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Novel detection of the CAMTA1-WWTR1 fusion gene in extra-adrenal myelolipoma-like lesion: a case report

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Abstract

A mediastinal mass was incidentally detected by chest X-ray in a 44-year-old man. Computed tomography findings revealed that the mass was a possible malignancy in the right and middle mediastinum and was removed by surgical resection. Macroscopically, the resected specimen was a well-demarcated yellowish, brownish, and whitish mass. Microscopically, a solid lesion with cords of epithelioid cells in the extra-adrenal myelolipoma-like lesion was observed. Immunohistochemically, the solid lesion was positive for typical vascular markers and CAMTA1, the expression of which is highly specific for epithelioid hemangioendothelioma (EHE). The endothelial cells and bone marrow elements of myelolipoma-like lesion were also positive for CAMTA1. Fluorescence in situ hybridization examination detected the CAMTA1-WWTR1 fusion gene not only in the solid lesion but also in the endothelial cells and bone marrow elements of myelolipoma-like lesion. To our knowledge, this is the first report suggesting common genetic abnormality, CAMTA1-WWTR1 fusion, in cases of EHE and extra-adrenal myelolipoma.

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Acknowledgements

We would like to thank the laboratory technicians in Tohoku Medical and Pharmaceutical University for their assistance in the preparation of the histological and immunohistochemical images.

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Authors and Affiliations

  1. Department of Pathology, Tohoku University Hospital, Sendai, Miyagi, Japan

    Hirofumi Watanabe, Yayoi Aoyama & Hironobu Sasano

  2. Division of Pathology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi, Japan

    Kazuhiro Murakami, Keigo Murakami & Yasuhiro Nakamura

  3. Department of Pathology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome, Tokyo, Japan

    Toru Motoi

  4. Division of Chest Surgery, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi, Japan

    Hideki Mitomo, Naoya Ishibashi, Takashi Sugawara & Toshiharu Tabata

  5. Division of Radiology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi, Japan

    Tomonori Matsuura

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  1. Hirofumi Watanabe
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  2. Kazuhiro Murakami
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  4. Keigo Murakami
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  11. Hironobu Sasano
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Contributions

HW, KM, KK, and YN drafted the manuscript and figures. YA prepared images of fluorescence in situ hybridization and double staining. TM prepared the radiographical images. NI, TS, ST, TM, TM, and HS reviewed the manuscript.

Corresponding author

Correspondence to Hirofumi Watanabe.

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Ethics approval

This study was conducted in accordance with the ethical standards and requirements of Tohoku University (Miyagi, Japan) and Tohoku Medical and Pharmaceutical University (Miyagi, Japan).

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The authors declare no competing interests.

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This work was carried out at the Department of Pathology, Tohoku University Hospital, 980-8574, 1-1 Seiryo-machi, Aoba-ku, Miyagi-ken, Sendai, Japan.

Supplementary information

Supplementary Fig. 1.

Light micrographs with double staining for CAMTA1 and a) MPO, b) CD42b, or c) CD71. Brown stains represent CAMTA1 marker, while red stains represent MPO and CD42b or CD71 markers. Double-positive cells were not detected in bone marrow elements (blue arrow: CAMTA1-positive cells, red arrow: CD42b-positive cell, green arrow: CD71-positive cells, scale bar = 25 μm). MPO, myeloperoxidase (PNG 2646 kb)

High resolution image (TIFF 33972 kb)

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Watanabe, H., Murakami, K., Motoi, T. et al. Novel detection of the CAMTA1-WWTR1 fusion gene in extra-adrenal myelolipoma-like lesion: a case report. Virchows Arch 480, 707–712 (2022). https://doi.org/10.1007/s00428-021-03143-0

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  • DOI: https://doi.org/10.1007/s00428-021-03143-0

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