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Radiogenomics of clear cell renal cell carcinoma: preliminary findings of The Cancer Genome Atlas–Renal Cell Carcinoma (TCGA–RCC) Imaging Research Group

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Abstract

Purpose

To investigate associations between imaging features and mutational status of clear cell renal cell carcinoma (ccRCC).

Materials and methods

This multi-institutional, multi-reader study included 103 patients (77 men; median age 59 years, range 34–79) with ccRCC examined with CT in 81 patients, MRI in 19, and both CT and MRI in three; images were downloaded from The Cancer Imaging Archive, an NCI-funded project for genome-mapping and analyses. Imaging features [size (mm), margin (well-defined or ill-defined), composition (solid or cystic), necrosis (for solid tumors: 0%, 1%–33%, 34%–66% or >66%), growth pattern (endophytic, <50% exophytic, or ≥50% exophytic), and calcification (present, absent, or indeterminate)] were reviewed independently by three readers blinded to mutational data. The association of imaging features with mutational status (VHL, BAP1, PBRM1, SETD2, KDM5C, and MUC4) was assessed.

Results

Median tumor size was 49 mm (range 14–162 mm), 73 (71%) tumors had well-defined margins, 98 (95%) tumors were solid, 95 (92%) showed presence of necrosis, 46 (45%) had ≥50% exophytic component, and 18 (19.8%) had calcification. VHL (n = 52) and PBRM1 (n = 24) were the most common mutations. BAP1 mutation was associated with ill-defined margin and presence of calcification (p = 0.02 and 0.002, respectively, Pearson’s χ 2 test); MUC4 mutation was associated with an exophytic growth pattern (p = 0.002, Mann–Whitney U test).

Conclusions

BAP1 mutation was associated with ill-defined tumor margins and presence of calcification; MUC4 mutation was associated with exophytic growth. Given the known prognostic implications of BAP1 and MUC4 mutations, these results support using radiogenomics to aid in prognostication and management.

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Acknowledgements

Image data used in this research were obtained from The Cancer Imaging Archive (http://cancerimagingarchive.net/) sponsored by the Cancer Imaging Program, Division of Cancer Treatment and Diagnosis (DCTD)/National Cancer Institute (NCI)/National Institutes of Health (NIH). This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. We thank Alessandro Furlan, MD for participating as a study reader. We thank Ms. Brenda Fevrier-Sullivan from NCI for administrative support.

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Authors and Affiliations

  1. Brigham and Women’s Hospital, Boston, MA, USA

    Atul B. Shinagare, Nisha I. Sainani, Cheryl A. Sadow & Stuart G. Silverman

  2. University of Texas MD Anderson Cancer Center, Houston, TX, USA

    Raghu Vikram & Tharakeswara K. Bathala

  3. Boston Medical Center, Boston, MA, USA

    Carl Jaffe

  4. Memorial Sloan Kettering Cancer Center, New York, NY, USA

    Oguz Akin

  5. National Cancer Institute, Bethesda, USA

    Justin Kirby, Erich Huang & John Freymann

  6. Stanford University School of Medicine, Stanford, CA, USA

    Daniel L. Rubin

  7. University of Chicago, Chicago, IL, USA

    Aytekin Oto

  8. University of Pittsburgh Medical Center, Pittsburgh, PA, USA

    Matthew T. Heller

  9. University of Texas Health Science Center, Houston, TX, USA

    Venkateswar R. Surabhi

  10. University of Texas Health Science Center, San Antonio, TX, USA

    Venkat Katabathina

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  1. Atul B. Shinagare
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Correspondence to Atul B. Shinagare.

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Shinagare, A.B., Vikram, R., Jaffe, C. et al. Radiogenomics of clear cell renal cell carcinoma: preliminary findings of The Cancer Genome Atlas–Renal Cell Carcinoma (TCGA–RCC) Imaging Research Group. Abdom Imaging 40, 1684–1692 (2015). https://doi.org/10.1007/s00261-015-0386-z

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