FLT3‐ITD mutations in acute myeloid leukaemia – molecular characteristics, distribution and numerical variation

Recurrent somatic internal tandem duplications (ITD) in the FMS‐like tyrosine kinase 3 (FLT3) gene characterise approximately one third of patients with acute myeloid leukaemia (AML), and FLT3‐ITD mutation status guides risk‐adapted treatment strategies. The aim of this work was to characterise FLT3...

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Bibliographic Details
Published in:Molecular oncology 2021-09, Vol.15 (9), p.2300-2317
Main Authors: Engen, Caroline, Hellesøy, Monica, Grob, Tim, Al Hinai, Adil, Brendehaug, Atle, Wergeland, Line, Bedringaas, Siv Lise, Hovland, Randi, Valk, Peter J. M., Gjertsen, Bjørn T.
Format: Article
Language:English
Subjects:
acute myeloid leukaemia
Acute myeloid leukemia
Adolescent
Adult
Aged
Aged, 80 and over
Alleles
Analysis
Blood
Blood cell count
Bone marrow
Capillary electrophoresis
Cloning
DNA sequencing
Enzymes
Female
FLT3‐ITD
fms-Like Tyrosine Kinase 3 - genetics
Gene Duplication
Gene Frequency
Gene mutations
Genetic aspects
Humans
length mutation
Leukemia
Leukemia, Myeloid, Acute - genetics
Leukemia, Myeloid, Acute - pathology
Male
Medical research
Middle Aged
Mutation
Nucleotide sequencing
outcome
Patients
prognosis
Protein-tyrosine kinase
Retrospective Studies
Stem cell transplantation
Survival Analysis
Young Adult
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Summary:Recurrent somatic internal tandem duplications (ITD) in the FMS‐like tyrosine kinase 3 (FLT3) gene characterise approximately one third of patients with acute myeloid leukaemia (AML), and FLT3‐ITD mutation status guides risk‐adapted treatment strategies. The aim of this work was to characterise FLT3‐ITD variant distribution in relation to molecular and clinical features, and overall survival in adult AML patients. We performed two parallel retrospective cohort studies investigating FLT3‐ITD length and expression by cDNA fragment analysis, followed by Sanger sequencing in a subset of samples. In the two cohorts, a total of 139 and 172 mutant alleles were identified in 111 and 123 patients, respectively, with 22% and 28% of patients presenting with more than one mutated allele. Further, 15% and 32% of samples had a FLT3‐ITD total variant allele frequency (VAF)
ISSN:1574-7891
1878-0261
DOI:10.1002/1878-0261.12961