Pearlstein Michelle V, Zedek Daniel C, Ollila David W, Treece Amanda, Gulley Margaret L, Groben Pamela A, Thomas Nancy E
Department of Dermatology, UNC School of Medicine, Chapel Hill, NC, USA.
J Cutan Pathol. 2014 Sep;41(9):724-32. doi: 10.1111/cup.12364. Epub 2014 Jul 4.
BRAF mutation status, and therefore eligibility for BRAF inhibitors, is currently determined by sequencing methods. We assessed the validity of VE1, a monoclonal antibody against the BRAF V600E mutant protein, in the detection of mutant BRAF V600E melanomas as classified by DNA pyrosequencing.
The cases were 76 metastatic melanoma patients with only one known primary melanoma who had had BRAF codon 600 pyrosequencing of either their primary (n = 19), metastatic (n = 57) melanoma, or both (n = 17). All melanomas (n = 93) were immunostained with the BRAF VE1 antibody using a red detection system. The staining intensity of these specimens was scored from 0 to 3+ by a dermatopathologist. Scores of 0 and 1+ were considered as negative staining while scores of 2+ and 3+ were considered positive.
The VE1 antibody showed a sensitivity of 85% and a specificity of 100% as compared to DNA pyrosequencing results. There was 100% concordance between VE1 immunostaining of primary and metastatic melanomas from the same patient. V600K, V600Q, and V600R BRAF melanomas did not positively stain with VE1.
This hospital-based study finds high sensitivity and specificity for the BRAF VE1 immunostain in comparison to pyrosequencing in detection of BRAF V600E in melanomas.
BRAF突变状态以及因此使用BRAF抑制剂的资格目前通过测序方法确定。我们评估了一种针对BRAF V600E突变蛋白的单克隆抗体VE1在检测经DNA焦磷酸测序分类的BRAF V600E突变黑色素瘤中的有效性。
病例为76例转移性黑色素瘤患者，他们仅有一处已知的原发性黑色素瘤，对其原发性（n = 19）、转移性（n = 57）黑色素瘤或两者（n = 17）进行了BRAF密码子600焦磷酸测序。使用红色检测系统，用BRAF VE1抗体对所有黑色素瘤（n = 93）进行免疫染色。由一名皮肤病理学家对这些标本的染色强度从0至3 +进行评分。0分和1 +分被视为阴性染色，而2 +分和3 +分被视为阳性。
与DNA焦磷酸测序结果相比，VE1抗体显示出85%的敏感性和100%的特异性。同一患者原发性和转移性黑色素瘤的VE1免疫染色之间存在100%的一致性。V600K、V600Q和V600R BRAF黑色素瘤用VE1染色未呈阳性。
这项基于医院的研究发现，与焦磷酸测序相比，BRAF VE1免疫染色在检测黑色素瘤中的BRAF V600E时具有高敏感性和特异性。
