?Masked? Ph1-chromosome in chronic myelogenous leukaemia (CML)

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)(q11;q34.1q34.2),t(1;22) (q21;q11), + der (22)t(1;22)(q21;q11). The chromosome in situ suppression hybridization (CISS) technique with whole chromosome 1 and 22 specific painting probes demonstrated that 22q11-qter had been translocated to 1q21, whereas 22q11 was the recipient of 1q21-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 q11 which was flanked by the translocated part of the long arm of chromosome 1, 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.

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

Macera

Szabo

Lin

et al. 1993

Genes Chromosomes & Cancer

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Masqued philadelphia chromosome involving the short arm of chromosome 10

Aventin

Mecucci

Petrick

et al. 1987

Blut

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Genomic diversity of Philadelphia-positive chronic myelogenous leukemia

Verma¹,

Macera²

1987

Leukemia Research

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?Masked? Ph1-chromosome in chronic myelogenous leukaemia (CML)

Cited by 7 publications

References 26 publications

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

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

Masqued philadelphia chromosome involving the short arm of chromosome 10

Genomic diversity of Philadelphia-positive chronic myelogenous leukemia

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