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The relationship between JAK2(V617F) mutation and dermatomyositis—a case report and literature review

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Abstract

The JAK family (JAK1, JAK2, JAK3, and TYK2) have recently emerged as a potential therapeutic management in controlling severe and refractory dermatomyositis. Meanwhile, the progress in the discovery of JAK blockers is significant, with an increasing number of selective JAK inhibitors reported and some are in or prepare for clinical trials. However, the importance of each JAK in dermatomyositis is unclear, which is critical for a comprehensive understanding of dermatomyositis and significant for forming mechanism-based strategy. Here, we presented a case with clinically amyopathic dermatomyositis and essential thrombocytosis with a somatic constitutive active mutation of JAK2(V617F). The coexistence of these two uncommon diseases attracted us to investigate their underlying relationship. To this end, we characterized the clinical course and laboratory findings of this patient. Particularly, we correlated JAK2(V617F) mutation burden in affected peripheral blood subset with clinical activity score of dermatomyositis. Based on our observation, we concluded that these two diseases are independent disorders, and JAK2(V617F) mutation burden is irrelevant to the severity of dermatomyositis. Finally, we reviewed the literature and summarized them with a thorough discussion.

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Acknowledgments

We appreciated our patient who gave written informed consent in accordance with the Declaration of Helsinki and the ethics committee of Sir Run Run Shaw Hospital, Zhejiang University School of Medicine.

Funding

The work was supported by a grant from the Medical Science and Technology Project of Zhejiang Province (2020KY585 to Q.X.).

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Authors and Affiliations

  1. Department of Rheumatology in Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, People’s Republic of China

    Qin Xu, Xuexiao Jin, Xin Dang & Yongmei Han

  2. Institute of Immunology, Zhejiang University School of Medicine, Hangzhou, 310058, People’s Republic of China

    Yu Jiang

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  1. Qin Xu
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  4. Xin Dang
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Contributions

Q.X. and Y.M. designed the research; Q.X., X.J., and Y.J. performed the research; Q.X. and X.D. collected clinical data; and Q.X. and Y.M. wrote the paper.

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Correspondence to Qin Xu or Yongmei Han.

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Xu, Q., Jin, X., Jiang, Y. et al. The relationship between JAK2(V617F) mutation and dermatomyositis—a case report and literature review. Clin Rheumatol 40, 1147–1157 (2021). https://doi.org/10.1007/s10067-020-05286-y

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  • DOI: https://doi.org/10.1007/s10067-020-05286-y

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