Identification of two novel mutations in human acute myeloid leukemia cases.
Gráinne O'BrienJoanna ŻyłaKalliopi N ManolaMaria N PagoniJoanna PolańskaChristophe BadiePublished in: Leukemia & lymphoma (2020)
Acute myeloid leukemia (AML) is an aggressive cancer that progresses rapidly with a poor prognosis. Cytogenetic analysis provides the most accurate determination of diagnosis and prognosis however, about 42-48% of AML patients have a cytogenetically normal karyotype. Genetic analysis can provide further information and the identification of new mutations could result in improved risk stratification, prognosis and better understanding of the mechanisms of AML leukaemogenesis. In this study, we analyzed genetic alterations in 16 human AML cases by Haloplex sequencing with confirmation of two previously unreported mutations in the genes DNMT3A and RUNX1 by Sanger sequencing or pyrosequencing. The two novel mutations consist of two frameshift mutations identified in two different AML patients and reported as deleterious by bioinformatic analysis. These mutations confirm the exclusion and co-occurrence of specific gene mutation patterns in AML and may provide further information for patient diagnosis and prognosis.
Keyphrases
- acute myeloid leukemia
- poor prognosis
- allogeneic hematopoietic stem cell transplantation
- end stage renal disease
- newly diagnosed
- endothelial cells
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- single cell
- genome wide
- transcription factor
- gene expression
- induced pluripotent stem cells
- patient reported outcomes
- high resolution
- papillary thyroid
- young adults
- copy number
- social media
- patient reported