||C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
||9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
|| A. Conventional karyotype: partial R and G-banded karyotype. The derivative chromosomes of translocations t(9;14)(q33;q32) and t(9;22)(q34;q11) are denoted by solid and dotted arrows, respectively.|
B. FISH: representative metaphase hybridized with dual color break-apart IGH probe (Abbott, Rungis, France). A fusion signal is seen on normal chromosome 14 (large arrows), a red signal on derivative chromosome 14 (small solid arrows) and a green signal on derivative chromosome 9 (small dotted arrows).
C. FISH: representative metaphase hybridized with a BCR/ABL ES probe (Abbott). A green signal is seen on a normal chromosome 22 (large arrows), and two fusion signals on derivative chromosomes 9 and 22 (small dotted arrows), confirming the BCR-ABL1 rearrangement with a breakpoint in the mBCR region. A red signal is observed on derivative chromosome 14 (small solid arrows), indicating that the breakpoint of t(9;14) was centromeric to the ABL1 gene in chromosome 9.
|| Chronic myeloid leukemia (CML) in B-cell lymphoid blast crisis|
|Phenotype / cell stem origin
|| B cell phenotype (CD19, CD10) with 2 aberrant myeloid markers (CD13 and CD33).|
|Epidemiology|| Only one case to date, a 10-year-old male patient (Nadal et al., 2012).|
|Clinics|| Lymphadenopathies, enlarged spleen and liver. Central nervous system involvement.|
|Cytology|| High WBC with blast cells (44%), myelemia, eosinophilia and basophilia. Bone marrow aspiration showed 60% of undifferentiated blast cells with persistence of the granulocytic lineage.|
|Treatment|| The patient was treated according to the European protocol ESPHALL (imatinib, asparaginase, vincristine, vindesine, daunorubicin, aracytine, VP16, ifosfamide, and methotrexate, followed by an allograft).|
|Evolution|| After induction, minimal residual disease (MRD) detection by CMF and by molecular analysis was negative, whereas RT-PCR for BCR-ABL1 transcript was still positive. Chromosomal examination showed the presence of one metaphase out of 30 with only the t(9;22)(q34;q11), suggesting that the t(9;14) translocation was a secondary chromosomal abnormality.|
Thus, the chemotherapy had eradicated the lymphoblast cells but a CML clone persisted, further supporting the diagnosis of CML in BC.
By 7 months after diagnosis, the patient underwent allogenic stem cell transplantation from his HLA-matched sister. At 2 years post-transplantation, the patient was alive and well. BCR-ABL1 transcript was undetectable (<0.001%).
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