A rare case of a three way complex variant positive Philadelphia translocation involving chromosome (9;11;22)(q34;p15;q11) in chronic myeloid leukemia: A case report.
The t(9;22)(q34;q11) translocation is present in 90-95% of patients with chronic myeloid leukemia (CML). Variant complex translocations have been observed in 5-8% of CML patients, in which a third chromosome other than (9;22) is involved. Imatinib mesylate is the first line breakpoint cluster region-Abelson gene (BCR/ABL)-targeted oral therapy for CML, and may produce a complete response in 70-80% of CML patients in the chronic phase. In the present study, a bone marrow sample was used for conventional cytogenetic analysis, and the fluorescencein situhybridization (FISH) test was used for BCR/ABL gene detection. A hematological analysis was also performed to determine the white blood cell (WBC) count, red blood cell count, hemoglobin levels, packed and mean cell volumes, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration and platelet values of the patient. The hematological analysis of the patient indicated the increased WBC of 186.5×103cells/µl, and decreased hemoglobin levels of 11.1 g/dl. The FISH test revealed that 67% cells demonstrated BCR/ABL gene translocation. The patient was treated with 400 mg imatinib mesylate daily, and was monitored at various intervals over a 6-month period. The present study reports the rare case of a patient that demonstrates a three-way Philadelphia chromosome-positive translocation involving 46XY,t(9;11;22)(q34;p15;q11)[10], alongside CML in the chronic phase. The translocation was analyzed using cytogenetic and FISH tests.
Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Balochistan 87300, Pakistan; Office of Research Innovation and Commercialization, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Balochistan 87300, Pakistan.
Muhammad
M
Asif
Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences, Quetta, Balochistan 87300, Pakistan.
Abrar
A
Hussain
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Makkah 21589, Saudi Arabia.
Mahmood
M
Rasool
breakpoint cluster region-Abelson gene; chronic myeloid leukemia; variant complex translocation