| Session: Myelodysplastic / myeloproliferative disease |
| Case number: 031 |
Submitter(s): Xianfeng F. Zhao.
Clinical history
This is a 67-year-old Caucasian gentleman who was in his usual state of health until the summer of 2005 when he started experiencing easy fatigability. His CBC was: WBC 16,000/uL, hematocrit 36.9%, and platelet 124,000/uL. On peripheral blood smear he was noted to have 2% blasts, 7% metamyelocytes, 8% myelocytes, 15% band granulocytes, 41% segmented granulocytes, 20% lymphocytes, 5% monocytes, 1% eosinophils, and 1% basophils. Nucleated and tear drop RBCs are identified. Due to the progressive thrombocytopenia and circulating blasts, he was referred to the University of Maryland Medical Center for evaluation. The patient has no significant past medical history.
A recent CBC on 01/29/07 was: WBC 20,200/uL, Hgb 8.7 g/dL, hematocrit 27.3%, and platelet 41,000/uL. The patient is currently RBC transfusion-dependent and on Vidaza for his progressive anemia and thrombocytopenia. He is being considered for allogeneic stem cell transplant since he has two HLA-matched siblings.
Physical examination reveals only mild hepatosplenomegaly, but no lymphadenopathy.
Details of gross/microscopic pathology:
The H&E sections show a markedly hypercellular marrow (90%) with myeloid hyperplasia and focally increased blasts comprising approximately 5% of the marrow cellularity. The myeloid to erythroid ratio is estimated at 5:1. Myeloids are increased with maturation and focally increased blasts. Erythroids are decreased with maturation. Megakaryocytes are focally increased with frequent hypolobated forms. Reticulin stain reveals mild to moderate reticulin fibrosis. Stainable iron is not increased.
The Wright-Giemsa stained aspirate smear shows a a hypercellular marrow with myeloid hyperplasia. Erythroids are decreased with no remarkable dysplastic changes. Megakaryocytes show frequent hypolobated forms. A differential count performed on 500 cells: 3% blasts, 15% promyelocytes, 30% myelocytes, 2% metamyelocytes, 7% band granulocytes, 18% segmented granulocytes, 7% eosinophils, 18% nucleated RBCs.
Immunophenotype (flow cytometry/immunohistochemistry):
Flow cytometry reveals a population (5.8% of the total events) of moderate CD45+ cells that are CD13+, CD33+, CD11c+, partial CD34+, CD38+, CD117+, and HLA-DR+. These cells are negative for CD2, CD3, CD4, CD5, CD8, CD10, CD14, CD19, CD20, CD56, CD64, kappa or lambda.
Cytogenetics:
Negative for BCR/ABL rearrangement or other genetic abnormalities by both conventional cytogenetics and FISH.
Molecular analysis:
Negative for BCR/ABL translocation by PCR.
Negative for FLT-3 mutation.
Negative for JAK2 V617F mutation.
By PCR, polyclonal VDJ rearrangement; monoclonal TCR[gamma] rearrangement.
Interesting feature(s) of submitted case:
This case is interesting for its progressively increasing granulopoiesis, and decreasing erythropoiesis and megakaryopoiesis. Therefore, it falls into the gray-zone of myelodysplastic/myeloproliferative diseases. The negative BCR/ABL rearrangement and JAK2 V617F substitution make it difficult to be classified.
Proposed diagnosis:
Myelodysplastic/myeloproliferative disease, unclassifiable.
Panel diagnosis:
agree with proposed diagnosis
Comments:
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