A case of CML-like Disease with t(8;22)(q24;q11)

Chronic myelogenous leukemia (CML) is characterized in 85-90% of cases by the presence of the Philadelphia (Ph) chromosome and BCR-ABL fusion gene.1 A further 5-10% of cases have other translocations, most commonly complex variants that involve one or more chromosomal regions in addition to bands 9q34 and 22q11, but also simple variants that typically involve 22q11 and a chromosome other than 9. There are a few reports regarding observation of t(8;22) in patients with CMLlike disease.2-6 We report a case of CML-like disease with t(8;22) who achieved hematological remission with hydroxyurea and Imatinib. A 27-year-old Iranian male presented with fatigue and malaise. Physical examination revealed bilateral axillary lymphadenopathy and huge splenomegaly. Peripheral blood smear showed hyperleukocytosis with shift to the left, basophilia, and eosinophilia. Bone marrow aspiration and biopsy was in accordance with CML in chronic phase. Cytogenetic study revealed t(8; 22)(q24; q11) in all 20 metaphases analyzed. The BCR-ABL fusion was positive which was proved to be falsely positive due to BCR gene disruption.