首页 > 期刊杂志 > 正文

Molecular and Immunohistochemical Characterization Reveals Novel BRAF Mutations in Metanephric Adenoma.

分子和免疫组化特征揭示后肾性腺瘤新的BRAF突变

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

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.

摘要

后肾性腺瘤(MA)是一种罕见的良性肾肿瘤,是由原始肾源性小管细胞肿瘤性增生组成。以前研究显示BRAF V600E突变可见于近90%MA,而类似的BRAF外显子15突变在其他常见的肾肿瘤包括肾细胞癌和嗜酸细胞瘤非常罕见。最近随访研究证实了BRAF V600E免疫组化可在少数MA中检出。本文我们扩大了检测病例并证实BRAF V600E免疫组化具有88%敏感性和100%特异性。另外,我们报道了2例伴有新的BRAF外显子15突变的MA,包括V660D无义突变和V600D和K601L组合的无义突变。最后,我们应用组织微阵列对常见的肾肿瘤进行了BRAF V600E免疫组化检测,发现在几种肾细胞癌亚型中没有明显表达。这些资料支持了BRAF V600E免疫组化在诊断困难的MA病例中的作用,而且扩展了BRAF 外显子15在这种少见而独特的肾肿瘤中的突变谱。

full text

我要评论

0条评论