| Session: Chronic myelogenous leukemia |
| Case number: 041 |
Submitter(s): Scott D. Dufresne, Rachel L. Sargent, Lydia C. Contis.
Clinical history
A 9 month-old male with a prior history of osteomyelitis presented with fever, poor oral intake and decreased left leg mobility. WBC: 37.0 x 10^9/L, hemoglobin: 8.0 g/dl, platelets: 581 x 10^9/L. Manual differential: neutrophils 65%, bands 13%, lymphocytes 10%, monocytes 1%, basophils 3%, eosinophils 3%, metamyelocytes 3%, myelocytes 2%, 1 nRBC/100 WBC. Bone biopsy of the leg demonstrated necrosis, immature eosinophilia and suggested a primary neoplastic bone marrow process. A bone marrow biopsy was subsequently performed.
Details of gross/microscopic pathology:
Wright stained peripheral blood smear: WBC: 30.5 x 10^9/L;[figure1]manual differential: neutrophils 35%, bands 13%, lymphocytes 20%, monocytes 4%, eosinophils 4%, basophils 6%, myelocytes 10%, metamyelocytes 8%, 1 nRBC/100WBC.[figure2][figure3]Hemoglobin:11.8 g/dl, platelets: 544 x 10^9/L. The aspirate smears (Wright-Giemsa) showed an increased M:E ratio (11.7)[figure4] and included 0.7% blasts, 2.3% promyelocytes, 25.3% myelocytes, 23.3% metamyelocytes, 13.7% bands, 7.7% neutrophils, 3.0% basophils, 5.0% eosinophils (manual 300 cell count differential).[figure5][figure6]The B5-fixed bone marrow core biopsy (H&E) was normocellular for age in intact areas (100% cellular).[figure7]Megakaryocytes were present in increased numbers, included small and monolobate forms, and formed occasional clusters.[figure8]
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry studies performed on the bone marrow showed 1.2% CD34(+) myeloblasts, 2.7% CD117(+) cells, and 1% CD13/33(+) cells that appeared to co-express CD7. Admixed heterogeneous T-cells, polyclonal B-cells, and 5% CD19(+), CD10(+), partially CD5(+) lymphoid cells, compatible with hematogones, were also present.
Cytogenetics:
Bone marrow: 46, XY,t(9;22)(q34;q11.2)[19]/46,XY[1]. Interphase FISH : BCR/ABL gene rearrangement in 198/200 cells analyzed.
Molecular analysis:
Quantitative real-time PCR analyses of the diagnostic bone marrow demonstrated a major BCR-ABL (CML, M-bcr) and minor (ALL, m-bcr) breakpoint rearrangement.
Interesting feature(s) of submitted case:
Although the morphologic, cytogenetic, and molecular features of (Ph+) CML are similar for adult and pediatric populations, the incidence of disease varies greatly. (Ph+) CML constitutes 3-5% of all childhood leukemias and occurs in less than 1/100,000 children. This case was especially unique due to the patient's age and that the initial presentation of this disease was complicated, and to some extent masked, by the patient's concurrent infection. Despite Gleevec therapy and morphologic remission, cytogenetic and molecular studies remained positive for the BCR/ABL gene rearrangement. A mismatched donor umbilical cord blood transplant was performed. He is currently well at 29 months of age but continues to show cytogenetic and molecular evidence of the BCR-ABL gene rearrangement.
Proposed diagnosis:
Chronic myelogenous leukemia, chronic phase.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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