case_images: PMC4706395_01
case_images: Pathologic and cytogenetic findings in the peripheral blood and bone marrow biopsies. (A) The peripheral blood smear shows a leukocytosis with neutrophils at various stages of maturation, a basophilia (<20%), and 3% blasts; (B) The marrow is hypercellular with diffuse granulocytic proliferation and numerous "dwarf" megakaryocytes; (C) BCR-ABL1 FISH showed a variant fusion pattern (3 fusions; 1 orange; 1 green); (D) Chromosome analysis revealed an abnormal male karyotype with an isodicentric Philadelphia chromosome; (E) Metaphase FISH studies show the presence of two BCR/ABL1 fusion signals on the idic(Ph) chromosome.
case_images: CCR3-4-043-g001.jpg
case_images: PMC4706395_01_CCR3-4-043-g001.jpg
case_images: ccr3444-fig-0001
case_images: At our institution, the admission white blood cell count (WBC) was 116.4 x 109/L with a differential consisting of 70% neutrophils, 3% metamyelocytes, 6% myelocytes, 2% promyelocytes, 7% lymphocytes, 5% eosinophils, 4% basophils, and 3% blasts (Fig. 1A). A bone marrow biopsy showed findings consistent with CML including marked marrow hypercellularity with left-shifted granulocytic preponderance, numerous "dwarf" megakaryocytes, and 3% blasts (Fig. 1B). A variant BCR/ABL1 fusion pattern (3 fusions; 1 orange; 1 green) was observed in 62.5% of nuclei (Fig. 1C) and 2.5% of nuclei showed 4 fusions; 1 orange; and 1 green pattern. Karyotyping studies revealed the presence of an isodicentric Philadelphia chromosome, 46,XY,der(9)t(9;22)(q34;q11.2),-22,+ider(22)(q10)t(9;22)(q34;q11.2), in all 20 analyzed metaphases (Fig. 1D). BCR/ABL1 probes showed the localization of two fusion signals on the isodicentric Philadelphia chromosome and another fusion signal on the derivative chromosome 9 (Fig. 1E). BCR-ABL1 fusion transcripts were at the level of 100% on the International Scale (IS).