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| Status |
Public on Oct 29, 2019 |
| Title |
Transcriptome analysis reveals significant differences between primary plasma cell leukemia and multiple myeloma even when sharing a similar genetic background |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Primary plasma cell leukemia (pPCL) is a highly aggressive plasma cell dyscrasia characterized by short remissions and very poor survival. Deletions of 17p13 are much more frequent in pPCL than in multiple myeloma (MM). Although the 17p deletion is associated with poor outcome and extramedullary disease in MM, its presence does not confer the degree of aggressiveness observed in pPCL. The comprehensive exploration of the transcriptome, including isoform expression and RNA splicing events, may provide novel information about biological differences between the two diseases carrying a 17p deletion. Transcriptomic studies were carried out with the Human Transcriptome Array in nine newly diagnosed pPCL and ten MM samples, all of which harbored the 17p deletion. Unsupervised cluster analysis clearly distinguished pPCL from MM samples. Indeed, 3,584 genes and 20,033 isoforms were found to be deregulated between pPCL and MM, most of which were underexpressed in pPCL. Pathway enrichment analysis at the gene and isoform levels revealed seven overlapping pathways mainly related to mRNA processing. There were 2,727 significantly deregulated isoforms of non-differentially expressed genes. Strangely enough, significant differences were observed in the expression of spliceosomal machinery components between pPCL and MM, in respect of the gene and isoform expression, and of the alternative splicing events. Furthermore, most of the deregulated exons have binding sites for most serine/arginine-rich proteins. In summary, transcriptome analysis revealed significant differences in the relative abundance of isoforms between pPCL and MM, even when they both had the 17p deletion. Importantly, the mRNA processing pathway including RNA splicing machinery emerged as one of the most remarkable mechanisms underlying the biological differences between the two entities.
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| Overall design |
Nine patients with newly diagnosed pPCL and ten with newly diagnosed MM were selected for the study based on the presence of 17p deletion.
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| Contributor(s) |
Rojas EA, Corchete LA, Mateos MV, García Sanz R, Misiewicz-Krzeminska I, Gutiérrez NC |
| Citation(s) |
31748515 |
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| Submission date |
May 14, 2019 |
| Last update date |
Dec 10, 2019 |
| Contact name |
Norma C. Gutiérrez |
| E-mail(s) |
[email protected]
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| Phone |
+34923291384
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| Organization name |
Centro de Investigación del Cáncer de Salamanca
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| Department |
Hematologia
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| Lab |
12
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| Street address |
Campus Miguel de Unamuno
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| City |
Salamanca |
| State/province |
Salamanca |
| ZIP/Postal code |
37007 |
| Country |
Spain |
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| Platforms (1) |
| GPL20932 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 (CDF: hta20hsensgcdf_19.0.0.cdf, version 19) |
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| Samples (19)
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| Relations |
| BioProject |
PRJNA542924 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE131216_RAW.tar |
586.5 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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