Litcius/Paper detail

Genomic and Transcriptional Profiling of Chinese Melanoma Patients Enhanced Potentially Druggable Targets: A Multicenter Study

Yue Li, Baoming Wang, Chunyang Wang, Dandan Zhao, Zhengchuang Liu, Yan-Ling Niu, Xiaojuan Wang, Wei Li, Jianhua Zhu, Hou‐Quan Tao, Tonghui Ma, Tao Li

2022Cancers17 citationsDOIOpen Access PDF

Abstract

BACKGROUND: In contrast to Caucasian melanoma, which has been extensively studied, there are few studies on melanoma in Asian populations. Sporadic studies reported that only 40% of Asian melanoma patients could be druggable, which was much lower than that in Caucasians. More studies are required to refine this conclusion. METHODS: = 469) were sequentially sequenced by DNA-NGS and RNA-NGS. The genomic alterations were determined, and potentially actionable targets were investigated. RESULTS: fusions were first identified in melanoma. In addition, up to 11.7% (7/60) of patients in the undruggable group could be recognized as actionable by including RNA-NGS analysis. By comparing the fusion detection rate between DNA-NGS and RNA-NGS, all available samples after DNA-NGS detection were further verified by RNA-NGS. The use of RNA-NGS enhanced the proportion of druggable fusions from 2.56% to 17.27%. In total, the use of RNA-NGS increased the druggable proportion from 75% to 78%. CONCLUSIONS: In this study, we systemically analyzed the actionable landscape of melanoma in the largest Asian cohort. In addition, we first demonstrated how DNA and RNA sequential sequencing is essential in bringing clinical benefits to more patients with melanoma.

Topics & Concepts

DruggabilityMelanomaRNAMedicineDNADNA sequencinggenomic DNACancer researchComputational biologyBioinformaticsBiologyGeneticsGeneCutaneous Melanoma Detection and ManagementMelanoma and MAPK PathwaysCancer Genomics and Diagnostics