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A 6 6-year-old female previously heal thy presen ts for further evaluation of diffuse bone pai n. left-sided abdomi nal discomfort. and progressive fatigue for the last several mon ths. Examination is sign i ficant for splenomegaly, easily palpable below the left costal margin extending to the m idline. Laboratory evaluation reveals leukocyte count of 1 67.000/,LLL. hemoglobi n 9.2 g/dl. and platelet count of 730.000/JLL. Peripheral blood smear is shown.
Bone marrow biopsy is obtained with evidence of i ncreased marrow cel lu larity and expanded myeloid l i neages as shown below.
What is the expected chromosomal abnormality?
- t(9;21)
- t(14;1 8)
- t(8;14)
- t(9;22)
- t(9;11)
Medicine
D. Philadelphia chromosome (Ph chromosome) resulting from t(9;22) creates a chimeric fusion gene BCR-ABL. The presence and expression of BCR-ABL is the defining feature of CML, as well as the underlying pathophysiologic abnormality of CML. Ph chromosome resulting from t(9;22) is detected in 90% to 95% of cases, and the remaining 5% to 10% are referred to as Ph-negative CML.
These cases of Ph-negative CML have cryptic translocations that cannot be detected by cytogenetics and require FISH or PCR for identification (Cancer Genet Cytogenet. 2007;173(2):97, Br J Haematol. 2004; 125(2):187).
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