We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Does BCR/ ABL1 positive Acute Myeloid Leukaemia Exist?
- Authors
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.
- Abstract
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.
- Subjects
ACUTE myeloid leukemia; GENE fusion; CHROMOSOMES; IMMUNOGLOBULINS; T cells; COMPARATIVE genomic hybridization
- Publication
British Journal of Haematology, 2013, Vol 161, Issue 4, p541
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.12301