Unusual Ph translocations in CML: four new cases
ABSTRACT 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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ABSTRACT: In a patient with chronic myelocytic leukemia chromosome analysis showed a translocation (22;22) (q13;q11). Chromosomes 9 were apparently not involved. Using somatic cell hybrids and a v-abl probe, we demonstrated the translocation of c-abl sequences from chromosome 9 to chromosome 22q-. This confirms the hypothesis that the translocation of c-abl oncogene is essential for the development of Ph1 positive CML.Leukemia Research 02/1986; 10(9):1131-7. DOI:10.1016/0145-2126(86)90058-5 · 2.69 Impact Factor
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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.Leukemia Research 02/1987; 11(9):833-42. DOI:10.1016/0145-2126(87)90068-3 · 2.69 Impact Factor
Article: Human chromosome 22[Show abstract] [Hide abstract]
ABSTRACT: The acrocentric chromosome 22, one of the shortest human chromosomes, carries about 52 000 kb of DNA. The short arm is made up essentially of heterochromatin and, as in other acrocentric chromosomes, it contains ribosomal RNA genes. Ten identified genes have been assigned to the long arm, of which four have already been cloned and documented (the cluster of lambda immunoglobulin genes, myoglobin, the proto-oncogene c-sis, bcr). In addition, about 10 anonymous DNA segments have been cloned from chromosome 22 specific DNA libraries. About a dozen diseases, including at least four different malignancies, are related to an inherited or acquired pathology of chromosome 22. They have been characterised at the phenotypic or chromosome level or both. In chronic myelogenous leukaemia, with the Ph1 chromosome, and Burkitt's lymphoma, with the t(8;22) variant translocation, the molecular pathology is being studied at the DNA level, bridging for the first time the gap between cytogenetics and molecular genetics.Journal of Medical Genetics 03/1987; 24(2):65-78. DOI:10.1136/jmg.24.2.65 · 5.64 Impact Factor