Victorian Melanoma Service, Alfred Hospital, Melbourne, Vic., Australia.
School of Public Health and Preventive Medicine, Monash University, Melbourne, Vic., Australia.
Pigment Cell Melanoma Res. 2018 Sep;31(5):592-603. doi: 10.1111/pcmr.12702. Epub 2018 Apr 15.
This study aimed to determine the frequency and concordance of BRAF and NRAS mutation in tumours arising in patients with multiple primary melanoma (MPM). Patients with MPM managed at one of three tertiary referral centres in Melbourne, Australia, from 2010 to 2015 were included. Incident and subsequent melanomas underwent mutation testing. Cohen's kappa (κ) coefficient assessed agreement between incident and subsequent primary melanomas for both BRAF and NRAS mutation status (mutant versus wild-type). Mutation testing of at least two primary tumours from 64 patients was conducted. There was poor agreement for both BRAF and NRAS mutation status between incident and subsequent melanomas (κ = 0.10, 95% CI -0.10 to 0.42; κ = 0.06, 95% CI -0.10 to 0.57, respectively). In view of the low concordance in BRAF mutation status between incident and subsequent melanomas, mutational analysis of metastatic tissue, rather than of a primary melanoma, in patients with MPM should be used to guide targeted therapy.
本研究旨在确定在患有多发性原发性黑素瘤（MPM）的患者中，肿瘤中 BRAF 和 NRAS 突变的频率和一致性。纳入了 2010 年至 2015 年在澳大利亚墨尔本的三个三级转诊中心之一接受治疗的 MPM 患者。对新发和随后的黑色素瘤进行了突变检测。Cohen's kappa（κ）系数评估了 BRAF 和 NRAS 突变状态（突变型与野生型）在新发和随后的原发性黑色素瘤之间的一致性。对 64 例患者的至少两个原发性肿瘤进行了突变检测。新发和随后的黑色素瘤之间 BRAF 和 NRAS 突变状态的一致性较差（κ=0.10，95%CI-0.10 至 0.42；κ=0.06，95%CI-0.10 至 0.57）。鉴于新发和随后的黑色素瘤之间 BRAF 突变状态的低一致性，对于 MPM 患者，应使用转移性组织的突变分析，而不是原发性黑色素瘤的突变分析，来指导靶向治疗。
