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Direct visualization of the transposed ABL gene in a duplicated masked Ph chromosome

✍ Scribed by M. J. Macera; P. Szabo; J. H. Lin; A. T. Desalvo; H. O. Shah; Dr. R. S. Verma

Book ID
102221857
Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
347 KB
Volume
8
Category
Article
ISSN
1045-2257

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✦ Synopsis

In a small percentage of cases of chronic myelogenous leukemia (CML), where the Ph chromosome is masked because of highly complex translocations and sub-microscopic rearrangements, precise identification of chromosomal aberrations by routine banding techniques has been difficult. We report on a new case of CML in which a single copy of a masked Ph chromosome was duplicated during blast crisis, i.e., the karyotype was 47,XY,dir ins(22;9)(q I I ;qM. I qM.2),t( I ;22) (q2 I ;q I I), + der (22)t( I;22)(q21;q I I). The chromosome in situ suppression hybridization (CISS) technique with whole chromosome I and 22 specific painting probes demonstrated that 22q I I -qter had been translocated t o I q2 I, whereas 22q I I was the recipient of I q2 I -qter. Furthermore, a cosmid probe identified the location of the ABL gene on only one chromosome 9 (band q34). The other ABL gene could be detected on both derivative chromosomes 22 at band q I I which was flanked by the translocated part of the long arm of chromosome I, thus providing direct visualization of the ABL insertion in a double masked Ph chromosome. A breakpoint within the 5.8 kb major breakpoint cluster [ M-BCR] region was shown by Southern blotting. Genes Chrorn Cancer 8: 127-130 (1993).

t 3 1993 Wiley-Liss, Inc.

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