This patient almost certainly has CML, a condition defined by the presence of Ph chromosome (t[9;22] resulting in BCR-ABL gene fusion). The presence of weight loss, painful splenomegaly, and most importantly anemia and thrombocytopenia suggest that this patients CML may have entered the accelerated phase, which is characterized by increasing numbers of blasts in the blood and/or bone marrow as well as the acquisition of additional clonal cytogenetic abnormalities beyond the Ph chromosome. FISH or PCR performed on either peripheral blood or bone marrow samples are probe-based tests that look specifically for the BCR-ABL fusion but will not detect other cytogenetic abnormalities. Standard cytogenetics are sufficiently sensitive for detection of Ph chromosome and will also identify other clonal aberrations. A bone marrow sample allows simultaneous assessment of cytogenetics and the percentage of bone marrow blasts; thus, it is more informative in this case than peripheral blood cytogenetics testing. Although a low peripheral blood neutrophil alkaline phosphatase score
distinguishes CML from other myeloproliferative conditions, it is not sufficient to confirm the diagnosis.
- Bone marrow biopsy and aspirate with cytogenetics.
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