yunxiao Xu, Honling Peng & Guangsen Zhang

  2. Department of Oncology, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, People’s Republic of China

    Yang Zhang

Authors
  1. Zhao Cheng
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  2. Yunya Luo
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  3. Yang Zhang
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  4. Yewei Wang
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  5. Yi Chen
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  6. Yunxiao Xu
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  7. Honling Peng
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  8. Guangsen Zhang
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Contributions

Professor Guangsen Zhang diagnosed patient and designed and composed this study. Dr. Zhao Cheng and Yunya Luo collected the data and conducted the study. Dr. Yang Zhang and Mr. Yi Chen helped with clinic sample collection. Dr. Yewei Wang helped with data analysis. Professor Yunxiao Xu and Professor Hongling Peng partially participate in the study and helped with clinic sample collection.

Corresponding author

Correspondence to Guangsen Zhang.

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Conflict of interest

The authors declare that they have no competing interests.

Ethics approval and consent to participate

Informed consent was obtained from all participating individuals, in accordance with the Declaration of Helsinki, and the studies were approved by the Human Research Ethics Committee of the Second Xiangya Hospital.

Consent for publication

Written informed consent for publication was obtained from all participants.

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Zhao Cheng and Yunya Luo are co-first authors.

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Cheng, Z., Luo, Y., Zhang, Y. et al. A novel NAP1L4/NUTM1 fusion arising from translocation t(11;15)(p15;q12) in a myeloid neoplasm with eosinophilia and rearrangement of PDGFRA highlights an unusual clinical feature and therapeutic reaction. Ann Hematol 99, 1561–1564 (2020). https://doi.org/10.1007/s00277-020-04000-x

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  • DOI: https://doi.org/10.1007/s00277-020-04000-x

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