Genetic Mutation Spectrum In A Cohort Of Chinese Mds/Mpn Patients Revealed By Targeted Next Generation Sequencing

Introduction:The myelodysplastic/myeloproliferative neoplasm (MDS/MPN) are a unique group of hematologic malignancies characterized by overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms. According to the 2016 WHO classification, the category includes atypical chronic myeloid leukemia (aCML), chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), MDS/MPN-unclassifiable (MDS/MPN-U), and refractory anemia with ring sideroblasts and thrombocytosis (RARS-T). The recent adaptation of next generation sequencing (NGS) in genetic testing increase our ability to use molecular approaches in the diagnosis and classification of MDS/MPN. This study aims to reveal the genetic mutation spectrum among different subgroups of Chinese MDS/MPN patients by a NGS-based targeted gene panel.