Contributions
Abstract: PB2135
Type: Publication Only
Background
Multiple myeloma is a hematological malignancy characterized by abnormal accumulation of clonal plasma cells in the bone marrow. Beside the complexity and heterogeneity of the disease, we and others attempt to molecularly identify the biomarkers of multiple myeloma aiming for early detection, risk-assessment, monitoring, and importantly, the potential therapeutic markers.
Aims
We molecularly identify the biomarkers of multiple myeloma aiming for early detection, risk-assessment, monitoring, and for the development of potential therapeutic markers.
Methods
We combined our routinely genetic testings including the conventional cytogenetic analysis, iFISH for CD138 enriched samples, MLPA analysis, and a pan-screening array CGH to identify genetic alterations in 35 newly diagnosed myeloma patients.
Results
While several recurrent genetic alterations in multiple myeloma such as translocation involving immunoglobulin gene rearrangements, Del(17p), Del(13q), and Amp(1q) were observed in similar frequency as compared to previous publications, the amplification of short arm of chromosome 9 (JAK2) by MLPA analysis was predominantly observed (10/35; 29%) in our tested samples. Consistency results were observed by using array CGH technique. Moreover, our preliminary data in the transcriptional analysis of multiple myeloma patients using expression microarray was able to identify the dysregulation of JAK2 in all multiple myeloma subgroups.
Conclusion
Our findings further highlight the inter-tumour heterogeneity of multiple myeloma between populations and the alteration of JAK2 may play a role as a key driving mutation in multiple myeloma which mainly positive in our tested population.
Session topic: 13. Myeloma and other monoclonal gammopathies – Biology & Translational Research
Keyword(s): Cytogenetic abnormalities, Expression profiling, Multiple Myeloma
Abstract: PB2135
Type: Publication Only
Background
Multiple myeloma is a hematological malignancy characterized by abnormal accumulation of clonal plasma cells in the bone marrow. Beside the complexity and heterogeneity of the disease, we and others attempt to molecularly identify the biomarkers of multiple myeloma aiming for early detection, risk-assessment, monitoring, and importantly, the potential therapeutic markers.
Aims
We molecularly identify the biomarkers of multiple myeloma aiming for early detection, risk-assessment, monitoring, and for the development of potential therapeutic markers.
Methods
We combined our routinely genetic testings including the conventional cytogenetic analysis, iFISH for CD138 enriched samples, MLPA analysis, and a pan-screening array CGH to identify genetic alterations in 35 newly diagnosed myeloma patients.
Results
While several recurrent genetic alterations in multiple myeloma such as translocation involving immunoglobulin gene rearrangements, Del(17p), Del(13q), and Amp(1q) were observed in similar frequency as compared to previous publications, the amplification of short arm of chromosome 9 (JAK2) by MLPA analysis was predominantly observed (10/35; 29%) in our tested samples. Consistency results were observed by using array CGH technique. Moreover, our preliminary data in the transcriptional analysis of multiple myeloma patients using expression microarray was able to identify the dysregulation of JAK2 in all multiple myeloma subgroups.
Conclusion
Our findings further highlight the inter-tumour heterogeneity of multiple myeloma between populations and the alteration of JAK2 may play a role as a key driving mutation in multiple myeloma which mainly positive in our tested population.
Session topic: 13. Myeloma and other monoclonal gammopathies – Biology & Translational Research
Keyword(s): Cytogenetic abnormalities, Expression profiling, Multiple Myeloma