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Retroperitoneal malignant extra-gastrointestinal neuroectodermal tumor with EWSR1::CREM fusion and IL-6-related systemic inflammatory symptoms: a case report

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Abstract

Malignant gastrointestinal neuroectodermal tumors (GNETs) are mesenchymal tumors that typically arise in the digestive tract and harbor EWSR1::ATF1 or EWSR1::CREB1 fusions. We report a case of primary retroperitoneal GNET in a 38-year-old woman who presented with a month-long fever with increased serum IL-6 level. A right retroperitoneal mass of 7 cm consisting of diffuse sheets of small cells with a high nuclear-to-cytoplasmic ratio and scattered osteoclast-like multinucleated giant cells was confirmed apart from the digestive tract. Peripheral lymphoid cuff and focal pseudoangiomatous spaces were present, reminiscent of angiomatoid fibrous histiocytoma. The tumor cells were positive for S100 protein and SOX10 and negative for melanocytic markers. Fluorescent in situ hybridization revealed EWSR1 and CREM gene rearrangements, consistent with EWSR1::CREM fusion, which has never been reported in GNET. The patient lives with recurrent lesions for 8 months. This case was associated with several unusual features and contributes to the evolving GNET concept.

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All data generated or analyzed during this study are included in this published article.

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Authors and Affiliations

  1. Department of Diagnostic Pathology, Kyoto University Hospital, 54 Shogoin Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan

    Akihiko Sugimoto, Akihiko Yoshizawa, Masakazu Fujimoto, Sachiko Minamiguchi & Hironori Haga

  2. Department of Diagnostic Pathology, National Cancer Center Hospital, Tsukiji, Tokyo, Japan

    Akihiko Yoshida

  3. Department of Urology, Graduate School of Medicine, Kyoto University, Kyoto, Japan

    Jin Kono, Atsuro Sawada & Takashi Kobayashi

Authors
  1. Akihiko Sugimoto
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  2. Akihiko Yoshizawa
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  3. Akihiko Yoshida
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  4. Jin Kono
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  5. Atsuro Sawada
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  6. Masakazu Fujimoto
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  7. Sachiko Minamiguchi
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  8. Takashi Kobayashi
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  9. Hironori Haga
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Contributions

AS and AY drafted the manuscript and figures. AY prepared images of fluorescence in situ hybridization and edited the manuscript. JK and AS prepared and analyzed the clinical data. MF, SM, TK, and HH reviewed the manuscript.

Corresponding author

Correspondence to Akihiko Yoshizawa.

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The study was performed in accordance with the Declaration of Helsinki. Ethical committee approval was not required by Kyoto University Hospital.

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Written informed consent was obtained from the patient.

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The authors declare no competing interests.

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Sugimoto, A., Yoshizawa, A., Yoshida, A. et al. Retroperitoneal malignant extra-gastrointestinal neuroectodermal tumor with EWSR1::CREM fusion and IL-6-related systemic inflammatory symptoms: a case report. Virchows Arch 482, 911–915 (2023). https://doi.org/10.1007/s00428-022-03442-0

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  • DOI: https://doi.org/10.1007/s00428-022-03442-0

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