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Year : 2005  |  Volume : 1  |  Issue : 2  |  Page : 108-110

A three way complex translocation (4;9;22) in two patients with chronic myelocytic leukemia

1 FRIGE (Foundation for Research in Genetics and Endocrinology) Genetic Centre, 20/1, Bima Nagar, Satellite, Ahmedabad-380 015, India
2 Laboratorie de Cytogenetique Institut Jules Bordet Cancer Center of the free University of Brussels (ULB) 1000 Brussels, Belgium

Correspondence Address:
Frenny J Sheth
FRIGE (Foundation for Research in Genetics and Endocrinology) Genetic Centre, 20/1, Bima Nagar, Satellite, Ahmedabad-380 015
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-1482.16711

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Chronic myeloid leukemia (CML) is genetically characterized by the reciprocal translocation of chromosome 9 and 22, t(9;22)(q34;q11) which results in the fusion of BCR/ABL gene observed on the derivative chromosome 22 called Philadelphia (Ph') chromosome. About 5-8% of Philadelphia positive patients with CML show various complex translocations involving third chromosome in addition to chromosome 9 and 22. In present report we discuss two cases with CML referred at our centre. At the time of initial diagnosis and after 9 months of treatment, one of the patients showed 100% presence of Philadelphia positive in bone marrow culture. During follow-up in an accelerated state, his cytogenetic study revealed a complex translocation (4;9;22)(q25;q34;q11) along with an additional Philadelphia and marker chromosome. The second patient showed a complex (4;9;22)(q25;q34;q11) translocation at the time of diagnosis. He was on hydroxyurea and his follow-up cytogenetic study after the course of chemotherapy showed no changes. Further confirmation of complex translocation was done by FISH study using bcr/abl and whole chromosome 9 probes. Though the additional genes involved in complex variant Ph' rearrangements have not been characterized, both patients are healthy till 3 to 5 years of initial diagnosis. This could be attributed to the benign effect resulted from reciprocal translocation with no loss or gain of the genetic material.

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