| Session: Myelodysplastic syndrome |
| Case number: 131 |
Submitter(s): Olga Pozdnyakova, Bruce A. Woda, Sa A. Wang.
Clinical history
A 75-year old man presented with a 2-years history of progressive anemia and thrombocytopenia who was referred to our medical center for management. His past medical history included prostate carcinoma s/p radiation and hormonal therapy.
CBC: WBC 5.6 x 109/L; HGB 9.2 g/dL; HCT 26.4%; MCV 112.6 fl; RDW 17.7 fl; platelets 18 x 103/mm3; ANC 4.4 x103/mm3; absolute lymphocyte count 0.8 x 103/mm3; absolute monocyte count 0.3 x 103/mm3; reticulocyte count 2.8%. Peripheral film smear: 1% nucleated RBC.
The patient was treated with azacitidine (Vidaza®) for three months without any improvement. He continued to be pancytopenic and became transfusion dependent. Vidaza was discontinued and the patient has been managed by RBC and platelet transfusions.
Details of gross/microscopic pathology:
BM biopsy and aspirate were obtained from the iliac crest. Bone marrow biopsy was fixed in formalin and decalcified with Immunocalâ„¢.
BM biopsy showed a 30% cellularity of with marked decrease in megakaryocytes and showing erythroid predominance-Figure 1-2. The aspirate smears revealed megakaryocytic and eryhtroid dysplasia, without significant myeloid dysplasia. The bone marrow differential:: myeloid:erythroid ratio 1.7:1; normoblasts 33%, blasts 1%; promyelocytes - 2%; myelocytes, metamyelocytes, neutrophils 47%; eosinophils 4%; lymphocytes 9%; plasma cells 1%; monocytes 4%.
Immunophenotype (flow cytometry/immunohistochemistry):
The BM aspirate was sent for flow cytometry study: the myeloid cells showed hypogranulation, an abnormal CD33/CD15 pattern, upregulation of HLA-DR, and abnormal expression of CD56. Monocytes showed downregulation of CD33, CD13 and abnormal expression of CD56. The result was consistent with a myelodysplastic syndrome immunophenotypically.
The peripheral blood sample was analyzed by flow cytometry for PNH cells: Analysis of peripheral blood revealed that 1% of CD15-positive granulocytes do not express CD55, CD59, CD16, and CD66b, which was consistent with the presence of a PNH clone-Figure 5-6.
Cytogenetics:
46, XY (20).
Molecular analysis:
Not applicable.
Interesting feature(s) of submitted case:
It has been reported that up to 20% of patients with a low grade MDS may have a minor population of peripheral blood cells deficient in GPI-anchored membrane proteins. MDS patients with a PNH clone often have less pronounced morphologic abnormalities, more severe thrombocytopenia, lower rate of chromosomal abnormalities, less likely progress to acute leukemia, and a good response to immunosuppressive therapy. It is noteworthy that majority of PNH clones in MDS patients comprise less than 1% of granulocytes and detection of these small clones requires an assay of higher specificity and sensitivity.
In our patient, the detection of PNH clone has been communicated with the treating physician, and immunosuppressive therapy may be initiated.
Proposed diagnosis:
Refractory cytopenia with Multilineage dysplasia (RCMD) associated with a paroxysmal nocturnal hemoglobinuria (PNH) clone.
Panel diagnosis:
agree with proposed diagnosis
Comments:
PowerPoint:
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