Jones Angela M, Ferguson Peter, Gardner Jacqui, Rooker Serena, Sutton Tim, Ahn Antonio, Chatterjee Aniruddha, Bickley Vivienne M, Sarwar Makhdoom, Emanuel Patrick, Kenwright Diane, Shepherd Peter R, Eccles Michael R
Capital and Coast District Health Board, Wellington, New Zealand.
Department of Pathology and Molecular Medicine, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
Oncotarget. 2016 Jul 5;7(27):41017-41030. doi: 10.18632/oncotarget.9351.
Melanoma, the most aggressive skin cancer type, is responsible for 75% of skin cancer related deaths worldwide. Given that New Zealand (NZ) has the world's highest melanoma incidence, we sought to determine the frequency of mutations in NZ melanomas in recurrently mutated genes. NZ melanomas were from localities distributed between North (35°S-42°S) and South Islands (41°S-47°S). A total of 529 melanomas were analyzed for BRAF exon 15 mutations by Sanger sequencing, and also by Sequenom MelaCarta MassARRAY. While, a relatively low incidence of BRAFV600E mutations (23.4%) was observed overall in NZ melanomas, the incidence of NRAS mutations in South Island melanomas was high compared to North Island melanomas (38.3% vs. 21.9%, P=0.0005), and to The Cancer Genome Atlas database (TCGA) (38.3% vs. 22%, P=0.0004). In contrast, the incidence of EPHB6G404S mutations was 0% in South Island melanomas, and was 7.8% in North Island (P=0.0002). Overall, these data suggest that melanomas from geographically different regions in NZ have markedly different mutation frequencies, in particular in the NRAS and EPHB6 genes, when compared to TCGA or other populations. These data have implications for the causation and treatment of malignant melanoma in NZ.
黑色素瘤是最具侵袭性的皮肤癌类型,在全球范围内,它导致了75%的皮肤癌相关死亡。鉴于新西兰(NZ)的黑色素瘤发病率位居世界之首,我们试图确定新西兰黑色素瘤中反复突变基因的突变频率。新西兰的黑色素瘤来自分布于北岛(南纬35° - 42°)和南岛(南纬41° - 47°)的不同地区。通过桑格测序以及Sequenom MelaCarta MassARRAY技术,对总共529例黑色素瘤进行了BRAF外显子15突变分析。虽然在新西兰黑色素瘤中总体观察到BRAFV600E突变的发生率相对较低(23.4%),但与北岛黑色素瘤相比,南岛黑色素瘤中NRAS突变的发生率较高(38.3% 对 21.9%,P = 0.0005),与癌症基因组图谱数据库(TCGA)相比也是如此(38.3% 对 22%,P = 0.0004)。相反,EPHB6 G404S突变在南岛黑色素瘤中的发生率为0%,在北岛为7.8%(P = 0.0002)。总体而言,这些数据表明,与TCGA或其他人群相比,新西兰地理上不同区域的黑色素瘤具有明显不同的突变频率,特别是在NRAS和EPHB6基因中。这些数据对新西兰恶性黑色素瘤的病因和治疗具有启示意义。