| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 139 |
Submitter(s): Marwan Yared.
Clinical history
The patient was a 56 year-old male who presented with bruising. A complete blood count showed hemoglobin 10.3 g/dl, hematocrit 34.9%, MCV 102 fl, MCHC 29.5 g/dl, RDW 20.0%. The white blood cell count was 45,000/ul with 2% blasts, 21% myelocytes, 4% metamyelocytes, 27% bands, 27% neutrophils, 15% lymphocytes, and 4% monocytes. Nucleated RBC count was 4%. Platelet count was 80,000/ul. There was no lymphadenopathy or hepatosplenomegaly.
Details of gross/microscopic pathology:
The peripheral blood smear showed a leukoerythroblastic picture with increased blasts, atypical granulocytes and monocytes, and giant platelets. The bone marrow aspirate smears and biopsy showed a 100% cellular marrow with complete but left-shifted granulocyte maturation, megaloblastoid erythroid precursors, and atypical megakaryocytes with many micromegakaryocytes, hypolobated megakaryocytes, and megakaryocytes with widely separated nuclei identified. Blasts were not increased (3.5%). Many pseudo-Gaucher cells were identified. A reticulin stain performed on the bone marrow biopsy did not show increased fibrosis.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometric analysis showed no evidence of an abnormal cell population with blasts comprising 0.9% of cells.
Cytogenetics:
Conventional cytogenetics: 46,XY
FISH: negative for the presence of a clone with BCR/ABL rearrangement.
Molecular analysis:
Interesting feature(s) of submitted case:
We consider this to be a gray-zone case of myelodysplastic/myeloproliferative disease showing both myeloproliferative and myelodysplastic features but not fulfilling all the WHO criteria for any one of the myelodysplastic/myeloproliferative disease categories. Patient failed multiple treatment modalities, ultimately developing acute myeloid leukemia and expiring.
Proposed diagnosis:
Myelodysplastic/myeloproliferative disease, unclassifiable.
Panel diagnosis:
Atypical chronic myeloid leukemia
Comments:
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