Application of Newly Customized Myeloid NGS Panel in the Diagnosis of Myeloid Malignancies.

ABSTRACT:

Purpose

Genetic mutations are major factors in the diagnosis and prognosis of leukemia, and it is difficult to assess these variants using single-gene analysis. Therefore, this study aimed to develop a fast and cost-effective method for genetic screening of myeloid malignancies using a customized next-generation sequencing (NGS) panel.

Patients and methods

A customized myeloid panel was designed and investigated in 15 acute myeloid leukemia patients. The panel included 11 genes that were most commonly mutated in myeloid malignancies. This panel was designed to sequence the complete genome of CALR, IDH1, IDH2, JAK2, FLT3, NPM1, MPL, TET2, SF3B1, TP53, and MLL.

Results

Among the 15 patients, 14 actual pathogenic variants were identified in nine samples, and negative res

SUBMITTER: Alkhatabi HA 

PROVIDER: S-EPMC10777859 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature