Abstract

Abstract

Aim: To analyze the distribution of gene mutations in myeloid neoplasias, based on next generating sequencing technology (NGS) and evaluate the clinical implications and impact of risk stratifications.
Materials and Methods: 67 bone marrow samples that belongs to 48 different patient who were diagnosed with myeloid neoplasia and tested with 30 gene myeloid panel by NGS in our center were evaluated retrospectively. Distribution of genomic alterations and clinical implications were compared in different groups.
Results: Samples were separated in to different groups according to the diagnostic categories. Most common diagnosis was AML with the rate of 58.3%. FLT3 mutation was the most common mutation in AML and all patient group. After the incorporation of the NGS results into the prognostic classification in newly diagnosed AML group, there were 47.1% upstaging or downstaging effect on ELN risk groups.
Conclusion: Analyzing the mutation profiles with NGS technic in myeloid neoplasias has an important and remarkable effect on diagnosis and management of this group of diseases.

Key words: Key words: Next generating sequencing; myeloid neoplasia; myeloid panel; genetics