MEDizzy - A patient presented with weakness and heaviness left side of

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Chronic Myeloid Leukemia

A patient presented with weakness and heaviness left side of abdomen for 2 months. Examination revealed splenomegaly of 15 cms below left costal margin. Hemogram revealed hemoglobin 8.5 g%, total leukocyte count of 350,000/µl with left shift and blasts and basophils 4% each, LAP score was low but cytogenetic analysis revealed normal chromosome pattern. The patient:

ExplanationB. The majority of CML patients (95 %) demonstrate the t(9;22)(q32;q11.2) reciprocal translocation that results in the classic Ph chromosome. Minority of patients can have variant translocations such as complex translocations involving other chromosome (e.g. t(9;14;22)). The rest of the patients can have cryptic translocations of 9q34 and 22q11.2 that cannot be detected by routine cytogenetics. These are referred to as “Ph negative” cases and require FISH analysis to identify the BCR-ABL1 fusion gene, or RT-PCR to identify the BCR-ABL1 fusion mRNA. So, this patient needs FISH or RT-PCR to confirm the diagnosis.