Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders.
- Kralovics R Department of Research, Experimental Hematology, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.
- Teo SS
- Li S
- Theocharides A
- Buser AS
- Tichelli A
- Skoda RC
- 2006-05-06
Published in:
- Blood. - 2006
Adolescent
Adult
Aged
Aged, 80 and over
Amino Acid Substitution
Blood Platelets
Chromosomes, Human, Pair 20
Chromosomes, Human, X
DNA Mutational Analysis
Female
Genetic Markers
Granulocytes
Hematopoiesis
Humans
Janus Kinase 2
Male
Middle Aged
Myeloproliferative Disorders
Point Mutation
Protein-Tyrosine Kinases
Proto-Oncogene Proteins
English
An acquired gain-of-function mutation in the Janus kinase 2 (JAK2-V617F) is frequently found in patients with myeloproliferative disorders (MPDs). To test the hypothesis that JAK2-V617F is the disease-initiating mutation, we examined whether all cells of clonal origin carry the JAK2-V617F mutation. Using allele-specific polymerase chain reaction (PCR) assays for the JAK2 mutation and for the X-chromosomal clonality markers IDS and MPP1, we found that the percentage of granulocytes and platelets with JAK2-V617F was often markedly lower than the percentage of clonal granulocytes determined by IDS or MPP1 clonality assays in female patients. Using deletions of chromosome 20q (del20q) as an autosomal, X-chromosome-independent clonality marker, we found a similar discrepancy between the percentage of cells carrying JAK2-V617F and del20q. Our results suggest that in a proportion of patients with MPDs, JAK2-V617F occurs on the background of clonal hematopoiesis caused by a somatic mutation in an as-yet-unknown gene.
- Language
-
- English
- Open access status
- green
- Identifiers
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- DOI 10.1182/blood-2005-11-009605
- PMID 16675710
- Persistent URL
- https://sonar.ch/global/documents/92645
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