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Molecular and immunohistochemical characterization reveals novel BRAF mutations
in metanephric adenoma
#MMPMID25602792
Udager AM
; Pan J
; Magers MJ
; Palapattu GS
; Morgan TM
; Montgomery JS
; Weizer AZ
; Hafez KS
; Miller DC
; Wolf JS Jr
; McHugh JB
; Chinnaiyan AM
; Dhanasekaran SM
; Mehra R
Am J Surg Pathol
2015[Apr]; 39
(4
): 549-57
PMID25602792
show ga
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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