Incidence of c-Cbl mutations in human acute myeloid leukaemias in an Australian patient cohort
Aim: The aim of this study was to investigate the incidence and characteristics of c-Cbl mutations in acute myeloid leukaemias (AMLs) from an Australian patient cohort. Two initial studies examining c-Cbl mutations in AML, one from Germany and one from the US, found vastly different incidences of mu...
| Main Authors: | , , , , , , |
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| Format: | Journal Article |
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2011
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| Online Access: | http://hdl.handle.net/20.500.11937/37066 |
| _version_ | 1848754944784465920 |
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| author | Ghassemifar, Reza Thien, C. Finlayson, J. Joske, D. Cull, G. Augustson, B. Langdon, W. |
| author_facet | Ghassemifar, Reza Thien, C. Finlayson, J. Joske, D. Cull, G. Augustson, B. Langdon, W. |
| author_sort | Ghassemifar, Reza |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Aim: The aim of this study was to investigate the incidence and characteristics of c-Cbl mutations in acute myeloid leukaemias (AMLs) from an Australian patient cohort. Two initial studies examining c-Cbl mutations in AML, one from Germany and one from the US, found vastly different incidences of mutations (0.6% compared to 33%, respectively). Therefore, it was important to determine the incidence and characteristics of c-Cbl mutations in a cohort of Australian AML patients. Methods: Ninety patients with AML were investigated. The open reading frame between exons 4 and 11 of the c-Cbl gene was analysed by reverse-transcription polymerase chain reaction (RT-PCR), nested PCR and DNA sequencing. Results: We found four AML samples (4/90; 4.44%) with distinct c-Cbl deletions involving exons 6 to 9. Sample 10 [AML with t(8;21)] showed two deletions [c.870-1007del] and [c.1106-1228del]. Sample 81 (AML with minimal differentiation) showed a large deletion [c.1008-1431del] causing a frameshift and a premature stop codon. Sample 82 (AML without maturation) showed two deletions [c.928- 1307del] and [c.1385-1431del] also causing a frameshift and a premature stop codon. Sample 84 (AML with myelodysplasia related changes) showed a large deletion [c.964-1380del]. Conclusion: Although our data indicate that c-Cbl deletions are not common in AML in the Australian population, they do raise the possibility that c-Cbl mutations might contribute to the pathogenesis of these AML cases. © 2011 Royal College of Pathologists of Australasia. |
| first_indexed | 2025-11-14T08:48:28Z |
| format | Journal Article |
| id | curtin-20.500.11937-37066 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T08:48:28Z |
| publishDate | 2011 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-370662017-09-13T15:24:21Z Incidence of c-Cbl mutations in human acute myeloid leukaemias in an Australian patient cohort Ghassemifar, Reza Thien, C. Finlayson, J. Joske, D. Cull, G. Augustson, B. Langdon, W. Aim: The aim of this study was to investigate the incidence and characteristics of c-Cbl mutations in acute myeloid leukaemias (AMLs) from an Australian patient cohort. Two initial studies examining c-Cbl mutations in AML, one from Germany and one from the US, found vastly different incidences of mutations (0.6% compared to 33%, respectively). Therefore, it was important to determine the incidence and characteristics of c-Cbl mutations in a cohort of Australian AML patients. Methods: Ninety patients with AML were investigated. The open reading frame between exons 4 and 11 of the c-Cbl gene was analysed by reverse-transcription polymerase chain reaction (RT-PCR), nested PCR and DNA sequencing. Results: We found four AML samples (4/90; 4.44%) with distinct c-Cbl deletions involving exons 6 to 9. Sample 10 [AML with t(8;21)] showed two deletions [c.870-1007del] and [c.1106-1228del]. Sample 81 (AML with minimal differentiation) showed a large deletion [c.1008-1431del] causing a frameshift and a premature stop codon. Sample 82 (AML without maturation) showed two deletions [c.928- 1307del] and [c.1385-1431del] also causing a frameshift and a premature stop codon. Sample 84 (AML with myelodysplasia related changes) showed a large deletion [c.964-1380del]. Conclusion: Although our data indicate that c-Cbl deletions are not common in AML in the Australian population, they do raise the possibility that c-Cbl mutations might contribute to the pathogenesis of these AML cases. © 2011 Royal College of Pathologists of Australasia. 2011 Journal Article http://hdl.handle.net/20.500.11937/37066 10.1097/PAT.0b013e328343ca4b restricted |
| spellingShingle | Ghassemifar, Reza Thien, C. Finlayson, J. Joske, D. Cull, G. Augustson, B. Langdon, W. Incidence of c-Cbl mutations in human acute myeloid leukaemias in an Australian patient cohort |
| title | Incidence of c-Cbl mutations in human acute myeloid leukaemias in an Australian patient cohort |
| title_full | Incidence of c-Cbl mutations in human acute myeloid leukaemias in an Australian patient cohort |
| title_fullStr | Incidence of c-Cbl mutations in human acute myeloid leukaemias in an Australian patient cohort |
| title_full_unstemmed | Incidence of c-Cbl mutations in human acute myeloid leukaemias in an Australian patient cohort |
| title_short | Incidence of c-Cbl mutations in human acute myeloid leukaemias in an Australian patient cohort |
| title_sort | incidence of c-cbl mutations in human acute myeloid leukaemias in an australian patient cohort |
| url | http://hdl.handle.net/20.500.11937/37066 |