Derivative chromosome 9 deletions are a significant feature of childhood Philadelphia chromosome positive acute lymphoblastic leukaemia.

Autor: Robinson, H. M., Martineau, M., Harris, R. L., Barber, K. E., Jalali, G. R., Moorman, A. V., Strefford, J. C., Broadfield, Z. J., Cheung, K. L., Harrison, C. J.
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Zdroj: Leukemia (08876924); Apr2005, Vol. 19 Issue 4, p564-571, 8p
Abstrakt: Deletions from the derivative chromosome 9, der(9), of the translocation, t(9;22)(q34;q11), at the site of the ABL/BCR fusion gene, have been demonstrated by fluorescence in situ hybridisation (FISH), in both Philadelphia chromosome (Ph)-positive chronic myeloid leukaemia (CML) and acute lymphoblastic leukaemia (ALL). In CML they occur in 10-15%of cases and appear to indicate a worse prognosis, whereas in ALL, the situation is unclear. This study presents the findings of dual fusion FISH used to detect such deletions in a series of 27 BCR/ABL-positive childhood ALL patients. Metaphase FISH was essential for the accurate interpretation of interphase FISH signal patterns. Three cases (11%) had a single fusion signal, resulting from deletions of the der(9). Three other patients with variant translocations and one with an insertion, also had a single fusion, but with no evidence of deletions. Gain of a fusion in approximately one-third of patients indicated a second Ph, which appears to be a diagnostic marker of Ph-positive ALL. This study shows that the incidence of deletions from the der(9) in childhood ALL is at least as high as that reported for CML.Leukemia (2005) 19, 564-571. doi:10.1038/sj.leu.2403629 Published online 17 February 2005 [ABSTRACT FROM AUTHOR]
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