Application of Next-generation Sequencing Detecting Gene Mutation in Myelodysplastic Syndromes: Current Situation and Problems

Abstract

The next-generation sequencing detecting gene mutation has been recommended for the routine diagnosis of suspicious myelodysplastic symdromes patients. Recently, several pre-MDS conditions, a new subtype MDS with SF3B1, gene mutations integrated prognosis scores and gene mutations-based clinical decision-making and treatment choice were proposed. Nowadays, it is a big problem to standardize the generation, analysis, clinical interpretation and reporting of NGS data in China. It will open new horizons for individualized medicine of patients with MDS in the future by implementing integrated genomics into the diagnostic and treatment algorithms.

Keywords

• next-generation sequencing
• myelodysplastic syndromes
• gene mutations