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case_images: Cellular morphology of bone marrow and CSF, FISH, karyotype, and immunophenotype. (A) Initial bone marrow smear (Wright-Giemsa x1000) revealed markedly hypercellular marrow along with 3% blast; (B) FISH revealed signal for BCR::ABL1 fusion with pattern of 1 yellow (fusion signal), 1 red, and 2 green; (C) Cytogenetic analysis of bone marrow showed a karyotype 46, XX, t (9;22) (q34; q11); (D-F) The bone marrow smear, FISH, and karyotype examination from bone marrow samples yielded normal results, when CNSL occurred. (G) When CNS infiltrated, CSF cytology showed blast characterized by rounded mononuclear immature cells with hyperchromatic nuclei (Wright-Giemsa x1000). (H) Metaphase FISH image of blasts in CSF revealed signal for BCR::ABL1 fusion with pattern of 1 yellow (fusion signal), 1 red, and 2 green; (I) The immunophenotyping results of CSF sample demonstrated the presence of abnormal cells expressing CD 45 and CD117.. Abbreviations: CNSL: central nervous system leukemia; CSF: Cerebro-Spinal Fluid.
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case_images: Eventually, the patient was diagnosed with chronic phase - CML (CP-CML) with e1a3 BCR::ABL1 transcript, as confirmed by morphology, FISH and cytogenetic analyses (Figure 1A-C). CSF also demonstrated BCR::ABL1 translocations in approximately 70% of nucleated cells (Figure 1G-I). Concurrently, a PCR quantitative analysis of e1a3 was performed and found that 3.18% of expression in the bone marrow (Table 1). Notably, all these assessments from bone marrow returned negative results (Figure 1D-F).
case_images: MRI examination of the patient's head. When CNSL occurred, T2 FLAIR images showed patchy high signal areas in the medulla and cerebellar peduncles. After treatment, the size of the lesion significantly reduced.
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case_images: A brain magnetic resonance imaging (MRI) scan revealed abnormal signals in the medulla oblongata and bilateral pontine arms (Figure 2).