| Autor: |
Nacheva, Ellie P., Grace, Colin D., Brazma, Diana, Gancheva, Katya, Howard‐Reeves, Julie, Rai, Lena, Gale, Rosemary E., Linch, David C., Hills, Robert K., Russell, Nigel, Burnett, Alan K., Kottaridis, Panagiotis D. |
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| Zdroj: |
British Journal of Haematology; May2013, Vol. 161 Issue 4, p541-550, 10p, 2 Diagrams, 3 Charts, 3 Graphs |
| Abstrakt: |
The BCR/ ABL1 fusion gene, usually carried by the Philadelphia chromosome ( Ph) resulting from t(9;22)(q34;q11) or variants, is pathognomonic for chronic myeloid leukaemia ( CML). It is also occasionally found in acute lymphoblastic leukaemia ( ALL) mostly in adults and rarely in de novo acute myeloid leukaemia ( AML). Array Comparative Genomic Hybridization ( aCGH) was used to study six Ph(+) AML, three bi-lineage and four Ph(+) ALL searching for specific genomic profiles. Surprisingly, loss of the IKZF1 and/or CDKN2 A genes, the hallmark of Ph(+) ALL, were recurrent findings in Ph(+) AML and accompanied cryptic deletions within the immunoglobulin and T cell receptor genes. The latter two losses have been shown to be part of 'hot spot' genome imbalances associated with BCR/ ABL1 positive pre- B lymphoid phenotype in CML and Ph(+)ALL. We applied Significance Analysis of Microarrays (SAM) to data from the 'hot spot' regions to the Ph(+) AML and a further 40 BCR/ ABL1(+) samples looking for differentiating features. After exclusion of the most dominant markers, SAM identified aberrations unique to de novo Ph(+) AML that involved relevant genes. While the biological and clinical significance of this specific genome signature remains to be uncovered, the unique loss within the immunoglobulin genes provides a simple test to enable the differentiation of clinically similar de novo Ph(+) AML and myeloid blast crisis of CML. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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