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A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negative and V617F-negative chronic myeloproliferative neoplasms revealed by a comprehensive screening of 17 tyrosine kinase coding genes
- Source :
- Cancer Genetics and Cytogenetics. 199:1-8
- Publication Year :
- 2010
- Publisher :
- Elsevier BV, 2010.
-
Abstract
- BCR/ABL1-negative chronic myeloproliferative neoplasms (CMPNs) are a heterogeneous group of clonal hematological malignancies. Over recent years, some genetic events in tyrosine kinase (TK) genes have been described as causal events of these diseases. To identify new genetic aberrations underlying these diseases, we used denaturing high performance liquid chromatography and fluorescence in situ hybridization (FISH) to analyze 17 genes from two receptor-TK families (III and IV) and from three cytoplasmic-TK families (Syk, Abl, and Jak) on samples from 44 BCR/ABL1-negative and JAK2(V617F)-negative CMPN patients with different clinical phenotypes. Although screening by FISH did not reveal novel chromosomal aberrations, several sequence changes were detected. None of them were frequent events, but we identified a new potential activating mutation in the FERM domain of JAK2(R340Q). None of the germline JAK2(V617F) single-nucleotide polymorphisms detected differed in distribution between patients and control subjects. In summary, data presented here show that these genes are not frequently mutated or rearranged in CMPNs, suggesting that molecular events causing these disorders must be located in other genes.
- Subjects :
- Male
Cancer Research
Molecular Sequence Data
Fusion Proteins, bcr-abl
Syk
Biology
Polymorphism, Single Nucleotide
Denaturing high performance liquid chromatography
hemic and lymphatic diseases
Genetics
medicine
Humans
Genetic Predisposition to Disease
Amino Acid Sequence
Genetic Testing
Molecular Biology
Gene
In Situ Hybridization, Fluorescence
Myeloproliferative Disorders
ABL
Base Sequence
medicine.diagnostic_test
FERM domain
breakpoint cluster region
Exons
Oncogenes
Janus Kinase 2
Protein Structure, Tertiary
Case-Control Studies
Chronic Disease
Mutation
Cancer research
Female
Tyrosine kinase
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 01654608
- Volume :
- 199
- Database :
- OpenAIRE
- Journal :
- Cancer Genetics and Cytogenetics
- Accession number :
- edsair.doi.dedup.....24ca5177f9a851b09a27bb79929d4f7d