AML Breakapart LPH027 - Detail

The AML1 (CBFA2 or RUNX1) gene is the most frequent target of chromosomal rearrangements observed in human acute leukaemia with the most common rearrangements being TEL/AML and AML/ETO fusions. The TEL(ETV6)/AML1 fusion is brought about by the t(12;21)(p13;q22) translocation which is observed in 21% of childhood B-ALL cases¹. The AML/ETO fusion is the result of the t(8;21)(q22;q22) translocation observed in around 40% of AML M2 and 7% of AML cases overall. Both of these rearrangements provide for a favourable outcome although the TEL/AML1 fusion is associated with late relapse. The gene is also, however, rearranged in many other rare translocations including the partner chromosomes - 1, 2, 3, 4, 6, 9, 16, 20 and X. Rearrangements of the RUNX1 gene are not restricted to translocations, however. Using FISH, gene amplifications have also been found, essentially in childhood ALL^2,3 and amplification of the gene has further been shown to be associated with poorer outcome in ALL⁴, one mechanism for which is thought to be due to overexpression of RUNX1 (AML1) ⁵. The Cytocell AML1 breakapart product has been designed to show gross changes in the AML1 gene so that prior knowledge of the partner chromosome(s) involved is not necessary since a rearrangement will be clearly visible in non-dividing cells as well as those at metaphase.

Reference:/Bibliographie/Literatur/Bibliografia

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