Indian Journal of Human Genetics
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CASE REPORT
Year : 2011  |  Volume : 17  |  Issue : 2  |  Page : 100-103

Deletion of ABL/BCR on der(9) associated with severe basophilia


Department of Cytogenetics, National Institute of Immunohaematology (ICMR), K.E.M. Hospital Campus, Parel, Mumbai, India

Correspondence Address:
Babu Rao Vundinti
Department of Cytogenetics, National Institute of Immunohaematology (ICMR), 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai - 400 012
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.86198

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Chronic basophilic leukemia is a rare form in chronic myeloid leukemia patients. Only limited number of reports are available. Herein, we describe a patient who presented with fatigue, weight loss, leucocytosis, prominent basophilia, and mild eosinophilia. On biopsy, bone marrow was hypercellular with marked basophils. The immunophenotype showed abnormal expression of CD7, which is suggestive of basophilic maturation. Chromosomal analysis from GTG-banded metaphases revealed Ph positivity, and fluorescence in situ hybridization (FISH) with BCR/ABL dual color, dual fusion probe showed single fusion on the der(22) chromosome and ABL/BCR fusion was deleted on the der(9) chromosome. The deletion (ABL/BCR) on der(9) may be associated with basophilia which may be also indicative of the transformation of CML to acute myeloid leukemia.


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