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Low-grade endometrial stromal sarcoma with a novel MEAF6-SUZ12 fusion

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Abstract

Endometrial stromal sarcoma (ESS) is a rare mesenchymal neoplasm. Herein, we report a low-grade ESS with a novel MEAF6-SUZ12 fusion gene. A 40-year-old woman presented with a 9.0-cm abdominal wall mass juxtaposed to the postoperative scar of surgeries for uterine “leiomyomas” and cesarean section. Histologically, mostly hypocellular and myxoid nodules were comprised of uniform spindle cells and exhibited tongue-like infiltration. Immunohistochemically, the tumor cells were positive for CD10, estrogen receptor, and CD34 (focal). There were occasional h-caldesmon-positive cohesive nests. RNA sequencing along with reverse transcriptase-polymerase chain reaction and Sanger sequencing identified an in-frame fusion of MEAF6 (exon 4) and SUZ12 (exon 2). Upon review of the previous “leiomyomas,” we revised their diagnoses as low-grade ESS. The patient is alive without disease 2 years after the surgery. In addition to expanding the molecular landscape of low-grade ESS, this case highlights the challenge of diagnosing low-grade ESS in an uncommon clinicopathological setting.

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Acknowledgements

The authors thank Sachiko Miura, Toshiko Sakaguchi, Chizu Kina, and Sachiyo Mitani for superb technical assistance.

Funding

This work was supported in part by JSPS Grant-in-Aid for Young Scientists (18K15108 and 18K15110), by a Grant-in-Aid for Practical Research for Innovative Cancer Control from AMED (17ck0106168h0003), and by a National Cancer Center Research and Development Fund (29-A-2).

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Authors and Affiliations

  1. Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan

    Naohiro Makise, Hiroshi Yoshida & Akihiko Yoshida

  2. Department of Pathology, the University of Tokyo, Tokyo, Japan

    Naohiro Makise & Masashi Fukayama

  3. Department of Clinical Genomics, National Cancer Center Research Institute, Tokyo, Japan

    Masaya Sekimizu & Hitoshi Ichikawa

  4. Department of Musculoskeletal Oncology, National Cancer Center Hospital, Tokyo, Japan

    Eisuke Kobayashi & Akira Kawai

  5. Rare Cancer Center, National Cancer Center Hospital, Tokyo, Japan

    Eisuke Kobayashi, Tomoyasu Kato, Akira Kawai & Akihiko Yoshida

  6. Department of Gynecologic Oncology, National Cancer Center Hospital, Tokyo, Japan

    Tomoyasu Kato

  7. Division of Translational Genomics, Exploratory Oncology Research and Clinical Trial Center, National Cancer Center, Tokyo, Japan

    Hitoshi Ichikawa

Authors
  1. Naohiro Makise
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  2. Masaya Sekimizu
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  3. Eisuke Kobayashi
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  4. Hiroshi Yoshida
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  5. Masashi Fukayama
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  6. Tomoyasu Kato
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  7. Akira Kawai
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  8. Hitoshi Ichikawa
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  9. Akihiko Yoshida
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Contributions

NM and AY conceived and designed the study, and wrote, edited, and reviewed the manuscript. NM, HY, and AY did histological assessment. MS and HI did molecular analyses. EK, TK, and AK collected clinical samples. MF supported the study. All authors gave final approval for publication.

Corresponding author

Correspondence to Akihiko Yoshida.

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The study was approved by the institutional review board (2014–089).

Conflict of interest

The authors declare that they have no conflict of interest.

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Makise, N., Sekimizu, M., Kobayashi, E. et al. Low-grade endometrial stromal sarcoma with a novel MEAF6-SUZ12 fusion. Virchows Arch 475, 527–531 (2019). https://doi.org/10.1007/s00428-019-02588-8

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  • DOI: https://doi.org/10.1007/s00428-019-02588-8

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