Unusual Ph translocation in CML. Four new cases

Istituto Scientifico di Medicina Interna, Cattedra di Terapia Medica, Università di Genova, Genova, Italy.
Cancer Genetics and Cytogenetics (Impact Factor: 1.93). 03/1985; 15(3-4):199-207. DOI: 10.1016/0165-4608(85)90163-3
Source: PubMed


Four variants of the Ph chromosome translocation in chronic myelogenous leukemia (CML) patients are described. Two had an unusual simple translocation involving chromosomes #7 and #17. In two cases, the translocation, aside from involving #9 and #22, involved a third chromosome, chromosome #6 and chromosome #11, respectively. Three cases showed also karyotypic evolution during the blastic phase of the disease: in two cases, a new reciprocal translocation was found that involved a chromosome #9 at band q34. The clinical and cytogenetic significance of these results is briefly discussed.

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    • "Gahrton et al. noted in 1977 that a patient was alive 10 months after diagnosis on busulfan therapy.8 In 1985, Sessarego et al.6 described four cases of variant Philadelphia chromosome translocations in CML. Cytogenetic analysis of one case revealed a complex three-way translocation t(9;11;22)(q34;q13;q11). "
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    ABSTRACT: The incidence of breakpoints in CML patients with variant translocations was investigated. There was no relationship between the length of various chromosomes with breakpoint frequency. However, a significantly higher (p less than 0.05) incidence of breaks were seen on the long arms as compared to the short arms due mainly to the involvement of 9q and 22q in these translocations. Chromosome 17 showed a significantly (p less than 0.005) higher involvement in these translocations, however only when 9q34-qter was not cytogenetically involved. A total of 683 breaks were found in 225 cases. 362 of these were located at c-abl and c-sis, while 110 were at other oncogenetic sites. The prognostic and hematologic features of patients with variant translocations are not significantly different from those of CML cases with the typical 9q;22q translocation. Some of these complex translocation, where the breakpoints are correlated with oncogenetic sites, are further discussed in molecular terms.
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