Feng, Xiaodong_ Xie, Hong-Guang - Applying pharmacogenomics in therapeutics-CRC Press (2016)

1 2 3 4 5
Vysis LSI BCR/ABL + 9q34 tricolor, dual fusion
translocation probe
LSI ABL (9q34), ASS (9q34)
Fusion
LSI BCR (22q11.2)
6 7 8 9 10 11 12
13 14 15 16 17 18
Fusion
19 20 21 22 x y
(a)
Normal
(b)
Abnormal
K562 cells dilution with fibroblasts
M K562 F 10 –1 10 –2 10 –3 10 –4 10 –5 10 –6 K-RT H 2
O
BCR-b1-A <---> ABL-a3-B
BCR-b2-C <---> ABL-a3-D
(c)
β-Actin
(d)
FIGURE 5.1 Genetic testing results for BCR-ABL fusion. (a) Chromosome study at band
level of 450. Arrows, derivative chromosomes 9 and 22 (Philadelphia chromosome). (b) FISH
using Vysis LSI BCR/ABL Dual Color Dual Fusion probes. ABL (spectrum red), BCR (spectrum
green), ASS (blue), yellow arrows indicate fusion. Each of the abnormal cells has two
fusion signals, one for derivative chromosome 9 and the other for derivative chromosome 22.
(c) Crystal structure of the kinase domain of ABL (blue) in complex with second-generation
tyrosine kinase inhibitor nilotinib (red). (d) RT-PCR for BCR-ABL. K562, positive cell line
for BCR-ABL fusion. (Parts [a] and [b] courtesy of Dr. Xinjin Xu, ARUP Laboratories and
Department of Pathology, University of Utah School of Medicine.)