Ponti Giovanni, Tomasi Aldo, Maiorana Antonio, Ruini Cristel, Maccaferri Monia, Cesinaro Anna M, Depenni Roberta, Manni Paola, Gelsomino Fabio, Giusti Francesca, Garagnani Lorella, Pellacani Giovanni
Departments of *Clinical and Diagnostic Medicine and Public Health †Pathology ‡Dermatology §Oncology, University of Modena and Reggio Emilia, Modena, Italy.
Appl Immunohistochem Mol Morphol. 2016 Jan;24(1):30-4. doi: 10.1097/PAI.0000000000000153.
Although the detection of BRAF p.V600E mutation by immunohistochemistry was clearly described in melanoma, discordant evidences were reported for the detection of p.V600K and p.V600R mutations. The aim of the study was to evaluate the efficacy of BRAFp.V600E, p.V600K, and p.V600R detection by immunohistochemistry in melanoma.
Immunohistochemistry with VE1 antibody was performed on 18 tissue samples of metastatic melanomas with known BRAF mutational status.
The concordance rate of immunohistochemistry was 100% for p.V600E mutation. In contrast, the 7 p.V600K-mutated melanomas were scored as negative. p.V600K-mutated melanomas were significantly associated with older age, male sex, and worst clinical outcome.
Immunohistochemistry could efficaciously be adopted as a first step for the detection of BRAFp.V600E mutation in the initial selection of patients with advanced melanomas as candidates for BRAF inhibitors. It should be followed by molecular techniques in p.V600E-negative melanomas, for the specific search of p.V600K and other non-p.V600E BRAF mutations.
尽管免疫组织化学检测BRAF p.V600E突变在黑色素瘤中已有明确描述，但关于p.V600K和p.V600R突变检测的证据存在不一致。本研究的目的是评估免疫组织化学检测黑色素瘤中BRAF p.V600E、p.V600K和p.V600R突变的有效性。
对18例已知BRAF突变状态的转移性黑色素瘤组织样本进行VE1抗体免疫组织化学检测。
p.V600E突变的免疫组织化学符合率为100%。相比之下，7例p.V600K突变的黑色素瘤被判定为阴性。p.V600K突变的黑色素瘤与年龄较大、男性以及较差的临床结局显著相关。
在晚期黑色素瘤患者作为BRAF抑制剂候选者的初始筛选中，免疫组织化学可有效地作为检测BRAF p.V600E突变的第一步。对于p.V600E阴性的黑色素瘤，应继以分子技术，以特异性检测p.V600K和其他非p.V600E BRAF突变。
