A 3-way Rare Variant Ph Translocation t(7;9;22) in a patient with Chronic Myeloid Leukemia

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Acta Medica International,2015,2,2,186-188.
Published:July 2015
Type:Case Report

A 3-way Rare Variant Ph Translocation t(7;9;22) in a patient with Chronic Myeloid Leukemia

Saira Shan1, Muhammad Nadeem2, Tabbassum Ara3, Tahir Shamsi4
 

1Department of Cytogenetics, National Institute of Blood Disease & Bone Marrow Transplantation, Karachi. Pakistan,

2Head of Pathology, Molecular Biology and Cytogenetics, National Institute of Blood Disease & BMT, Karachi, Pakistan,

3Medical Lab Technologist, National Institute of Blood Disease & BMT, Karachi, Pakistan,

4Department of Haematologist & Transplant Physician, National Institute of Blood Disease & BMT, Karach, Pakistan

Abstract:

Chronic Myeloid Leukemia (CML) is associated with translocation between chromosome 9 & chromosome 22, t(9;22)(q34;q11.2) and with the formation of BCR-ABL fusion gene. In few newly diagnosed CML cases, complex cytogenetics variants of the Philadelphia (Ph) chromosome can be observed with the involvement of a third chromosome other than chromosome 9 & chromosome 22. Here in, we describe a 45 yrs old male, diagnosed as CML in Chronic phase with a complex translocation involving chromosomes 7, 9 & 22. Cytogenetics investigations for confirmation of CML revealed 46,XY, t(7;9;22)(q11.2;q34;q11.2) in 100% metaphases counted. Fluorescence in-situ hybridization (FISH) showed BCR-ABL fusion signals pattern in 100% nucleated cells analyzed. A review of the literature revealed that CML patients with this translocation tend to have an aggressive course and poor outcome. Additional 3-way chromosome translocations associated with CML are also reviewed.

A photographic image of Fluorescence In-situ Hybridization showing BCR/ABL dual fusion signal pattern