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Imaging features and clinical course of undifferentiated round cell sarcomas with CIC-DUX4 and BCOR-CCNB3 translocations

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Abstract

Objective

To describe the pre-treatment imaging features and clinical course of undifferentiated round cell sarcomas with CIC-DUX4 and BCOR-CCNB3 translocations.

Materials and methods

In this retrospective study, several pre-treatment imaging features (tumor location, size, enhancement pattern, necrosis, flow voids, calcification, and FDG avidity) and the clinical course of patients were evaluated.

Results

In 12 patients with CIC-DUX4 sarcomas (median age, 24 years; range, 12–75), sarcomas were located in the soft tissue (n = 10), bone (n = 1), and lungs (n = 1). On MRI, all 10 CIC-DUX4 sarcomas presented as a large necrotic mass (mean size 6.7 cm, range 2.3–11.3) with 100% demonstrating contrast enhancement, 60% showing flow voids, and 20% demonstrating fluid-fluid levels. On PET, the mean SUVmax was 13.2 (range, 8.5–18.1). Among 12 patients with follow-up, 3 died within a year of diagnosis. The most common site of metastases was the lungs (5/12). In 5 patients with BCOR-CCNB3 sarcomas (median age, 14 years; range, 2–17), sarcomas were located in the spine (n = 2), femur (n = 1), tibia (n = 1), and pelvis (n = 1). On radiograph or CT, 2 were lytic, 3 were sclerotic. Soft tissue calcifications occurred in 40% of BCOR-CCNB3 sarcomas. On MRI, all 3 BCOR-CCNB3 tumors enhanced with 33% demonstrating flow voids and 66% exhibiting necrosis. On PET, the mean SUVmax was 6.3 (range 5.7–6.9).

Conclusion

CIC-DUX4 sarcomas often present as necrotic and hypermetabolic soft tissue masses while sarcomas with BCOR-CCNB3 translocations are vascular bone lesions with necrosis at imaging. CIC-DUX4 sarcomas are clinically more aggressive than BCOR-CCNB3 sarcomas.

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Acknowledgments

The authors thank Joanne Chin for her editorial support and Natalie Gangai for her assistance in data collection.

Funding

This study was supported in part through the National Institutes of Health/National Cancer Institute Cancer Center Support Grant P30 CA008748.

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Authors and Affiliations

  1. Department of Radiology, New York Presbyterian/Weill Cornell, 525 East 68th St, Box 141, New York, NY, 10065, USA

    Emily J. Brady

  2. Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY, 10065, USA

    Meera Hameed

  3. Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY, 10065, USA

    William D. Tap

  4. Department of Radiology, Memorial Sloan Kettering Cancer Center, 1275 York Ave, New York, NY, 10065, USA

    Sinchun Hwang

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  1. Emily J. Brady
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  2. Meera Hameed
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Correspondence to Sinchun Hwang.

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The authors declare that they have no conflict of interest.

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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. This article does not contain any studies with animals performed by any of the authors.

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The requirement for informed consent was waived for this study.

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Brady, E.J., Hameed, M., Tap, W.D. et al. Imaging features and clinical course of undifferentiated round cell sarcomas with CIC-DUX4 and BCOR-CCNB3 translocations. Skeletal Radiol 50, 521–529 (2021). https://doi.org/10.1007/s00256-020-03589-4

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  • DOI: https://doi.org/10.1007/s00256-020-03589-4

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