| Session: Chronic myelogenous leukemia |
| Case number: 157 |
Submitter(s): John L. Frater, Friederike H. Kreisel.
Clinical history
A 58 year old woman presented with a 2 week history of fever, headache, and weight loss. A computerized tomogram of the head revealed a subacute subdural hematoma, and a CBC revealed a white blood count of 205k/mcl (42% blasts), hemoglobin of 6g/dL, and a platelet count of 44k/mcl. A physical examination was significant for splenomegaly. The patient was admitted to the bone marrow transplant service, and a bone marrow biopsy, leukophoresis, and hydroxyurea therapy were performed. After diagnosis, the patient was treated with Gleevec®. By discharge, 8 days after admission, the patient's white blood cell count had decreased to 1.4k/mcl and the subdural hematoma had partially resolved. The patient remained in good health until 9 months after original diagnosis, when she presented with relapsed disease, which was treated with dasatimib. The patient is currently (13 months after original diagnosis) in molecular remission and preparing for bone marrow transplant.
Details of gross/microscopic pathology:
At diagnosis, the peripheral blood demonstrated a marked leukocytosis with an increase in blasts, and eosinophilia. 2 bone marrow specimens were obtained, the first at diagnosis, the second at relapse, the features of which were similar. Blasts were markedly increased and did not contain Auer rods. Maturing granulocytes included an increased population of eosinophils. Occasional megakaryocytes were small with hypolobate nuclei. Enzyme cytochemistries revealed the blasts to the weakly myeloperoxidase positive and alpha naphthyl butyrate esterase negative at diagnosis. The blasts were negative for both enzyme cytochemistries at relapse.
Immunophenotype (flow cytometry/immunohistochemistry):
At diagnosis, flow cytometric analysis of the peripheral blood revealed the blasts to be positive for CD19, CD13, CD33 (partial and weak), CD34, CD117 (weak), and CD56 and negative for CD14 and CD64. At relapse the blasts were positive for CD10, CD19, CD34, cCD79a, TdT, and CD13 (partial) and negative for CD20, CD3, CD14, CD33, CD64, and surface immunoglobulin light chain.
Cytogenetics:
Performed on peripheral blood at relapse: 46, XX, inv(2)(p11.2q13), inv(10)(p11.2q21), t(9;22)(q34;q21)[20].
Molecular analysis:
At diagnosis, the p210 form of BCR-ABL was identified by RT-PCR. 13 months after initial diagnosis RT-PCR was negative for BCR-ABL.
Interesting feature(s) of submitted case:
1) The immunophenotypic plasticity of the blast population; 2) The differential diagnosis, which includes BCR-ABL+ de novo leukemia of ambiguous lineage. Associated eosinophilia and megakaryocyte morphology favor chronic myelogenous leukemia.
Proposed diagnosis:
Acute leukemia best classified as chronic myelogenous leukemia, blast phase.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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