A rare t (9; 12; 22) (q34; q23; q11) translocation in a patient with typical chronic myeloid leukemia: A case report

Raja Z. Azma, Noor Adilah Jaapar, Hafiza Alauddin, Suria Abdul Aziz, Azlin Ithnin, Noor Hamidah Hussin, Chia Wai Kit, Rafeah Tumian, Zubaidah Zakaria, Sharifah Noor Akmal, Salwati Shuib

Abstract


Chronic myeloid leukaemia (CML) is typically associated with reciprocal translocation between long arms of chromosome 9 and 22, t (9, 22) (q34; q11.2) and with the formation of a BCR-ABL fusion gene. In a minority of newly diagnosed CML cases, complex cytogenetic variants of the Ph chromosome can be observed with involvement of chromosomes 9, 22 and a third chromosome. Herein, we describe a lady with CML in chronic phase with a complex translocation involving chromosomes 9, 22 and 12. Conventional karyotyping revealed t (9, 12). Fluorescence in-situ hybridization (FISH) showed BCR-ABL fusion signals in 60% nucleated cells (cut-off levels ≥5% for positive signals). Whole chromosome painting (WCP) showed presence of a complex variant translocation between chromosomes 9, 12 and 22. However, DNA analysis for BCR-ABL fusion gene was negative. Cytoreductive therapy and Imatinib treatment were initiated.

Full Text: PDF DOI: 10.5430/jhm.v2n4p17

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Journal of Hematological Malignancies
ISSN 1925-4024 (Print)   ISSN 1925-4032 (Online)
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