Ks. Reddy et al., A child with ALL and ETV6/AMLI fusion on a chromosome 12 due to an insertion of AMLI and loss of ETV6 from the homolog involved in a t(12;15)(p13;q15), GENE CHROM, 29(2), 2000, pp. 106-109
A 4-year-old boy was found to have acute lymphoblastic leukemia characteriz
ed by a t(12;15)(p13;q15). FISH investigation using a TEL(ETV6)/AML1 probe
detected a fusion signal in 98% of the interphase cells. Sequential FISH on
a G-banded slide showed a fusion signal on an apparently normal chromosome
12 and AML1 signals on chromosomes 21. The EN6 was deleted from the chromo
some 12 involved in the t(12;15). These results are best explained as an in
sertion of AML1 into TEL on one chromosome arm 12p and loss of ETV6 from th
e chromosome 12 involved in the t(12; 15). (C) 2000 Wiley-Liss, Inc.