title: Radiogenomics of clear cell renal cell carcinoma: preliminary findings of The Cancer Genome Atlas-Renal Cell Carcinoma (TCGA-RCC) Imaging Research Group.
abstract: OBJECTIVE
  To investigate associations between imaging features and mutational status of clear cell renal cell carcinoma (ccRCC).
  
  
  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.
authors.affiliation: Brigham and Women's Hospital, Boston, MA, USA, ashinagare@partners.org.
authors.forename: Atul B
authors.initials: AB
authors.lastname: Shinagare
authors.forename: Raghu
authors.initials: R
authors.lastname: Vikram
authors.forename: Carl
authors.initials: C
authors.lastname: Jaffe
authors.forename: Oguz
authors.initials: O
authors.lastname: Akin
authors.forename: Justin
authors.initials: J
authors.lastname: Kirby
authors.forename: Erich
authors.initials: E
authors.lastname: Huang
authors.forename: John
authors.initials: J
authors.lastname: Freymann
authors.forename: Nisha I
authors.initials: NI
authors.lastname: Sainani
authors.forename: Cheryl A
authors.initials: CA
authors.lastname: Sadow
authors.forename: Tharakeswara K
authors.initials: TK
authors.lastname: Bathala
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Rubin
authors.forename: Aytekin
authors.initials: A
authors.lastname: Oto
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Heller
authors.forename: Venkateswar R
authors.initials: VR
authors.lastname: Surabhi
authors.forename: Venkat
authors.initials: V
authors.lastname: Katabathina
authors.forename: Stuart G
authors.initials: SG
authors.lastname: Silverman
mesh_terms: D000328:Adult; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D016678:Genome / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging* / Q000473:pathology*; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D015588:Observer Variation; D015203:Reproducibility of Results; D014057:Tomography, X-Ray Computed