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

Atul B. Shinagare, Raghu Vikram, Carl Jaffe, Oguz Akin, Justin Kirby, Erich Huang, John Freymann, Nisha I. Sainani, Cheryl A. Sadow, Tharakeswara K. Bathala, Daniel L. Rubin, Aytekin Oto, Matthew T. Heller, Venkateswar R. Surabhi, Venkat Katabathina, Stuart G. Silverman

    Research output: Contribution to journalArticlepeer-review

    82 Scopus citations

    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 χ2 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.

    Original languageEnglish (US)
    Pages (from-to)1684-1692
    Number of pages9
    JournalAbdominal Imaging
    Volume40
    Issue number6
    DOIs
    StatePublished - Aug 12 2015

    Keywords

    • CT
    • Clear cell renal cell carcinoma
    • MRI
    • Mutational status
    • Radiogenomics

    ASJC Scopus subject areas

    • Radiological and Ultrasound Technology
    • Radiology Nuclear Medicine and imaging
    • Gastroenterology
    • Urology

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