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Myeloid malignancies consist of a group of related hematopoietic stem cell /progenitor cell cancers, including acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS).
Stem cell diagnosis
Currently, the clinical diagnosis and risk stratification of AML relies on cytogenetic screening for structural genomic changes , as well as targeted screening for sequence-based prognosis and predictive genetic variation.
Screening
As more genomic features of clinically relevant myeloid malignancies are discovered, targeted clinical genetic testing is clearly insufficient for risk stratification.
Detection method based on clinical transcriptome detection method based on clinical transcriptome
The results showed that the comparison of transcriptome sequencing (RNA-Seq) with whole genome and exome sequencing showed that independent RNA-Seq assays provide the greatest diagnostic return , capable of identifying expressed gene fusions, single nucleotides, and short sequences.
Independent RNA-Seq assay provides the greatest diagnostic return Independent RNA-Seq assay provides the greatest diagnostic return
Experimental overview and short nucleotide variant analysis
Experimental overview and short nucleotide variant analysisThe expression data from 154 AML patients were used to develop a new AML prognostic score, which was closely related to the prognosis of patients among 620 patients in three independent cohorts and 42 patients in a prospective cohort .
Among 620 patients in three independent cohorts and 42 patients in a prospective cohort, the score was closely related to the prognosis of patients.
The researchers identified a subgroup of patients characterized by dysregulation of integrin signaling and mutations in RUNX1 or TP53.
Original source:
Original source:T.
T.
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