John Wen-Cheng Chang1,2, Jia-Juan Hsieh3, Chiao-En Wu3, Abner Herbert Lim4,5, Cedric Chuan-Young Ng4,5, Bin Tean Teh5,6, Jason Yongsheng Chan7,8. 1. Division of Hematology-Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital at Linkou, Chang Gung University College of Medicine, Taoyuan, Taiwan, R.O.C.; wen1902@hotmail.com jason.chan.y.s@nccs.com.sg. 2. Immuno-Oncology Center of Excellence, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan, R.O.C. 3. Division of Hematology-Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital at Linkou, Chang Gung University College of Medicine, Taoyuan, Taiwan, R.O.C. 4. Integrated Genomics Platform, National Cancer Centre, Singapore, Singapore. 5. Laboratory of Cancer Epigenome, National Cancer Centre, Singapore, Singapore. 6. Oncology Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore. 7. Oncology Academic Clinical Program, Duke-NUS Medical School, Singapore, Singapore; wen1902@hotmail.com jason.chan.y.s@nccs.com.sg. 8. Division of Medical Oncology, National Cancer Centre, Singapore, Singapore.
Abstract
BACKGROUND/AIM: Acral melanomas (AM) represent a rare subgroup of melanomas with poor clinical outcomes and are enriched in Asian populations. Recent advances in next generation sequencing have provided opportunities to apply precision medicine to AM. PATIENTS AND METHODS: Here, we present a series of 13 patients with melanomas from Taiwan and Singapore, including 8 patients with AM profiled using whole exome sequencing and summarize the recent studies on the genomic landscape of AM. RESULTS: We identified mutually exclusive mutations in BRAF, NRAS, HRAS, NF1 and KIT in 6 AM cases. In addition, recurrent copy number gains in CCND1 and CDK4, as well as recurrent deletions in CDKN2A/CDKN2B, ATM and RAD51 were observed, supporting the potential use of CDK4/6 or PARP inhibitors in the treatment of these patients. CONCLUSION: The genomic landscape of AM provides an important resource for applying novel targeted therapies in this rare disease. Copyright
BACKGROUND/AIM: Acral melanomas (AM) represent a rare subgroup of melanomas with poor clinical outcomes and are enriched in Asian populations. Recent advances in next generation sequencing have provided opportunities to apply precision medicine to AM. PATIENTS AND METHODS: Here, we present a series of 13 patients with melanomas from Taiwan and Singapore, including 8 patients with AM profiled using whole exome sequencing and summarize the recent studies on the genomic landscape of AM. RESULTS: We identified mutually exclusive mutations in BRAF, NRAS, HRAS, NF1 and KIT in 6 AM cases. In addition, recurrent copy number gains in CCND1 and CDK4, as well as recurrent deletions in CDKN2A/CDKN2B, ATM and RAD51 were observed, supporting the potential use of CDK4/6 or PARP inhibitors in the treatment of these patients. CONCLUSION: The genomic landscape of AM provides an important resource for applying novel targeted therapies in this rare disease. Copyright