| Session: Myelodysplastic syndrome |
| Case number: 124 |
Submitter(s): Gang Yue, Bruce A. Woda, Sa A. Wang.
Clinical history
A 66-year-old male presented with a three-year history of asymptomatic anemia which become symptomatic following his CABG procedure. He underwent a bone marrow (BM) biopsy that demonstrated a 65% hypercellularity with trilineage dysplasia. His BM then showed 29% erythroblasts, a M:E ratio of 3:1 and 2% blasts, He began treatment with Darbepoetin Alfa (Aranesp) 200 mcg daily and received occasional RBC transfusions. His follow-up BM biopsy 12 months later showed a 70% cellularity with 12% erythroblasts and a M:E ratio of 7.5:1. Since then, he required more frequent RBC transfusions and eventually became RBC transfusion dependent. Eighteen months after his MDS diagnosis, he was referred to our medical center for further management.
His CBC: WBC-4.2x109/L, Hb-9.2 g/dl; Platelets-178x 109/L; ANC-3.2x 109/L; MCV: 104.5 fl; reticulocytes-0.9%; monocytes-8.5%; lymphocytes-12%. Erythropoietin-712 mU/mL; vitamin B12 and folate were normal. Ferritin was increased.
At our institute, he has been enrolled in the protocol using Anti-CD52 Antibody (Campath-1H) in Combination with GM-CSF. After 6 months treatment, the patient becomes transfusion independent.
Details of gross/microscopic pathology:
BM biopsy/aspirate were obtained from the iliac crest. the biopsy was fixed in formalin and decalcified with Immunocal™.
The BM biopsy showed a 70% cellularity and a disrupted architecture-Figure1. There was a marked decrease in erythroid precursors-Figure 2-3. Megakaryocytes were dysplastic-figure 2-3. Lymphocytes were not increased-Figure 2-3. The aspirate showed 5% erythroid precursors with a M:E ratio of 15:1. Trilineage dysplasia was appreciated-figure 4-6.
Immunophenotype (flow cytometry/immunohistochemistry):
BM biopsy showed no increase in CD20 + B-cells or CD3+ T-cells. The T-cells showed a mixed CD4 and CD8 T cells. CD57 or CD56 positive cells were not increased
Flow Cytometry
The total lymphocytes were 4.5% of total nucleated cells. The CD4:CD8 ratio was 0.9:1. The CD3+CD8+CD57+ large granular lymphocytes were not increased.
Cytogenetics:
46, XY[20].
Molecular analysis:
TCR gamma rearrangement was performed on BM aspirate by PCR. A monoclonal band was detected at an approximately 1% DNA level-figure 7.
The patient's frozen serum was negative for parvovrius B19 DNA by quantitative real-time PCR with TaqMan technology.
Interesting feature(s) of submitted case:
MDS with pure red cell aplasia (PRCA) is a very rare form of MDS. In our unpublished case series, PRCA could be seen at the time of MDS diagnosis; evolve from an initial relative erythroid hypoplasia; or develop during the course of an otherwise unremarkable MDS. The detection of monoclonal T-cells in a number of cases suggests that immune-mediated dysregulation/destruction or erythropoiesis or erythroid precursors might contribute to PRCA in association with MDS, and that such patients may benefit from immunosuppressant therapy.
Proposed diagnosis:
Refractory Cytopenia with Multilineage Dysplasia associated with pure red cell aplasia.
Panel diagnosis:
agree with proposed diagnosis
Comments:
Images:
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