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CHRONIC MYELOPROLIFERATIVE NEOPLASMS

Clinical phenotypes, molecular analysis, and outcomes of patients with Rosai-Dorfman disease

Leukemia volume 37, pages 2297–2300 (2023)Cite this article

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Rosai–Dorfman disease (RDD) is a rare non Langerhans-cell histiocytosis (LCH) of unknown etiology [1]. According to the 2016 revised histiocytosis classification, RDD includes familial and sporadic forms (classical nodal, extranodal, unclassified, or RDD associated with neoplasia or immune disease), which are classified under R group [2] Some cases of RDD are classified under C group (cutaneous). Recent studies found mutations in genes of the mitogen-activated protein kinase/extracellular signal-regulated kinase MAPK/ERK pathway in RDD patients, suggesting a clonal histiocytic proliferative process [3]. One of the largest contemporary case series was conducted by Goyal et al. and included only 64 patients [4]. Hence, we retrospectively studied the clinical features, laboratory tests, molecular characteristics, treatment approaches, and outcomes of patients with RDD from two large referral centers.

Patients with RDD diagnosed between January 2005 and December 2022 at Peking Union Medical College Hospital (Beijing, China) and Tongji Medical College Union Hospital (Wuhan, China) were included in this retrospective study. RDD was further classified as unifocal (solitary lesion involving any organ), single-system multifocal (>1 lesion involving any one organ) and multisystem (MS, >1 organ/system involvement). DNA extracted from formalin-fixed and paraffin-embedded (FFPE) preserved lesion biopsy samples were subjected to next-generation sequencing (NGS) of 183 genes as previously described [5]. The overall response rate (ORR) included complete remission (CR) and partial remission (PR), which was defined by symptoms or imaging findings [6]. Event-free survival (EFS) was defined as the duration from the first-line treatment initiation to the first event, including poor response to therapy, progression or relapse of disease or death. Overall survival (OS) was defined as the time from diagnosis to the date of death or last follow-up. The final follow-up date was January 15, 2023.

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Fig. 1: Clinical manifestations and organ involvement among patients with RDD.

References

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Funding

This study was funded by the National Key R&D Program of China, Ministry of Science and Technology of the People’s Republic of China (2022YFC2304605), Beijing Natural Science Haidian frontier Foundation (Grant No. L222081 to XXC) and the National High Level Hospital Clinical Research Funding (2022-PUMCH-B-046).

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Author notes

  1. These authors contributed equally: Long Chang, Bing Qiao.

Authors and Affiliations

  1. Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

    Long Chang, Hao Cai, He Lin, Ming-hui Duan, Jian Li, Dao-bin Zhou & Xin-xin Cao

  2. State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Beijing, China

    Long Chang, Hao Cai, He Lin, Ming-hui Duan, Jian Li, Dao-bin Zhou & Xin-xin Cao

  3. Insititute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China

    Bing Qiao & Chun-yan Sun

  4. Division of Hematology-Oncology, University of Alabama at Birmingham, Birmingham, AL, USA

    Gaurav Goyal

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  1. Long Chang
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Contributions

LC, BQ, CYS, and XXC contributed to study conception and design; LC and HC contributed to data collection and analysis, HL contributed to patient follow-up; JL, MHD, DBZ, and GG retrospectively reviewed patient records; LC, BQ, CYS, and XXC wrote the paper; and all authors revised the paper and approved the submitted version.

Corresponding authors

Correspondence to Chun-yan Sun or Xin-xin Cao.

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Competing interests

GG served on advisory board for Opna Bio LLC.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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InformeInformed consent was obtained from all patients included in thed consent was obtained from all patients included in the study.

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Chang, L., Qiao, B., Cai, H. et al. Clinical phenotypes, molecular analysis, and outcomes of patients with Rosai-Dorfman disease. Leukemia 37, 2297–2300 (2023). https://doi.org/10.1038/s41375-023-02032-6

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