| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 015 |
Submitter(s): Cherie H. Dunphy.
Clinical history
A 72 year male with a history of chronic anemia presents with splenomegaly and leukocytosis. He had been receiving iron replacemnt thrapy only. There is no additional pertinent medical history, no previous malignancies or chemotherapy, and no current medications.
Current CBC and differential results:
WBC is 95,000/ul with an absolute neutrophil count of 88,300; absolute lymphocyte count of 2,900; absolute monocyte count of 1,900; absolute eosinophil count of 1,000; and absolute basophil count of 1,000. Hemoglobin is 8.6 g/dl with an MCV of 84 FL and the platelet count is 91,000.
Details of gross/microscopic pathology:
The peripheral blood smear reveals a leukoerythroblastosis with marked leukocytosis, marked neutrophilia, a moderate left shift with myelocytes and promyelocytes and 2% blasts, and granulocytic dysplasia (hypogranulosis).
The bone marrow aspirate smear reveals markedly hypercellular marrow particles with 6% blasts, 7% promyelocytes, 52% maturing granulocytes, 2% erythroid precursors, 1% lymphocytes, and 2% monocytes. The megakaryocytes are decreased and there is markedly increased and left-shifted granulopoiesis with dysgranulopoiesis.
Storge iron is markedly decreased; erythroid iron is increased with no definite ringed sideroblasts identified.
The BM biopsy (fixed in 10% NBF and gently decalcified in 5% acetic acid) is 85% cellular and confirmatory.
Immunophenotype (flow cytometry/immunohistochemistry):
Not performed.
Cytogenetics:
Cytogenetic studies of peripheral blood reveal between 5 and 20 double minutes in 10 cells analyzed.
FISH studies of peripheral blood reveal no evidence of a t(9;22), but FISH studies using the C-MYC probe reveal numerous copies of this gene (between 5 and 20), located on double minute chromosomes, in 92% of interphase cells analyzed.
Molecular analysis:
No BCR-ABL p210 transcripts were detected to a sensitivity of 1 in 100,000 blood cells.
Interesting feature(s) of submitted case:
Presence of double minutes by routine and FISH cytogenetic studies.
Proposed diagnosis:
Myelodysplastic/myeloproliferative disease: Atypical chronic myeloid leukemia.
Panel diagnosis:
Chronic myeloproliferative disease, unclassifiable
Comments:
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