PMC9095402_01
(a) Peripheral blood smear demonstrating a leukocytosis with myeloid left shift, basophilia, eosinophilia, polycythemia, and thrombocytopenia; Wright-Giemsa, original image x1,000, oil immersion. (b) High-power image of the bone marrow biopsy highlighting the dramatic myeloid predominance with only few, rare erythroid precursors and small, hypolobated megakaryocytes; hematoxylin-eosin, original image x500, oil immersion.
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Review of his peripheral blood smear showed significant dysgranulopoiesis with a leukoerythroblastic differential felt to be most consistent with aCML (Figure 1(a)). The bone marrow core biopsy showed marked hypercellularity of 100%, notable granulocytic dysplasia, and myeloid hyperplasia with a markedly elevated myeloid: erythroid ratio of 30 : 1 (Figure 1(b)).
(a) Karyotype images showing t(2;13). (b) FISH image demonstrating the probes for chromosome 13 hybridizing to the normal chromosome 13 (small chromosome) and chromosome 2 (large chromosome), demonstrating the translocation of chromosome 13 material to chromosome 2.
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FISH but revealed a balanced reciprocal translocation between chromosomes 2 and 13 t(2;13)(q33;q12) in all 19 cells analyzed by karyotype (Figure 2(a)). FISH analysis for translocations involving PDGFRA and PDGFRB was negative as was a quantitative PCR for p210 BCR-ABL1. FISH using the CytoCell 13q14.3/13q34 break-apart probe for 13q showed no evidence of disruption but did demonstrate that this probe had been translocated to chromosome 2 (Figure 2(b)).
(a) WBC count. (b) Hemoglobin. (c) Platelets. (d) LDH for the patient over time from date of presentation to current. The thick dashed line represents the time of imatinib administration while the thin dashed line represents the time of therapy conversion to sorafenib.
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Somewhat unexpectedly, the patient continued to clinically respond to imatinib for approximately three years with normalization of white blood cell count and decrease of LDH (Figure 3), regression of splenomegaly, and overall increased quality of life. He ultimately normalized his WBC count and differential, hemoglobin, and LDH with a resolution of splenomegaly on exam, normalization of his hand exam, resolution of bone pain, and improvement in his platelet count to mild stable thrombocytopenia of approximately 100 K/muL (Figure 3).
(a) Plain film X-ray of the right hand reveals diffuse severe lucency of the entire hamate bone (blue arrows) with a thin peripheral cortex visible. (b) T1 MRI. (c) T2-weighted MRI with contrast of the right hand reveals severe bone marrow replacement throughout the distal radius and ulna, carpal bones, and metacarpals with complete replacement of the trapezoid, capitate, and hamate.
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A plain film of the hand revealed diffuse severe lucency of the entire hamate bone with a thin peripheral cortex visible, and a subsequent MRI revealed severe bone marrow replacement throughout the distal radius and ulna, carpal bones, and metacarpals with complete abnormal marrow replacement of the trapezoid, capitate, and hamate (Figure 4).