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  • Title: Molecular and immunohistochemical characterization reveals novel BRAF mutations in metanephric adenoma.
    Author: Udager AM, Pan J, Magers MJ, Palapattu GS, Morgan TM, Montgomery JS, Weizer AZ, Hafez KS, Miller DC, Wolf JS, McHugh JB, Chinnaiyan AM, Dhanasekaran SM, Mehra R.
    Journal: Am J Surg Pathol; 2015 Apr; 39(4):549-57. PubMed ID: 25602792.
    Abstract:
    Metanephric adenoma (MA) is a rare benign renal tumor comprised of a neoplastic proliferation of primitive metanephric tubular cells. A previous study identified BRAF V600E mutations in approximately 90% of MA and found that similar BRAF exon 15 mutations are exceedingly rare in other common renal tumors, including renal cell carcinoma and oncocytoma. A recent follow-up study has validated mutation-specific immunohistochemistry (IHC) for detection of BRAF V600E mutations in a small cohort of MA. Here, we extend these findings to a larger, independent cohort of MA, demonstrating an overall 88% sensitivity and 100% specificity for BRAF V600E IHC. In addition, we report 2 cases of MA with novel BRAF exon 15 mutations, including a V600D missense mutation and a compound V600D and K601L missense mutation. Finally, we evaluate BRAF V600E IHC in a large tissue microarray cohort of common renal tumors and find no significant expression in several renal cell carcinoma subtypes. These data support a role for BRAF V600E IHC in diagnostically challenging cases of MA and expand the spectrum of BRAF exon 15 mutations in this uncommon but unique renal neoplasm.
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