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Shinagare AB, Vikram R, Jaffe C, Akin O, Kirby J, Huang E, Freymann J, Sainani NI, Sadow CA, Bathala TK, Rubin DL, Oto A, Heller MT, Surabhi VR, Katabathina V, Silverman SG. (2014). Radiogenomics of Clear Cell Renal Cell Carcinoma: Preliminary Findings of The Cancer Genome Atlas-Renal Cell Carcinoma (TCGA-RCC) Research Group. The Cancer Imaging Archive. http://doi.org/10.7937/K9/TCIA.2014.K6M61GDW |
Description
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
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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
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49 mm (range 14-
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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 (
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n =
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52) and PBRM1 (
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n =
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24) were the most common mutations. BAP1 mutation was associated with ill-defined margin and presence of calcification (
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p =
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0.02 and 0.002, respectively, Pearson's
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x2 test); MUC4 mutation was associated with an exophytic growth pattern (
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p =
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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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